المؤلفون: Brunhilde Wirth, Sabrina W. Yum, Homa Tajsharghi, Alistair T. Pagnamenta, Andrea H. Németh, Carsten G. Bönnemann, Elgar G, Marks P, Francisca Millan, J Rankin, Matteo P. Ferla, Kaiyrzhanov R, Lassche S, Orioli A, Jenny C. Taylor, Khalid A. Fakhro, Carlo Marcelis, O'Donnell M, Henry Houlden, Chiara Marini-Bettolo, Z Zolkipli-Cunningham, Arianna Tucci, Reza Maroofian, Adam Giess, Heinz Jungbluth, Lavin T, Behnaz Ansari, Yaqun Zou, Mert Karakaya, Ali-Reza Moslemi, Beetz C, Rita Barresi, M O'Driscoll, C C Muraresku, Fiona Norwood, Gutowski N, Francesco Muntoni, A. C. Need, Natalia Dominik, Keivan Basiri, Brusius I, S B Neuhaus, Lauffer M, Andrea Cortese, A.R. Foley, Mary M. Reilly, Anna Sarkozy, Gilbert Wunderlich, Fernandez-Garcia Ma, Sandra Donkervoort, Sahar I. Da'as, Yip J, Maryam Sedghi, Livija Medne

المصدر: Brain
Brain, 144, 2, pp. 584-600
Brain, 144, 584-600

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Neuromuscular Junction, nerve conduction studies, Biology, 03 medical and health sciences, genetics: neuropathy, Young Adult, 0302 clinical medicine, EMG, Collagen VI, medicine, Animals, Humans, Allele, Child, Muscle, Skeletal, Allele frequency, Exome, Exome sequencing, Zebrafish, Aged, Genetics, Extracellular Matrix Proteins, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Behavior, Animal, AcademicSubjects/SCI01870, Haplotype, Original Articles, Neuromuscular Diseases, Motor neuron, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Extracellular Matrix, Pedigree, 030104 developmental biology, medicine.anatomical_structure, whole-genome sequencing, Mutation, AcademicSubjects/MED00310, Female, Neurology (clinical), Trinucleotide repeat expansion, Hereditary Sensory and Motor Neuropathy, hereditary motor and sensory neuropathies, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::282bff76a59ea521b5c9e064584e5ff3
https://pubmed.ncbi.nlm.nih.gov/33693694

المؤلفون: Richard W. Orrell, David Hilton-Jones, Judith Hudson, Hanns Lochmüller, Maggie Williams, Teresinha Evangelista, Libby Wood, Michela Guglieri, Debbie Smith, Peter Lunt, Fiona Norwood, Tracey Willis, Karen Rafferty, Roberto Fernández-Torrón

المصدر: Journal of Neurology

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, medicine.medical_specialty, Neuromuscular disease, Adolescent, Databases, Factual, Clinical Neurology, Young Adult, 03 medical and health sciences, Age Distribution, Clinical trials, 0302 clinical medicine, Quality of life, Surveys and Questionnaires, medicine, Humans, Facioscapulohumeral muscular dystrophy, Registries, Young adult, Child, Aged, Retrospective Studies, Aged, 80 and over, FSHD, Original Communication, business.industry, Retrospective cohort study, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, United Kingdom, Rare diseases, 3. Good health, Clinical trial, 030104 developmental biology, Neurology, Child, Preschool, Physical therapy, Female, Data sharing, Neurology (clinical), medicine.symptom, business, Minimal dataset, 030217 neurology & neurosurgery, Natural history study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87799fd1b21132b5bbcd8cf8445c367c
https://doi.org/10.1007/s00415-016-8132-1

المؤلفون: Germán, Morís, Libby, Wood, Roberto, FernáNdez-Torrón, José Andrés, González Coraspe, Chris, Turner, David, Hilton-Jones, Fiona, Norwood, Tracey, Willis, Matt, Parton, Mark, Rogers, Simon, Hammans, Mark, Roberts, Elizabeth, Househam, Maggie, Williams, Hanns, Lochmüller, Teresinha, Evangelista

المصدر: Muscle & Nerve

مصطلحات موضوعية: Adult, Male, facioscapulohumeral dystrophy, Middle Aged, Severity of Illness Index, Muscular Dystrophy, Facioscapulohumeral, Young Adult, patient registry, quality of life, Clinical Research, patient reported outcome measures, INQoL, Humans, Female, pain, Chronic Pain, Aged, Pain Measurement

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6153eebc5ea486b06c0155344ba5ff96
https://pubmed.ncbi.nlm.nih.gov/29053898

المؤلفون: Catherine Williamson, Fiona Norwood, N. James, Mandish Dhanjal, Stephanie A. Robb, Geraldine O'Sullivan, Heinz Jungbluth, Jacqueline Palace, Pippa Kyle, David Hilton-Jones, Catherine Nelson-Piercy, Marguerite Hill

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 85:538-543

مصطلحات موضوعية: Adult, medicine.medical_specialty, Neuromuscular disease, Adolescent, Best practice, Prenatal care, Young Adult, Clinical Protocols, Pregnancy, Multidisciplinary approach, Myasthenia Gravis, Rapid access, Humans, Medicine, Young adult, Intensive care medicine, business.industry, Infant, Newborn, Prenatal Care, Delivery, Obstetric, medicine.disease, United Kingdom, Myasthenia gravis, Pregnancy Complications, Psychiatry and Mental health, Practice Guidelines as Topic, Physical therapy, Female, Surgery, Neurology (clinical), business, Immunosuppressive Agents

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e73de06d0aea0c83ccf3c4a728a8654
https://doi.org/10.1136/jnnp-2013-305572

المؤلفون: Lilli, Winter, Matthias, Türk, Patrick N, Harter, Michel, Mittelbronn, Cornelia, Kornblum, Fiona, Norwood, Heinz, Jungbluth, Christian T, Thiel, Ursula, Schlötzer-Schrehardt, Rolf, Schröder

المصدر: Acta Neuropathologica Communications

مصطلحات موضوعية: Adult, Protein aggregates, Research, Skeletal muscle, Arrhythmias, Cardiac, macromolecular substances, Mitochondria, Desmin, Young Adult, Epidermolysis bullosa simplex with muscular dystrophy, Muscular Dystrophies, Limb-Girdle, Epidermolysis Bullosa Simplex, Mutation, Humans, Plectin, Female, Intermediate filaments, Muscle, Skeletal

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::41d163e29ffba5276edf21da5617abc7
https://pubmed.ncbi.nlm.nih.gov/27121971