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Tytuł :
Responsiveness and Minimal Clinically Important Difference of the Motor Function Measure in Collagen VI-Related Dystrophies and Laminin Alpha2-Related Muscular Dystrophy.
Autorzy :
Le Goff L; Department of Pediatric Physical Medicine and Rehabilitation, Hospices Civils de Lyon, Bron, France. Electronic address: .
Meilleur KG; National Institute of Nursing Research, National Institutes of Health, Bethesda, MD; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
Norato G; Office of Biostatistics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
Rippert P; Public Health Center, Research and Clinical Epidemiology Department, Hospices Civils de Lyon, Lyon, France.
Jain M; Mark O. Hatfield Clinical Research Center, National Institutes of Health, Bethesda, MD.
Fink M; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
Waite M; Mark O. Hatfield Clinical Research Center, National Institutes of Health, Bethesda, MD.
Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
Vuillerot C; Department of Pediatric Physical Medicine and Rehabilitation, Hospices Civils de Lyon, Bron, France; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Neuromyogen Institute, CNRS UMR 5310-INSERM, University of Lyon, Lyon, France; University of Lyon 1, F-69100, Villeurbanne, France.
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Źródło :
Archives of physical medicine and rehabilitation [Arch Phys Med Rehabil] 2021 Apr; Vol. 102 (4), pp. 604-610. Date of Electronic Publication: 2020 Nov 06.
Typ publikacji :
Journal Article; Observational Study; Research Support, N.I.H., Extramural
MeSH Terms :
Disability Evaluation*
Minimal Clinically Important Difference*
Motor Activity/*physiology
Muscular Dystrophies/*physiopathology
Muscular Dystrophies/*rehabilitation
Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; Female ; Humans ; Longitudinal Studies ; Male ; Prospective Studies ; Young Adult
Czasopismo naukowe
Tytuł :
Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.
Autorzy :
Natera-de Benito D; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain. .
Foley AR; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Domínguez-González C; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Ortez C; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Jain M; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Mebrahtu A; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Donkervoort S; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Hu Y; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Fink M; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Yun P; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Ogata T; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Medina J; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Vigo M; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Meilleur KG; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Leach ME; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Dastgir J; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Díaz-Manera J; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Carrera-García L; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Expósito-Escudero J; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Alarcon M; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Cuadras D; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Montiel-Morillo E; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Milisenda JC; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Dominguez-Rubio R; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Olivé M; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Colomer J; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Jou C; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Jimenez-Mallebrera C; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Bönnemann CG; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
Nascimento A; From the Neuromuscular Unit (D.N.-d.B., C.O., L.C.-G., J.E.-E., M.A., J.C., C.J., C.J.-M., A.N.), Neuropaediatrics Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain; Neuromuscular and Neurogenetic Disorders of Childhood Section (A.R.F., S.D., Y.H., M.F., P.Y., T.O., M.E.L., J.D., C.G.B.), National Institute of Neurological Disorders and Stroke, Rehabilitation Medicine Department (M.J., A.M.), Clinical Research Center, and Neuromuscular Symptoms Unit (K.G.M.), Tissue Injury Branch, National Institute of Nursing Research, NIH, Bethesda, MD; Department of Neurology (C.D.-G., E.M.-M.), Hospital Universitario 12 de Octubre, Research Institute (imas12), Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Department of Rehabilitation and Physical Medicine (J.M., M.V.), Hospital Sant Joan de Deu, Barcelona, Spain; Neuromuscular Diseases Unit (J.D.-M.), Department of Neurology, Hospital de La Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Centre for Biomedical Network Research on Rare Diseases (CIBERER); Statistics Department (D.C.), Fundació Sant Joan de Déu; Department of Internal Medicine (J.C.M.), Hospital Clinic, Universitat de Barcelona and CIBERER, Villarroel 170; Neuropathology Unit (R.D.-R., M.O.), Department of Pathology and Neuromuscular Unit, IDIBELL-Hospital Universitari de Bellvitge, Barcelona, Spain; and Department of Pathology (C.J.), Hospital Sant Joan de Déu, Barcelona, Spain.
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Źródło :
Neurology [Neurology] 2021 Mar 09; Vol. 96 (10), pp. e1413-e1424. Date of Electronic Publication: 2021 Jan 13.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Psychomotor Performance*
Collagen Type VI/*genetics
Muscular Dystrophies/*genetics
Muscular Dystrophies/*psychology
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Disease Progression ; Female ; Genotype ; Humans ; Kaplan-Meier Estimate ; Lung/physiopathology ; Male ; Middle Aged ; Muscular Dystrophies/physiopathology ; Respiratory Function Tests ; Retrospective Studies ; Spain ; Treatment Outcome ; United States ; Walking ; Young Adult
Czasopismo naukowe
Tytuł :
Development of a proxy-reported scale to assess motor function in infants and young children with early-onset neuromuscular disorders.
Autorzy :
Capella-Peris C; Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Emile-Backer M; Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Shelton MO; Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Chrismer IC; Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Cosgrove MM; Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Bendixen RM; Department of Occupational Therapy, University of Pittsburgh, Pittsburgh, PA, USA.
Meilleur KG; Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
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Źródło :
Journal of advanced nursing [J Adv Nurs] 2021 Mar; Vol. 77 (3), pp. 1591-1608. Date of Electronic Publication: 2020 Dec 03.
Typ publikacji :
Journal Article
MeSH Terms :
Outcome Assessment, Health Care*
Proxy*
Child ; Child, Preschool ; Focus Groups ; Humans ; Infant ; Reproducibility of Results ; Surveys and Questionnaires
Czasopismo naukowe
Tytuł :
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.
Autorzy :
Lawal TA; Tissue Injury Branch, National Institute of Nursing Research (NIH), Bethesda, MD, USA.
Patankar A; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (NIH), Bethesda, MD, USA.
Todd JJ; Tissue Injury Branch, National Institute of Nursing Research (NIH), Bethesda, MD, USA.
Razaqyar MS; Tissue Injury Branch, National Institute of Nursing Research (NIH), Bethesda, MD, USA.
Chrismer IC; Tissue Injury Branch, National Institute of Nursing Research (NIH), Bethesda, MD, USA.
Zhang X; Tissue Injury Branch, National Institute of Nursing Research (NIH), Bethesda, MD, USA.
Waite MR; Mark O. Hatfield Clinical Research Center, NIH, Bethesda, MD, USA.
Jain MS; Mark O. Hatfield Clinical Research Center, NIH, Bethesda, MD, USA.
Emile-Backer M; Tissue Injury Branch, National Institute of Nursing Research (NIH), Bethesda, MD, USA.
Witherspoon JW; Tissue Injury Branch, National Institute of Nursing Research (NIH), Bethesda, MD, USA.
Liu CY; Division of Cardiology, Department of Medicine, Johns Hopkins Medical Institutions, Baltimore, MD, USA.
Grunseich C; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (NIH), Bethesda, MD, USA.
Meilleur KG; Tissue Injury Branch, National Institute of Nursing Research (NIH), Bethesda, MD, USA.
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Źródło :
Journal of neuromuscular diseases [J Neuromuscul Dis] 2021 Feb 25. Date of Electronic Publication: 2021 Feb 25.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Autorzy :
Lawal TA; Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA. .
Todd JJ; Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Witherspoon JW; Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Bönnemann CG; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Dowling JJ; Departments of Paediatrics and Molecular Genetics, Hospital for Sick Children and University of Toronto, Toronto, Canada.
Hamilton SL; Molecular Physiology & Biophysics, Baylor College of Medicine, Houston, TX, USA.
Meilleur KG; Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Dirksen RT; Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, NY, USA.
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Źródło :
Skeletal muscle [Skelet Muscle] 2020 Nov 16; Vol. 10 (1), pp. 32. Date of Electronic Publication: 2020 Nov 16.
Typ publikacji :
Journal Article; Review; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
Czasopismo naukowe
Tytuł :
Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants' Experience.
Autorzy :
Capella-Peris C; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Building 60, Room 254, Bethesda, MD, 20892, USA. .
Cosgrove MM; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Building 60, Room 254, Bethesda, MD, 20892, USA.
Chrismer IC; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Building 60, Room 254, Bethesda, MD, 20892, USA.
Razaqyar MS; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Building 60, Room 254, Bethesda, MD, 20892, USA.
Elliott JS; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Building 60, Room 254, Bethesda, MD, 20892, USA.
Kuo A; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Building 60, Room 254, Bethesda, MD, 20892, USA.
Emile-Backer M; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Building 60, Room 254, Bethesda, MD, 20892, USA.
Meilleur KG; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Building 60, Room 254, Bethesda, MD, 20892, USA.
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Źródło :
The patient [Patient] 2020 Aug; Vol. 13 (4), pp. 423-434.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural
Czasopismo naukowe
Tytuł :
Correction to: Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy.
Autorzy :
Capella-Peris C; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA. .
Cosgrove MM; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Chrismer IC; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Emile-Backer M; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Razaqyar MS; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Elliott JS; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Kuo A; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Wakim PG; Biostatistics and Clinical Epidemiology Service, National Institutes of Health Clinical Center, Bethesda, MD, USA.
Meilleur KG; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
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Źródło :
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation [Qual Life Res] 2020 Aug; Vol. 29 (8), pp. 2183.
Typ publikacji :
Published Erratum
Tytuł :
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Autorzy :
Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Zou Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Dunford JE; Botnar Research Centre, National Institute for Health Research Biomedical Research Centre Oxford, University of Oxford, Oxford, United Kingdom.
Rooney J; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Chandra G; Children's National Health System, Center for Genetic Medicine Research, Washington, District of Columbia, USA.
Xiong H; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Straub V; Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom.
Voit T; Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Romero N; National Institute of Health and Medical Research U974, Sorbonne University, Institute of Myology, APHP, Paris, France.; Neuromuscular Morphology Unit, Institute of Myology, Pitié-Salpêtrière Hospital, Paris, France.
Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Markello T; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, Bethesda, Maryland, USA.
Horn A; Children's National Health System, Center for Genetic Medicine Research, Washington, District of Columbia, USA.
Qebibo L; Unit of Medical Genetics and Oncogenetics, University Hospital, Fes, Morocco.
Dastgir J; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Department of Pediatric Neurology, Goryeb Children's Hospital, Morristown, New Jersey, USA.
Meilleur KG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.; Biogen, Cambridge, Massachusetts, USA.
Finkel RS; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Translational Neuroscience Program, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Fan Y; Department of Pediatrics, Peking University First Hospital, Beijing, China.
Mamchaoui K; National Institute of Health and Medical Research U974, Sorbonne University, Institute of Myology, APHP, Paris, France.
Duguez S; National Institute of Health and Medical Research U974, Sorbonne University, Institute of Myology, APHP, Paris, France.; School of Biomedical Sciences, Ulster University, Derry, United Kingdom.
Nelson I; National Institute of Health and Medical Research U974, Sorbonne University, Institute of Myology, APHP, Paris, France.
Laporte J; Institute of Genetics and Molecular and Cellular Biology, National Institute of Health and Medical Research U1258, National Center for Scientific Research UMR7104, University of Strasbourg, Illkirch, France.
Santi M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Malfatti E; National Institute of Health and Medical Research U974, Sorbonne University, Institute of Myology, APHP, Paris, France.; U1179 University of Versailles Saint-Quentin-en-Yvelines-National Institute of Health and Medical Research, Paris-Saclay University, Versailles, France.; Neurology Department, Reference Center for Neuromuscular Diseases North/East/Ile de France, Raymond-Poincaré University Hospital, Garches, France.
Maisonobe T; Department of Clinical Neurophysiology, Pitié-Salpêtrière Hospital, Paris, France.
Touraine P; Department of Endocrinology and Reproductive Medicine, Faculty of Medicine, Sorbonne University, Pitié-Salpêtrière Hospital, APHP, Reference Center for Rare Endocrine Diseases of Growth and Development and Reference Center for Rare Gynecologic Disorders, Paris, France.
Hirano M; Department of Neurology, H. Houston Merritt Neuromuscular Research Center , Columbia University Medical Center, New York, New York, USA.
Hughes I; Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, United Kingdom.
Bushby K; Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom.
Oppermann U; Botnar Research Centre, National Institute for Health Research Biomedical Research Centre Oxford, University of Oxford, Oxford, United Kingdom.; Structural Genomics Consortium, University of Oxford, Oxford, United Kingdom.; Freiburg Institute of Advanced Studies, University of Freiburg, Freiburg, Germany.
Böhm J; Institute of Genetics and Molecular and Cellular Biology, National Institute of Health and Medical Research U1258, National Center for Scientific Research UMR7104, University of Strasbourg, Illkirch, France.
Jaiswal JK; Children's National Health System, Center for Genetic Medicine Research, Washington, District of Columbia, USA.; Department of Genomics and Precision Medicine, George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA.
Stojkovic T; Faculty of Medicine, Sorbonne University, Pitié-Salpêtrière Hospital, APHP, Reference Center for Neuromuscular Diseases North/East/Ile de France, Paris, France.
Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
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Źródło :
Annals of neurology [Ann Neurol] 2020 Aug; Vol. 88 (2), pp. 332-347. Date of Electronic Publication: 2020 Jun 18.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Dimethylallyltranstransferase/*genetics
Farnesyltranstransferase/*genetics
Geranyltranstransferase/*genetics
Hearing Loss/*genetics
Muscular Dystrophies/*genetics
Mutation/*genetics
Primary Ovarian Insufficiency/*genetics
Adolescent ; Adult ; Animals ; Female ; Gene Knock-In Techniques/methods ; Hearing Loss/diagnostic imaging ; Humans ; Male ; Mice ; Mice, Transgenic ; Middle Aged ; Muscular Dystrophies/diagnostic imaging ; Pedigree ; Primary Ovarian Insufficiency/diagnostic imaging ; Protein Structure, Secondary ; Sequence Analysis, DNA/methods ; Whole Exome Sequencing/methods ; Young Adult
Czasopismo naukowe
Tytuł :
Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy.
Autorzy :
Capella-Peris C; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA. .
Cosgrove MM; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Chrismer IC; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Emile-Backer M; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Razaqyar MS; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Elliott JS; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Kuo A; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Wakim PG; Biostatistics and Clinical Epidemiology Service, National Institutes of Health Clinical Center, Bethesda, MD, USA.
Meilleur KG; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
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Źródło :
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation [Qual Life Res] 2020 Jun; Vol. 29 (6), pp. 1641-1653. Date of Electronic Publication: 2020 Feb 10.
Typ publikacji :
Journal Article
MeSH Terms :
Acetylcysteine/*therapeutic use
Muscular Diseases/*psychology
Quality of Life/*psychology
Ryanodine Receptor Calcium Release Channel/*metabolism
Adaptation, Psychological ; Adult ; Fatigue/diagnosis ; Female ; Health Status ; Humans
Czasopismo naukowe
Tytuł :
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Autorzy :
Kushnir A; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA.; Department of Medicine, Division of Cardiology, Columbia University Irving Medical Center, New York, NY, USA.
Todd JJ; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Witherspoon JW; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Yuan Q; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA.
Reiken S; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA.
Lin H; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA.
Munce RH; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA.
Wajsberg B; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA.
Melville Z; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA.
Clarke OB; Department of Anesthesiology, Columbia University Irving Medical Center, New York, NY, USA.
Wedderburn-Pugh K; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA.
Wronska A; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA.
Razaqyar MS; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Chrismer IC; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Shelton MO; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Mankodi A; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Grunseich C; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Tarnopolsky MA; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.
Tanji K; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
Hirano M; Department of Neurology, H. Houston Merritt Neuromuscular Research Center, Columbia University Irving Medical Center, New York, NY, USA.
Riazi S; Department of Anesthesia, University of Toronto and Malignant Hyperthermia Investigation Unit, Toronto General Hospital, Toronto, Ontario, Canada.
Kraeva N; Department of Anesthesia, University of Toronto and Malignant Hyperthermia Investigation Unit, Toronto General Hospital, Toronto, Ontario, Canada.
Voermans NC; Department of Neurology, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.
Gruber A; PreventionGenetics, Marshfield, WI, USA.
Allen C; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Meilleur KG; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA. .
Marks AR; Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, Columbia University Irving Medical Center, New York, NY, USA. .; Department of Medicine, Division of Cardiology, Columbia University Irving Medical Center, New York, NY, USA. .
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Źródło :
Acta neuropathologica [Acta Neuropathol] 2020 Jun; Vol. 139 (6), pp. 1089-1104. Date of Electronic Publication: 2020 Mar 31.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Calcium/*metabolism
Muscular Diseases/*metabolism
Ryanodine Receptor Calcium Release Channel/*metabolism
Animals ; Cytoplasm/metabolism ; Humans ; Muscle, Skeletal/metabolism ; Muscular Diseases/therapy ; Ryanodine Receptor Calcium Release Channel/genetics ; Sarcoplasmic Reticulum/metabolism
Czasopismo naukowe
Tytuł :
Randomized controlled trial of N -acetylcysteine therapy for RYR1 -related myopathies.
Autorzy :
Todd JJ; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Lawal TA; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Witherspoon JW; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Chrismer IC; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Razaqyar MS; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Punjabi M; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Elliott JS; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Tounkara F; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Kuo A; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Shelton MO; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Allen C; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Cosgrove MM; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Linton M; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Michael D; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Jain MS; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Waite M; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Drinkard B; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Wakim PG; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Dowling JJ; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Bönnemann CG; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Emile-Backer M; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada.
Meilleur KG; From the Neuromuscular Symptoms Unit, National Institute of Nursing Research (J.J.T., T.A.L., J.W.W., I.C.C., M.S.R., M.P., J.S.E., F.T., A.K., M.O.S., C.A., M.M.C., M.L., M.E.-B., K.G.M.), Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department (M.S.J., M.W., B.D.), and Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (C.G.B.), NIH, Bethesda, MD; Hyperion Biotechnology Inc. (D.M.), San Antonio, TX; Biostatistics and Clinical Epidemiology Service (P.G.W.), NIH Clinical Center, Bethesda, MD; Division of Neurology and Program for Genetics and Genome Biology (J.J.D.) and Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, Toronto, Canada. .
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Źródło :
Neurology [Neurology] 2020 Mar 31; Vol. 94 (13), pp. e1434-e1444. Date of Electronic Publication: 2020 Jan 15.
Typ publikacji :
Journal Article; Randomized Controlled Trial; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
MeSH Terms :
Acetylcysteine/*therapeutic use
Free Radical Scavengers/*therapeutic use
Muscular Diseases/*drug therapy
Oxidative Stress/*drug effects
Adolescent ; Adult ; Child ; Dinoprost/analogs & derivatives ; Dinoprost/urine ; Female ; Humans ; Male ; Middle Aged ; Muscular Diseases/genetics ; Muscular Diseases/urine ; Ryanodine Receptor Calcium Release Channel/genetics ; Treatment Outcome ; Walk Test ; Young Adult
Czasopismo naukowe
Tytuł :
Use of Fatigue Index as a Measure of Local Muscle Fatigability in Ryanodine Receptor Isoform-1-Related Myopathies.
Autorzy :
Witherspoon JW; Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, United States.
Rekant JS; Rehabilitation Medicine Department, Mark O. Hatfield Clinical Research Center, National Institutes of Health, Bethesda, MD, United States.
Wakim PG; National Institutes of Health Clinical Center, Biostatistics and Clinical Epidemiology Service, Bethesda, MD, United States.
Vasavada R; Rehabilitation Medicine Department, Mark O. Hatfield Clinical Research Center, National Institutes of Health, Bethesda, MD, United States.
Waite M; Rehabilitation Medicine Department, Mark O. Hatfield Clinical Research Center, National Institutes of Health, Bethesda, MD, United States.
Chrismer I; Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, United States.
Shelton MO; Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, United States.
Jain MS; Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, United States.
Meilleur KG; Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, United States.
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Źródło :
Frontiers in neurology [Front Neurol] 2019 Dec 10; Vol. 10, pp. 1234. Date of Electronic Publication: 2019 Dec 10 (Print Publication: 2019).
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Motor function performance in individuals with RYR1-related myopathies.
Autorzy :
Witherspoon JW; National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland, USA.
Vuillerot C; L'Escale, Service de Médecine Physique et de Réadaptation Pédiatrique, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, F-69500, Bron, France. Université de Lyon, F-69000, Lyon, France. Université Lyon 1, F-69100, Villeurbanne, France.
Vasavada RP; Rehabilitation Medicine, National Institutes of Health, Bethesda, Maryland, USA.
Waite MR; Rehabilitation Medicine, National Institutes of Health, Bethesda, Maryland, USA.
Shelton M; National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland, USA.
Chrismer IC; National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland, USA.
Jain MS; Rehabilitation Medicine, National Institutes of Health, Bethesda, Maryland, USA.
Meilleur KG; National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland, USA.
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Źródło :
Muscle & nerve [Muscle Nerve] 2019 Jul; Vol. 60 (1), pp. 80-87.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural
MeSH Terms :
Movement/*physiology
Myopathies, Structural, Congenital/*physiopathology
Ryanodine Receptor Calcium Release Channel/*genetics
Adolescent ; Adult ; Child ; Disease Progression ; Female ; Humans ; Male ; Middle Aged ; Myopathies, Structural, Congenital/genetics ; Myopathy, Central Core/genetics ; Myopathy, Central Core/physiopathology ; Ophthalmoplegia/genetics ; Ophthalmoplegia/physiopathology ; Ryanodine Receptor Calcium Release Channel/deficiency ; Young Adult
SCR Disease Name :
Minicore Myopathy with External Ophthalmoplegia
Czasopismo naukowe
Tytuł :
Reliability and Validity of Self-Report Questionnaires as Indicators of Fatigue in RYR1-Related Disorders.
Autorzy :
Kuo A; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), United States.
Todd JJ; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), United States.
Witherspoon JW; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), United States.
Lawal TA; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), United States.
Elliott J; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), United States.
Chrismer IC; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), United States.
Shelton MO; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), United States.
Razaqyar MS; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), United States.
Jain MS; Mark O Hatfield Clinical Center, National Institutes of Health (NIH), United States.
Vasavada R; Mark O Hatfield Clinical Center, National Institutes of Health (NIH), United States.
Waite M; Mark O Hatfield Clinical Center, National Institutes of Health (NIH), United States.
Drinkard B; Mark O Hatfield Clinical Center, National Institutes of Health (NIH), United States.
Michael D; Hyperion Biotechnology Inc., San Antonio TX, United States.
Richarte A; Hyperion Biotechnology Inc., San Antonio TX, United States.
Bönnemann CG; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke - NINDS (NIH), United States.
Meilleur KG; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), United States.
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Źródło :
Journal of neuromuscular diseases [J Neuromuscul Dis] 2019; Vol. 6 (1), pp. 133-141.
Typ publikacji :
Clinical Trial; Journal Article
MeSH Terms :
Self Report*
Fatigue/*diagnosis
Neuromuscular Diseases/*diagnosis
Neuromuscular Diseases/*genetics
Ryanodine Receptor Calcium Release Channel/*genetics
Acetylcysteine/therapeutic use ; Adolescent ; Adult ; Biomarkers/metabolism ; Child ; Exercise Test ; Fatigue/drug therapy ; Fatigue/genetics ; Fatigue/physiopathology ; Female ; Follow-Up Studies ; Humans ; Male ; Neuromuscular Agents/therapeutic use ; Neuromuscular Diseases/drug therapy ; Neuromuscular Diseases/physiopathology ; Reproducibility of Results ; Saliva/metabolism
Czasopismo naukowe
Tytuł :
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Autorzy :
Todd JJ; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, 10 Center Drive, Room 2A07, Bethesda, MD, 20892, USA. .
Sagar V; Section on Molecular Structure and Functional Genomics, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Lawal TA; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, 10 Center Drive, Room 2A07, Bethesda, MD, 20892, USA.
Allen C; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, 10 Center Drive, Room 2A07, Bethesda, MD, 20892, USA.
Razaqyar MS; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, 10 Center Drive, Room 2A07, Bethesda, MD, 20892, USA.
Shelton MS; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, 10 Center Drive, Room 2A07, Bethesda, MD, 20892, USA.
Chrismer IC; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, 10 Center Drive, Room 2A07, Bethesda, MD, 20892, USA.
Zhang X; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, 10 Center Drive, Room 2A07, Bethesda, MD, 20892, USA.
Cosgrove MM; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, 10 Center Drive, Room 2A07, Bethesda, MD, 20892, USA.
Kuo A; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, 10 Center Drive, Room 2A07, Bethesda, MD, 20892, USA.
Vasavada R; Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department, National Institutes of Health, Bethesda, MD, USA.
Jain MS; Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department, National Institutes of Health, Bethesda, MD, USA.
Waite M; Mark O. Hatfield Clinical Research Center, Rehabilitation Medicine Department, National Institutes of Health, Bethesda, MD, USA.
Rajapakse D; Section on Molecular Structure and Functional Genomics, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Witherspoon JW; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, 10 Center Drive, Room 2A07, Bethesda, MD, 20892, USA.
Wistow G; Section on Molecular Structure and Functional Genomics, National Eye Institute, National Institutes of Health, Bethesda, MD, USA.
Meilleur KG; Neuromuscular Symptoms Unit, Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, 10 Center Drive, Room 2A07, Bethesda, MD, 20892, USA.
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Źródło :
Journal of neurology [J Neurol] 2018 Nov; Vol. 265 (11), pp. 2506-2524. Date of Electronic Publication: 2018 Aug 28.
Typ publikacji :
Journal Article; Randomized Controlled Trial
MeSH Terms :
Neuromuscular Diseases/*genetics
Neuromuscular Diseases/*physiopathology
Ryanodine Receptor Calcium Release Channel/*genetics
Acetylcysteine/therapeutic use ; Adolescent ; Adult ; Cross-Sectional Studies ; Double-Blind Method ; Female ; Genetic Association Studies ; Genetic Variation ; Humans ; Male ; Neuromuscular Agents/therapeutic use ; Neuromuscular Diseases/drug therapy ; Neuromuscular Diseases/pathology ; Prospective Studies ; Ryanodine Receptor Calcium Release Channel/metabolism ; Structure-Activity Relationship ; Young Adult
Czasopismo naukowe
Tytuł :
Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.
Autorzy :
Lawal TA; Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Todd JJ; Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA.
Meilleur KG; Neuromuscular Symptoms Unit, National Institute of Nursing Research, National Institutes of Health, Bethesda, MD, USA. .
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Źródło :
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics [Neurotherapeutics] 2018 Oct; Vol. 15 (4), pp. 885-899.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Review
MeSH Terms :
Muscular Diseases*/diagnosis
Muscular Diseases*/genetics
Muscular Diseases*/therapy
Ryanodine Receptor Calcium Release Channel/*metabolism
Animals ; Humans ; Ryanodine Receptor Calcium Release Channel/genetics
Czasopismo naukowe
Tytuł :
6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies.
Autorzy :
Witherspoon JW; National Institute of Nursing Research, NIH, Bethesda, MD, USA. .
Vasavada RP; Rehabilitation Medicine, NIH, Bethesda, MD, USA.
Waite MR; Rehabilitation Medicine, NIH, Bethesda, MD, USA.
Shelton M; National Institute of Nursing Research, NIH, Bethesda, MD, USA.
Chrismer IC; National Institute of Nursing Research, NIH, Bethesda, MD, USA.
Wakim PG; Biostatistics and Clinical Epidemiology, NIH, Bethesda, MD, USA.
Jain MS; Rehabilitation Medicine, NIH, Bethesda, MD, USA.
Bönnemann CG; National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.
Meilleur KG; National Institute of Nursing Research, NIH, Bethesda, MD, USA.
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Źródło :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Jul 03; Vol. 13 (1), pp. 105. Date of Electronic Publication: 2018 Jul 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Diseases/*diagnosis
Muscular Diseases/*metabolism
Ryanodine Receptor Calcium Release Channel/*metabolism
Walk Test/*methods
Activities of Daily Living ; Adolescent ; Adult ; Child ; Disease Progression ; Fatigue/diagnosis ; Fatigue/metabolism ; Female ; Humans ; Male ; Middle Aged ; Muscle Weakness/metabolism ; Young Adult
Czasopismo naukowe
Tytuł :
Novel Variants in Individuals with RYR1 -Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.
Autorzy :
Todd JJ; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
Razaqyar MS; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
Witherspoon JW; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
Lawal TA; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
Mankodi A; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke--NINDS (NIH), Bethesda, MD, United States.
Chrismer IC; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
Allen C; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
Meyer MD; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
Kuo A; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
Shelton MS; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
Amburgey K; Division of Neurology, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Niyazov D; Department of Pediatrics, Ochsner Medical Center, New Orleans, LA, United States.
Fequiere P; Division of Neurology, Children's of Alabama, Birmingham, AL, United States.
Bönnemann CG; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke--NINDS (NIH), Bethesda, MD, United States.
Dowling JJ; Department of Paediatrics, Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, Hospital for Sick Children, Toronto, ON, Canada.
Meilleur KG; Neuromuscular Symptoms Unit, National Institute of Nursing Research (NIH), Bethesda, MD, United States.
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Źródło :
Frontiers in neurology [Front Neurol] 2018 Mar 05; Vol. 9, pp. 118. Date of Electronic Publication: 2018 Mar 05 (Print Publication: 2018).
Typ publikacji :
Case Reports
Raport
Tytuł :
Electrical impedance myography in individuals with collagen 6 and laminin α-2 congenital muscular dystrophy: a cross-sectional and 2-year analysis.
Autorzy :
Nichols C; Mark O. Hatfield Clinical Research Center, National Institutes of Health, Bethesda, Maryland, USA.; University of Chicago School of Medicine, Chicago, Illinois, USA.
Jain MS; Mark O. Hatfield Clinical Research Center, National Institutes of Health, Bethesda, Maryland, USA.
Meilleur KG; Tissue Injury Branch, National Institute of Nursing Research, National Institutes of Health, Bethesda, Maryland, USA.
Wu T; Clinical Trials Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Collins J; Mercy Clinic Pediatric Neurology, Springfield, Missouri, USA.
Waite MR; Mark O. Hatfield Clinical Research Center, National Institutes of Health, Bethesda, Maryland, USA.
Dastgir J; Columbia University, New York, New York, USA.
Salman A; EMG Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10/Room 7-5680, Bethesda, Maryland, 20892-1404, USA.; Mercy Hospital, Baltimore, Maryland, USA.
Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Duong T; Stanford Children's Health, Palo Alto, California, USA.
Keller K; Rady Children's Hospital, San Diego, California, USA.
Leach ME; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Lott DJ; University of Florida, Gainesville, Florida, USA.
McGuire MN; Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Nelson L; University of Texas Southwestern Medical Center, Dallas Texas, USA.
Rutkowski A; Kaiser Permanente SCPMG Cure CMD, Los Angeles, California, USA.
Vuillerot C; Hospices Civils de Lyon, Hôpital femme Mère enfant, Bron, France.; Université de Lyon, Lyon, France.
Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Lehky TJ; EMG Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10/Room 7-5680, Bethesda, Maryland, 20892-1404, USA.
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Źródło :
Muscle & nerve [Muscle Nerve] 2018 Jan; Vol. 57 (1), pp. 54-60. Date of Electronic Publication: 2017 Apr 25.
Typ publikacji :
Journal Article
MeSH Terms :
Electric Impedance*
Collagen Type VI/*genetics
Laminin/*genetics
Muscular Dystrophies/*congenital
Muscular Dystrophies/*genetics
Myography/*methods
Adolescent ; Child ; Child, Preschool ; Cohort Studies ; Cross-Sectional Studies ; Female ; Humans ; Male ; Muscle Strength ; Neurologic Examination/methods ; Running ; Sensitivity and Specificity ; Severity of Illness Index
Czasopismo naukowe

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