Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""9111470"" wg kryterium: JN


Tytuł :
Pulmonary lymphangiectasia in myotubular myopathy: a novel unrecognized association?
Autorzy :
de Carvalho Nunes G; Division of Neonatology, Department of Pediatrics, McGill University Health Centre, Montreal, Quebec, Canada. Electronic address: .
Grenier K; Department of Pathology, McGill University Health Centre, Montreal, Quebec, Canada.
Maedler Kron C; Department of Pathology, McGill University Health Centre, Montreal, Quebec, Canada.
Kitzler T; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Helou JE; Division of Medical Genetics, Department of Specialized Medicine, Jewish General Hospital, Montreal, Quebec, Canada.
Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Division of Medical Genetics, Department of Specialized Medicine, Jewish General Hospital, Montreal, Quebec, Canada.
Olivier F; Division of Neonatology, Department of Pediatrics, McGill University Health Centre, Montreal, Quebec, Canada.
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 May 02. Date of Electronic Publication: 2022 May 02.
Typ publikacji :
Case Reports
Raport
Tytuł :
Evaluation of real-life outcome data of patients with spinal muscular atrophy treated with nusinersen in Switzerland.
Autorzy :
Tscherter A; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Rüsch CT; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Baumann D; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland.
Enzmann C; Pediatric Neurology, University Children's Hospital Basel, University of Basel, Basel, Switzerland.
Hasselmann O; Department of Neuropaediatrics, Children's Hospital of Eastern Switzerland, St.Gallen, Switzerland.
Jacquier D; Pediatric Neurorology and Neurorehabilitation Unit, Lausanne University Hospital, Lausanne, Switzerland.
Jung HH; Department of Neurology, University Hospital Zurich, Zurich, Switzerland.
Kruijshaar ME; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherland.
Kuehni CE; Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland; Children's University Hospital, Inselspital, University of Bern, Bern, Switzerland.
Neuwirth C; Neuromuscular Diseases Unit/ALS Clinic, Cantonal Hospital St. Gallen, St. Gallen, Switzerland.
Stettner GM; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Klein A; Pediatric Neurology, University Children's Hospital Basel, University of Basel, Basel, Switzerland; Division of Neuropaediatrics, Development and Rehabilitation, University Children's Hospital Bern, Inselspital, University of Bern, Bern, Switzerland. Electronic address: .
Pokaż więcej
Corporate Authors :
Swiss-Reg-NMD group
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 May; Vol. 32 (5), pp. 399-409. Date of Electronic Publication: 2022 Feb 09.
Typ publikacji :
Journal Article; Multicenter Study; Observational Study
MeSH Terms :
Muscular Atrophy, Spinal*
Spinal Muscular Atrophies of Childhood*/drug therapy
Adolescent ; Adult ; Child ; Child, Preschool ; Humans ; Infant ; Oligonucleotides/therapeutic use ; Switzerland ; Young Adult
Czasopismo naukowe
Tytuł :
Mitochondrial dysfunction in anti-3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) immune-mediated necrotising myopathy.
Autorzy :
Acosta IJ; Neuropathology Department, John Radcliffe Hospital, Oxford University Hospitals Trust, Oxford, OX3 9DU, United Kingdom; Translational neurology and neurophysiology laboratory. Advance clinical research centre (CICA), School of Medicine, Universidad de Chile, Providencia, Santiago 7500787, Chile; Neurology and Psychiatry department, Clínica Alemana Santiago, Vitacura 5951, Vitacura, Santiago 7650568, Chile; Neurology and Neurosurgery department, Clínica Dávila, Recoleta, Santiago 8531657, Chile. Electronic address: .
Hofer M; Neuropathology Department, John Radcliffe Hospital, Oxford University Hospitals Trust, Oxford, OX3 9DU, United Kingdom.
Brady S; Oxford Muscle Service, Department of Neurology, John Radcliffe Hospital, Oxford University Hospitals Trust, Oxford OX3 9DU, United Kingdom.
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 May; Vol. 32 (5), pp. 441-444. Date of Electronic Publication: 2022 Mar 25.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Autoimmune Diseases*/pathology
Hydroxymethylglutaryl-CoA Reductase Inhibitors*
Muscular Diseases*/pathology
Myositis*/pathology
Aged ; Autoantibodies ; Case-Control Studies ; Coenzymes ; Humans ; Hydroxymethylglutaryl CoA Reductases ; Mitochondria/pathology ; Muscle, Skeletal/pathology ; Necrosis/pathology
Czasopismo naukowe
Tytuł :
Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B.
Autorzy :
Kamien B; Genetic Services of Western Australia, Perth, WA, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.
Clayton JS; Harry Perkins Institute, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.
Lee HS; Maternal Fetal Medicine, King Edward Memorial Hospital, Subiaco, WA, Australia.
Abeysuriya D; Department of Anatomical Pathology, PathWest Laboratory Medicine, Perth, WA, Australia.
McNamara E; Harry Perkins Institute, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.
Martinovic J; Unit of Embryo-Fetal Pathology, AP-HP, Antoine Béclère Hospital, Clamart, France.
Gonzales M; Unité d'Embryofoetopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France.
Melki J; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, France.
Ravenscroft G; Harry Perkins Institute, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia. Electronic address: .
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 May; Vol. 32 (5), pp. 445-449. Date of Electronic Publication: 2022 Mar 27.
Typ publikacji :
Case Reports
MeSH Terms :
Arthrogryposis*/genetics
Contracture*/genetics
Skin Abnormalities*
Synostosis*/genetics
Abnormalities, Multiple ; Conjunctiva/abnormalities ; Humans ; Lumbar Vertebrae/abnormalities ; Musculoskeletal Diseases ; Phenotype ; Pterygium ; Scoliosis/congenital ; Thoracic Vertebrae/abnormalities
SCR Disease Name :
Pterygium Of Conjunctiva And Cornea; Spondylocarpotarsal synostosis
Raport
Tytuł :
The therapeutic potential of soluble activin type IIB receptor treatment in a limb girdle muscular dystrophy type 2D mouse model.
Autorzy :
Alqallaf A; School of Biological Sciences, University of Reading, Reading, United Kingdom; Medical Services Authority, Ministry of Defence, Kuwait.
Engelbeen S; Leiden University Medical Center, Department of Human Genetics, Leiden, the Netherlands.
Palo A; School of Biological Sciences, University of Reading, Reading, United Kingdom.
Cutrupi F; School of Biological Sciences, University of Reading, Reading, United Kingdom.
Tanganyika-de Winter C; Leiden University Medical Center, Department of Human Genetics, Leiden, the Netherlands.
Plomp J; Leiden University Medical Center, Department of Neurology, the Netherlands.
Vaiyapuri S; School of Pharmacy, University of Reading, Reading, United Kingdom.
Aartsma-Rus A; Leiden University Medical Center, Department of Human Genetics, Leiden, the Netherlands.
Patel K; School of Biological Sciences, University of Reading, Reading, United Kingdom. Electronic address: .
van Putten M; Leiden University Medical Center, Department of Human Genetics, Leiden, the Netherlands. Electronic address: m.van_.
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 May; Vol. 32 (5), pp. 419-435. Date of Electronic Publication: 2022 Mar 07.
Typ publikacji :
Journal Article
MeSH Terms :
Myostatin*/genetics
Sarcoglycanopathies*/metabolism
Activin Receptors/metabolism ; Activins/metabolism ; Animals ; Disease Models, Animal ; Mice ; Muscle, Skeletal/pathology ; Sarcoglycans/genetics ; Sarcoglycans/metabolism
Czasopismo naukowe
Tytuł :
Identification of a novel mutation and genotype-phenotype relationship in MEGF10 myopathy.
Autorzy :
Fujii K; Department of Neurology, Kindai University Faculty of Medicine, Osakasayama, Osaka 589-8511, Japan.
Hirano M; Department of Neurology, Kindai University Faculty of Medicine, Osakasayama, Osaka 589-8511, Japan. Electronic address: .
Terayama A; Department of Neurology, Kindai University Faculty of Medicine, Osakasayama, Osaka 589-8511, Japan.
Inada R; Department of Neurology, Kindai University Faculty of Medicine, Osakasayama, Osaka 589-8511, Japan.
Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan.
Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187-8551, Japan.
Nagai Y; Department of Neurology, Kindai University Faculty of Medicine, Osakasayama, Osaka 589-8511, Japan.
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 May; Vol. 32 (5), pp. 436-440. Date of Electronic Publication: 2022 Jan 31.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Membrane Proteins*/genetics
Muscular Diseases*/genetics
Muscular Diseases*/pathology
Genotype ; Humans ; Male ; Muscle, Skeletal/pathology ; Mutation ; Phenotype
Czasopismo naukowe
Tytuł :
Clinical and neuroradiological correlates of sleep in myotonic dystrophy type 1.
Autorzy :
Hamilton MJ; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK; Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK. Electronic address: .
Atalaia A; Sorbonne Université, Inserm, Center of Research in Myology, UMRS 974, Institut de Myologie, G.H . Pitié-Salpêtrière, Paris, France.
McLean J; Department of Neuroradiology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
Cumming SA; Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.
Evans JJ; Institute of Health and Wellbeing, University of Glasgow, Gartnavel Royal Hospital, Glasgow, UK G12 0XH.
Ballantyne B; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
Jampana R; Department of Neuroradiology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
The Scottish Myotonic Dystrophy Consortium; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
Longman C; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
Livingston E; Department of Respiratory Medicine, Glasgow Royal Infirmary, Glasgow G4 0SF, UK.
van der Plas E; Department of Psychiatry, University of Iowa Hospital and Clinics, Iowa City, IA, USA.
Koscik T; Department of Psychiatry, University of Iowa Hospital and Clinics, Iowa City, IA, USA.
Nopoulos P; Department of Psychiatry, University of Iowa Hospital and Clinics, Iowa City, IA, USA.
Farrugia ME; Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
Monckton DG; Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK.
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 May; Vol. 32 (5), pp. 377-389. Date of Electronic Publication: 2022 Feb 14.
Typ publikacji :
Journal Article
MeSH Terms :
Disorders of Excessive Somnolence*/complications
Disorders of Excessive Somnolence*/etiology
Myotonic Dystrophy*/complications
Myotonic Dystrophy*/diagnostic imaging
Fatigue/complications ; Fatigue/etiology ; Humans ; Male ; Sleep ; Sleepiness
Czasopismo naukowe
Tytuł :
Genitourinary and lower gastrointestinal conditions in patients with myotonic dystrophy type 1: A systematic review of evidence and implications for clinical practice.
Autorzy :
Fisette-Paulhus I; Faculté de médecine et des sciences de la santé, Université de Sherbrooke, 3001, 12th Avenue Nord, Sherbrooke, Québec J1H 5N4, Canada.
Gagnon C; Faculté de médecine et des sciences de la santé, Université de Sherbrooke, 3001, 12th Avenue Nord, Sherbrooke, Québec J1H 5N4, Canada; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), CIUSSS du Saguenay-Lac-St-Jean - Hôpital de Jonquière, 2330, rue de l'Hôpital, Jonquière, Québec G7X 7X2, Canada; Centre de recherche Charles-Le-Moyne-Saguenay-Lac-St-Jean sur les innovations en santé (CR-CSIS), CIUSSS du Saguenay-Lac-St-Jean - Hôpital de Chicoutimi, 305, rue Saint-Vallier, Chicoutimi, Québec G7H 5H6, Canada.
Girard-Côté L; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), CIUSSS du Saguenay-Lac-St-Jean - Hôpital de Jonquière, 2330, rue de l'Hôpital, Jonquière, Québec G7X 7X2, Canada; Département des Sciences de la Santé, Université du Québec à Chicoutimi, 555, boulevard de l'Université, Chicoutimi, Québec G7H 2B1, Canada.
Morin M; Faculté de médecine et des sciences de la santé, Université de Sherbrooke, 3001, 12th Avenue Nord, Sherbrooke, Québec J1H 5N4, Canada; Research Center of the Centre Hospitalier Universitaire de Sherbrooke, School of Rehabilitation, Faculty of Medicine and Health Sciences, University of Sherbrooke, 3001, 12th Avenue Nord, Sherbrooke, Québec J1H 5N4, Canada. Electronic address: .
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 May; Vol. 32 (5), pp. 361-376. Date of Electronic Publication: 2022 Jan 23.
Typ publikacji :
Journal Article; Review; Systematic Review
MeSH Terms :
Fecal Incontinence*
Myotonic Dystrophy*/complications
Myotonic Dystrophy*/diagnosis
Myotonic Dystrophy*/therapy
Humans ; Male ; Muscle, Skeletal ; Quality of Life ; Surveys and Questionnaires
Czasopismo naukowe
Tytuł :
Leveraging cardiac magnetic resonance imaging to assess skeletal muscle progression in Duchenne muscular dystrophy.
Autorzy :
Kaslow JA; Department of Pediatrics, Division of Pediatric Pulmonary, Vanderbilt University Medical Center, 2200 Children's Way, Doctors' Office Tower 11215, Nashville, TN 37232, USA. Electronic address: .
Sokolow AG; Department of Pediatrics, Division of Pediatric Pulmonary, Vanderbilt University Medical Center, 2200 Children's Way, Doctors' Office Tower 11215, Nashville, TN 37232, USA.
Donnelly T; Department of Pediatrics, Thomas P Graham Jr. Division of Pediatric Cardiology, Vanderbilt University Medical Center, 2200 Children's Way, Doctors' Office Tower 5230, Nashville, TN 37232, USA.
Buchowski MS; Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, Vanderbilt University Medical Center, 1161 21st Ave S, Nashville, TN 37232 USA.
Damon BM; Departments of Radiology and Radiological Sciences, Molecular Physiology and Biophysics, and Biomedical Engineering, Vanderbilt University Medical Center, 1161 21st Ave S, AA-3105 Medical Center North, Nashville, TN, USA.
Markham LW; Department of Pediatrics, Division of Cardiology, Riley Hospital for Children at Indiana University Health, 705 Riley Hospital Drive, RR 1134, Indianapolis, IN 46202, USA.
Burnette WB; Division of Pediatric Neurology, Vanderbilt University Medical Center, 2200 Children's Way, Doctors' Office Tower 9th floor, Nashville, TN 37232, USA.
Soslow JH; Department of Pediatrics, Thomas P Graham Jr. Division of Pediatric Cardiology, Vanderbilt University Medical Center, 2200 Children's Way, Doctors' Office Tower 5230, Nashville, TN 37232, USA.
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 May; Vol. 32 (5), pp. 390-398. Date of Electronic Publication: 2022 Feb 04.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Dystrophy, Duchenne*
Disease Progression ; Heart ; Humans ; Magnetic Resonance Imaging/methods ; Muscle, Skeletal/diagnostic imaging
Czasopismo naukowe
Tytuł :
Upper body involvement in GNE myopathy assessed by muscle imaging.
Autorzy :
Torchia E; Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address: .
Lucchini M; Università Cattolica del Sacro Cuore, Rome, Italy; UOC di Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.
Bortolani S; UOC di Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.
Monforte M; UOC di Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.
Garibaldi M; Neuromuscular and Rare Disease Centre, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Sant'Andrea Hospital, Rome, Italy.
Mirabella M; Università Cattolica del Sacro Cuore, Rome, Italy; UOC di Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.
Tartaglione T; Department of Radiology, Istituto Dermopatico dell'Immacolata, IRCCS, Rome, Italy.
Ricci E; Università Cattolica del Sacro Cuore, Rome, Italy; UOC di Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.
Tasca G; UOC di Neurologia, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, Rome, Italy.
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 May; Vol. 32 (5), pp. 410-418. Date of Electronic Publication: 2022 Jan 12.
Typ publikacji :
Journal Article
MeSH Terms :
Distal Myopathies*/pathology
Humans ; Lower Extremity/pathology ; Magnetic Resonance Imaging ; Muscle, Skeletal/diagnostic imaging ; Muscle, Skeletal/pathology ; Retrospective Studies
SCR Disease Name :
Distal myopathy, Nonaka type
Czasopismo naukowe
Tytuł :
Selected clinical and demographic factors and all-cause mortality among individuals with Duchenne muscular dystrophy in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Autorzy :
Paramsothy P; Division of Birth Defects and Infant Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, MS S106-3, 4770 Buford Hwy, Chamblee, GA 30341-3717, United States of America. Electronic address: .
Wang Y; McKing Consulting Corporation Consultant to Centers for Disease Control and Prevention, 2900 Chamblee Tucker Rd. Building 10, Ste. 100. Atlanta, GA 30341, United States of America.
Cai B; Department of Epidemiology and Biostatistics, Arnold School of Public Health, University of South Carolina, 915 Greene Street, Suite 460, Columbia, SC 29208, United States of America.
Conway KM; Department of Epidemiology, College of Public Health, The University of Iowa, 145 N Riverside Drive, CHCPHB=College of Public Health Building, Iowa City, IA 52242, United States of America.
Johnson NE; Department of Neurology, Virginia Commonwealth University, 1101 East Marshall St., Richmond, VA 23059, United States of America.
Pandya S; Department of Neurology, University of Rochester, 601 Elmwood Ave, Rochester, NY, 14642, United States of America.
Ciafaloni E; Department of Neurology, University of Rochester, 601 Elmwood Ave, Rochester, NY, 14642, United States of America.
Mathews KD; Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, 200 Hawkins Dr., Iowa City, IA 52242, United States.
Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, 145 N Riverside Drive, CHCPHB=College of Public Health Building, Iowa City, IA 52242, United States of America.
Howard JF Jr; Department of Neurology, The University of North Carolina at Chapel Hill, CB#7025, Houpt Building, 170 Manning Drive, Chapel Hill, NC 27599-7025, United States.
Riley C; Division of Birth Defects and Infant Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, MS S106-3, 4770 Buford Hwy, Chamblee, GA 30341-3717, United States of America.
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Apr 30. Date of Electronic Publication: 2022 Apr 30.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Lack of muscle stem cell proliferation and myocellular hypertrophy in sIBM patients following blood-flow restricted resistance training.
Autorzy :
Jensen KY; Center for Rheumatology and Spine Diseases, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Sports Science and Clinical Biomechanics, University of Southern Denmark, Odense, Denmark; Department of Pathology, Department of Clinical Research, University of Southern Denmark, Odense University Hospital, Denmark. Electronic address: .
Nielsen JL; Department of Sports Science and Clinical Biomechanics, University of Southern Denmark, Odense, Denmark.
Schrøder HD; Department of Pathology, Department of Clinical Research, University of Southern Denmark, Odense University Hospital, Denmark.
Jacobsen M; Department of Sports Science and Clinical Biomechanics, University of Southern Denmark, Odense, Denmark; Department of Pathology, Department of Clinical Research, University of Southern Denmark, Odense University Hospital, Denmark.
Boyle E; Department of Sports Science and Clinical Biomechanics, University of Southern Denmark, Odense, Denmark.
Jørgensen AN; Department of Sports Science and Clinical Biomechanics, University of Southern Denmark, Odense, Denmark; Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
Bech RD; Department of Orthopaedics and Traumatology, Zealand University Hospital, Koege Denmark.
Frandsen U; Department of Sports Science and Clinical Biomechanics, University of Southern Denmark, Odense, Denmark.
Aagaard P; Department of Sports Science and Clinical Biomechanics, University of Southern Denmark, Odense, Denmark.
Diederichsen LP; Center for Rheumatology and Spine Diseases, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Rheumatology, Odense University Hospital, Odense, Denmark.
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Apr 26. Date of Electronic Publication: 2022 Apr 26.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Longer-term follow-up of nusinersen efficacy and safety in adult patients with spinal muscular atrophy types 2 and 3.
Autorzy :
Fainmesser Y; Neuromuscular Diseases Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel. Electronic address: .
Drory VE; Neuromuscular Diseases Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Ben-Shushan S; Interventional Radiology Clinic, Mayanei Hayeshua Medical Center, Bnei Brak, Israel.
Lavon A; Neuromuscular Diseases Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Spector L; Neuromuscular Diseases Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Abramovich B; Neuromuscular Diseases Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Abraham A; Neuromuscular Diseases Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Apr 13. Date of Electronic Publication: 2022 Apr 13.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Neuromuscular complications of severe COVID-19 in paediatric patients: Medium-term follow-up.
Autorzy :
Avila-Smirnow D; Unidad de Neurología Pediátrica, División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, Santiago, Región Metropolitana 8330077, Chile; Unidad de Neurología, Servicio de Pediatría, Complejo Asistencial Dr. Sótero del Río, Av. Concha y Toro 3459, Puente Alto, Región Metropolitana 8207257, Chile. Electronic address: .
Céspedes P; Unidad de Paciente Crítico Pediátrico, Servicio de Pediatría, Complejo Asistencial Dr. Sótero del Río, Av. Concha y Toro 3459, Puente Alto, Región Metropolitana 8207257, Chile.
Reyes F; Unidad de Infectología Pediátrica, Servicio de Pediatría, Complejo Asistencial Dr. Sótero del Río, Av. Concha y Toro 3459, Puente Alto, Región Metropolitana 8207257, Chile.
Angulo J; Laboratorio de Virología Molecular, Instituto Milenio de Inmunología e Inmunoterapia, Departamento de Enfermedades Infecciosas e Inmunología Pediátrica, Centro de Investigaciones Médicas, Escuela de Medicina, Pontificia Universidad Católica de Chile, Avenida Libertador Bernardo O'Higgins 340, 8331150 Santiago, Chile.
Cavagnaro A; Unidad de Paciente Crítico Pediátrico, Servicio de Pediatría, Complejo Asistencial Dr. Sótero del Río, Av. Concha y Toro 3459, Puente Alto, Región Metropolitana 8207257, Chile.
Wegner A; Unidad de Paciente Crítico Pediátrico, Servicio de Pediatría, Complejo Asistencial Dr. Sótero del Río, Av. Concha y Toro 3459, Puente Alto, Región Metropolitana 8207257, Chile.
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Apr 09. Date of Electronic Publication: 2022 Apr 09.
Typ publikacji :
Case Reports
Raport
Tytuł :
Dosage effects of PMP22 on nonmyelinating Schwann cells in hereditary neuropathy with liability to pressure palsies.
Autorzy :
Koike H; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: .
Furukawa S; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Mouri N; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Fukami Y; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Iijima M; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Katsuno M; Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan. Electronic address: .
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Apr 09. Date of Electronic Publication: 2022 Apr 09.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls.
Autorzy :
Muntoni F; Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, UK.
Signorovitch J; Analysis Group, Inc., Boston, Massachusetts, USA; The Collaborative Trajectory Analysis Project, Cambridge, Massachusetts, USA. Electronic address: .
Sajeev G; Analysis Group, Inc., Boston, Massachusetts, USA.
Goemans N; University Hospitals Leuven, Child Neurology, Leuven, Belgium.
Wong B; Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts, USA.
Tian C; Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio & College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Mercuri E; Department of Pediatric Neurology, Fondazione Policlinico Gemelli IRCCS, Catholic University, Rome, Italy.
Done N; Analysis Group, Inc., Boston, Massachusetts, USA.
Wong H; Analysis Group, Inc., Boston, Massachusetts, USA.
Moss J; Analysis Group, Inc., Boston, Massachusetts, USA.
Yao Z; Analysis Group, Inc., Boston, Massachusetts, USA.
Ward SJ; The Collaborative Trajectory Analysis Project, Cambridge, Massachusetts, USA.
Manzur A; Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, UK.
Servais L; UK Oxford Neuromuscular Center, Department of Paediatrics, University of Oxford, UK and Neuromuscular Center of Liège, Division of Paediatrics, CHU and University of Liège, Belgium.
Niks EH; Leiden University Medical Centre, Leiden, the Netherlands.
Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle, UK.
de Groot IJ; Radboud University Nijmegen Medical Center, Donders Centre of Neuroscience, Department of Rehabilitation, Nijmegen, the Netherlands.
McDonald C; Department of Physical Medicine and Rehabilitation, and Pediatrics, University of California, Davis, Sacramento, California, USA.
Pokaż więcej
Corporate Authors :
North Star Clinical Network, PRO-DMD-01 Study, The Association Française contre les Myopathies (AFM), The DMD Italian Group, and The Collaborative Trajectory Analysis Project (cTAP)
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Apr; Vol. 32 (4), pp. 271-283. Date of Electronic Publication: 2022 Feb 25.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Dystrophy, Duchenne*/diagnosis
Muscular Dystrophy, Duchenne*/drug therapy
Drug Evaluation ; Humans ; Physical Therapy Modalities
Czasopismo naukowe
Tytuł :
Serum miRNAs as biomarkers for the rare types of muscular dystrophy.
Autorzy :
Koutsoulidou A; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus.
Koutalianos D; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus.
Georgiou K; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus.
Kakouri AC; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Department of Neurogenetics, The Cyprus Institute of Neurology and Genetics, P.O. Box 2346, Nicosia 1683, Cyprus.
Oulas A; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus.
Tomazou M; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Department of Neurogenetics, The Cyprus Institute of Neurology and Genetics, P.O. Box 2346, Nicosia 1683, Cyprus.
Kyriakides TC; Yale Center for Analytical Sciences, Yale School of Public Health, 300 George Street, Suite 555, New Haven CT 06520, United States.
Roos A; Department of Neuropediatrics, University Hospital Essen, Duisburg-Essen University, Germany; Childrens Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Papadimas GK; Department of Neurology, Eginitio hospital, Medical School of Athens, 74 Vasilissis Sofias, Athens 11528, Greece.
Papadopoulos C; Department of Neurology, Eginitio hospital, Medical School of Athens, 74 Vasilissis Sofias, Athens 11528, Greece.
Kararizou E; Department of Neurology, Eginitio hospital, Medical School of Athens, 74 Vasilissis Sofias, Athens 11528, Greece.
Spyrou GM; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Department of Bioinformatics, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus.
Zamba Papanicolaou E; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Electromyography (EMG) Laboratory, The Cyprus Institute of Neurology and Genetics, P.O. Box 2346, Nicosia 1683, Cyprus.
Lochmüller H; Childrens Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada; Centro Nacional de Análisis Genómico, Center for Genomic Regulation (CNAG-CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain.
Phylactou LA; Department of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus; Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, 6 Iroon Avenue, 2371 Ayios Dometios, PO Box 23462, Nicosia 1683, Cyprus. Electronic address: .
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Apr; Vol. 32 (4), pp. 332-346. Date of Electronic Publication: 2022 Mar 11.
Typ publikacji :
Journal Article
MeSH Terms :
MicroRNAs*/blood
MicroRNAs*/genetics
Muscular Dystrophies, Limb-Girdle*/blood
Muscular Dystrophies, Limb-Girdle*/diagnosis
Muscular Dystrophies, Limb-Girdle*/genetics
Muscular Dystrophy, Facioscapulohumeral*/blood
Muscular Dystrophy, Facioscapulohumeral*/diagnosis
Muscular Dystrophy, Facioscapulohumeral*/genetics
Myotonic Dystrophy*/blood
Myotonic Dystrophy*/diagnosis
Myotonic Dystrophy*/genetics
Biomarkers/blood ; Humans
Czasopismo naukowe
Tytuł :
Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.
Autorzy :
Bhatnagar C; Department of Pediatrics, Neurology and Pathology, Division of Genetics and Genomic Medicine, University of California, Irvine School of Medicine, 101 The City Drive South, ZC4482, Orange, CA, USA.
Shah J; Department of Pediatrics, Neurology and Pathology, Division of Genetics and Genomic Medicine, University of California, Irvine School of Medicine, 101 The City Drive South, ZC4482, Orange, CA, USA.
Ramani B; Department of Pediatrics, Neurology and Pathology, Division of Genetics and Genomic Medicine, University of California, Irvine School of Medicine, 101 The City Drive South, ZC4482, Orange, CA, USA.
Surampalli A; Department of Pediatrics, Neurology and Pathology, Division of Genetics and Genomic Medicine, University of California, Irvine School of Medicine, 101 The City Drive South, ZC4482, Orange, CA, USA.
Avanti M; Department of Pediatrics, Neurology and Pathology, Division of Genetics and Genomic Medicine, University of California, Irvine School of Medicine, 101 The City Drive South, ZC4482, Orange, CA, USA.
Radom-Aizik S; Pediatric Exercise & Genomics Research Center, Department of Pediatrics, University of California, Irvine, USA.
Knight M; Department of Pediatrics, Neurology and Pathology, Division of Genetics and Genomic Medicine, University of California, Irvine School of Medicine, 101 The City Drive South, ZC4482, Orange, CA, USA.
Weiss L; Department of Pediatrics, Neurology and Pathology, Division of Genetics and Genomic Medicine, University of California, Irvine School of Medicine, 101 The City Drive South, ZC4482, Orange, CA, USA.
Caiozzo V; Department of Orthopedic Surgery, University of California, Irvine, USA.
Kimonis V; Department of Pediatrics, Neurology and Pathology, Division of Genetics and Genomic Medicine, University of California, Irvine School of Medicine, 101 The City Drive South, ZC4482, Orange, CA, USA; Department of Neurology, University of California, Irvine School of Medicine, Orange, CA, USA; Department of Pathology & Laboratory Medicine, University of California, Irvine School of Medicine, Orange, CA, USA. Electronic address: .
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Apr; Vol. 32 (4), pp. 284-294. Date of Electronic Publication: 2022 Feb 17.
Typ publikacji :
Journal Article
MeSH Terms :
Glycogen Storage Disease Type II*
Resistance Training*
Enzyme Replacement Therapy ; Humans ; Pilot Projects ; alpha-Glucosidases/therapeutic use
Czasopismo naukowe
Tytuł :
Instrumental activities of daily living in adults with the DM1 childhood phenotype: going beyond motor impairments.
Autorzy :
Muslemani S; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, Québec, Canada; Centre de recherche Charles-Le-Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé, Université de Sherbrooke, Québec, Canada.
Gagnon C; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, Québec, Canada; Centre de recherche Charles-Le-Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé, Université de Sherbrooke, Québec, Canada.
Gallais B; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, Québec, Canada; Centre de recherche Charles-Le-Moyne-Saguenay-Lac-Saint-Jean sur les innovations en santé, Université de Sherbrooke, Québec, Canada; ÉCOBES - Recherche et transfert, Cégep de Jonquière, Québec, Canada. Electronic address: .
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Apr; Vol. 32 (4), pp. 313-320. Date of Electronic Publication: 2022 Feb 13.
Typ publikacji :
Journal Article
MeSH Terms :
Motor Disorders*
Myotonic Dystrophy*
Activities of Daily Living ; Child ; Cross-Sectional Studies ; Female ; Humans ; Male ; Phenotype
Czasopismo naukowe
Tytuł :
Excitability properties of mouse and human skeletal muscle fibres compared by muscle velocity recovery cycles.
Autorzy :
Suetterlin KJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; AGE Research Group, NIHR Newcastle Biomedical Research Centre, Newcastle upon Tyne Hospitals NHS Foundation Trust and Newcastle University, Newcastle upon Tyne, United Kingdom. Electronic address: .
Männikkö R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
Matthews E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Atkinson Morley Neuromuscular Centre, Department of Neurology, St Georges University Hospitals NHS Foundation Trust, London, United Kingdom.
Greensmith L; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
Bostock H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
Tan SV; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology and Clinical Neurophysiology, Guy's & St Thomas' NHS Foundation Trust and Institute of Psychiatry, Psychology & Neuroscience, Division of Neuroscience, King's College London, United Kingdom.
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Apr; Vol. 32 (4), pp. 347-357. Date of Electronic Publication: 2022 Feb 26.
Typ publikacji :
Journal Article
MeSH Terms :
Channelopathies*
Hypokalemic Periodic Paralysis*
Myotonia Congenita*
Humans ; Muscle Fibers, Skeletal/physiology ; Muscle, Skeletal/physiology
Czasopismo naukowe

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies