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Wyświetlanie 1-20 z 1644
Tytuł:
Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study.
Autorzy:
Doody A; Virginia Commonwealth University, Richmond, VA, USA.
Alfano L; Nationwide Children's Hospital, Columbus, OH, USA.
Diaz-Manera J; Newcastle University, Newcastle, UK.
Lowes L; Nationwide Children's Hospital, Columbus, OH, USA.
Mozaffar T; University of California, Irvine, CA, USA.
Mathews KD; University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Weihl CC; Washington University, St. Louis, MO, USA.
Wicklund M; UT Health San Antonio, San Antonio, TX, USA.
Hung M; Roseman University, Salt Lake City, UT, USA.
Statland J; University of Kansas Medical Center, Kansas City, KS, USA.
Johnson NE; Virginia Commonwealth University, Richmond, VA, USA. .
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Corporate Authors:
GRASP-LGMD Consortium
Źródło:
BMC neurology [BMC Neurol] 2024 Mar 15; Vol. 24 (1), pp. 96. Date of Electronic Publication: 2024 Mar 15.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/diagnosis
Muscular Dystrophies, Limb-Girdle*/genetics
Sarcoglycanopathies*
Humans ; Phenotype ; Muscle, Skeletal ; Mutation/genetics ; Nerve Tissue Proteins/genetics ; Molecular Chaperones/genetics ; HSP40 Heat-Shock Proteins/genetics ; Pentosyltransferases/genetics ; Anoctamins/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Autorzy:
Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Bonner DE; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Department of Pediatrics, Medical Genetics, Stanford University School of Medicine, Stanford, California, USA.
Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Acquaye N; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Brull A; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Mozaffar T; Department of Neurology, University of California, Irvine, California, USA.; Department of Pathology & Laboratory Medicine, University of California, Irvine, California, USA.
Saporta MA; Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida, USA.
Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Sampson JB; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Department of Neurology, Stanford University School of Medicine, Stanford, California, USA.
Pajusalu S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Hurth K; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Cohen JS; Department of Neurology and Developmental Medicine, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
McWalter K; GeneDx, Gaithersburg, Maryland, USA.
Warman-Chardon J; Department of Medicine, The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada.
Crunk A; GeneDx, Gaithersburg, Maryland, USA.
Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Mammen AL; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.; Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California, USA.
O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
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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Corporate Authors:
Undiagnosed Diseases Network
Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Mar; Vol. 11 (3), pp. 629-640. Date of Electronic Publication: 2024 Feb 04.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Diseases*/genetics
Muscular Diseases*/pathology
Cardiomyopathies*
Adult ; Humans ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/pathology ; Actinin/genetics ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
P373 Effect size analysis of cipaglucosidase alfa + miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL
Autorzy:
Diaz-Manera, J.
Bratkovic, D.
Byrne, B.
Claeys, K.
Dimachkie, M.
Kushlaf, H.
Kishnani, P.
Laforêt, P.
Mozaffar, T.
Roberts, M.
Toscano, A.
Castelli, J.
Raza, S.
Holdbrook, F.
Das, S Sitaraman
Wasfi, Y.
Schoser, B.
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Źródło:
In Neuromuscular Disorders October 2023 33 Supplement 1:S151-S151
Czasopismo naukowe
Szczegóły
Tytuł:
P154 The generation of a GNE myopathy patient-derived biobank enables the study of disease-relevant cellular phenotypes across multiple pathogenic variants
Autorzy:
Koczwara, K.
Lake, N.
Huang, S.
DeSimone, A.
Pajusalu, S.
Branford, K.
Hallak, D.
Woodman, K.
Xu, J.
Lek, A.
Best, H.
Habib, A.
Avelar, J.
Martin, V.
Mozaffar, T.
Shieh, P.
Weisleder, N.
Lek, M.
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Źródło:
In Neuromuscular Disorders October 2023 33 Supplement 1:S138-S138
Czasopismo naukowe
Szczegóły
Tytuł:
P292 Clinical outcome assessments in limb girdle muscular dystrophy R1/2A: a longitudinal update
Autorzy:
Hunn, S.
Alfano, L.
Lowes, L.
Wicklund, M.
Mathews, K.
Mozaffar, T.
Leung, D.
Jones, A.
Butler, A.
Hayes, M.
Sasidharan, S.
Reash, N.
Iammarino, M.
Laubscher, K.
Mockler, S.
Ausberger, R.
Holzer, M.
Stinson, N.
Seiffert, M.
Statland, J.
Johnson, N.
Weihl, C.
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Źródło:
In Neuromuscular Disorders October 2023 33 Supplement 1:S116-S116
Czasopismo naukowe
Szczegóły
Tytuł:
P281 Quality of life in adults with dysferlinopathy: international clinical outcome study of dysferlinopathy
Autorzy:
Hilsden, H.
James, M.
Dressman, H Gordish
Day, J.
Mendell, J.
Torron, R Fernandez
Harms, M.
Pestronk, A.
Vissing, J.
Desai, U.
Yoshimura, M.
Shin, J.
Mozaffar, T.
Stojkovic, T.
Pegoraro, E.
Raivas, J Bevilacqu
Olive, M.
Paradas, C.
Straub, V.
Mayhew, A.
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Źródło:
In Neuromuscular Disorders October 2023 33 Supplement 1:S113-S113
Czasopismo naukowe
Szczegóły
Tytuł:
Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.
Autorzy:
Roy B; Department of Neurology, Yale School of Medicine, New Haven, Connecticut, USA.
Peck A; Cure VCP Disease, Americus, Georgia, USA.
Evangelista T; GH Pitié-Salpêtrière, Sorbonne Université-Inserm UMRS97, Institut de Myologie, Paris, France.
Pfeffer G; Hotchkiss Brain Institute, Department of Clinical Neurosciences, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada.
Wang L; Department of Neurology, University of Washington, Seattle, Washington, USA.
Diaz-Manera J; John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle upon Tyne, UK.
Korb M; Department of Neurology, University of California-Irvine School of Medicine, Orange, California, USA.
Wicklund MP; Department of Neurology, University of Colorado, Denver, Colorado, USA.
Milone M; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.
Freimer M; Department of Neurology, Ohio State University, Columbus, Ohio, USA.
Kushlaf H; Department of Neurology and Rehabilitation Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
Villar-Quiles RN; APHP, Reference Center for Neuromuscular Disorders, Center of Research in Myology, Sorbonne Université-Inserm UMRS974, Pitié-Salpêtrière Hospital, Paris, France.
Stojkovic T; APHP, Reference Center for Neuromuscular Disorders, Center of Research in Myology, Sorbonne Université-Inserm UMRS974, Pitié-Salpêtrière Hospital, Paris, France.
Needham M; University of Notre Dame, Murdoch University and Fiona Stanley Hospital, Perth, Australia.
Palmio J; Neuromuscular Research Center, Tampere University Hospital, Tampere, Finland.
Lloyd TE; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Massachusetts, USA.; Department of Neuroscience and Pathology, Johns Hopkins University School of Medicine, Baltimore, Massachusetts, USA.
Keung B; Department of Neurology, Yale School of Medicine, New Haven, Connecticut, USA.
Mozaffar T; Department of Neurology, University of California-Irvine School of Medicine, Orange, California, USA.
Weihl CC; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Kimonis V; Department of Neurology, University of California-Irvine School of Medicine, Orange, California, USA.; Department of Pediatrics, University of California-Irvine School of Medicine, Orange, California, USA.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 May; Vol. 10 (5), pp. 686-695. Date of Electronic Publication: 2023 Apr 07.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Muscular Diseases*/diagnosis
Muscular Diseases*/genetics
Muscular Diseases*/therapy
Muscular Dystrophies, Limb-Girdle*/diagnosis
Muscular Dystrophies, Limb-Girdle*/genetics
Muscular Dystrophies, Limb-Girdle*/therapy
Proteostasis Deficiencies*
Humans ; Valosin Containing Protein/genetics ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
FP.17 Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)
Autorzy:
Schoser, B.
Kishnani, P.
Bratkovic, D.
Clemens, P.
Goker-Alpan, O.
Ming, X.
Roberts, M.
Vorgerd, M.
Sivakumar, K.
van der Ploeg, A.
Goldman, M.
Wright, J.
Holdbrook, F.
Jain, V.
Sitaraman, S.
Wasfi, Y.
Mozaffar, T.
Byrne, B.
Pokaż więcej
Źródło:
In Neuromuscular Disorders October 2022 32 Supplement 1:S73-S73
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 1644

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