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: 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: Katsiaryna Belaya, Samuel I. Pascual-Pascual, Timothy J. Walls, Sarah Finlayson, Judith Cossins, Fiona Norwood, David Beeson, Janice L. Holton, Jacqueline Palace, G Burke

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Neuromuscular disease, Glycosylation, Biopsy, DNA Mutational Analysis, Neuromuscular Junction, Neuropathology, N-Acetylglucosaminyltransferases, Neuromuscular junction, Diagnosis, Differential, health services administration, medicine, Potassium Channel Blockers, Humans, Albuterol, Exome, Repetitive nerve stimulation, Genetic Testing, 4-Aminopyridine, Age of Onset, Myopathy, Muscle, Skeletal, Adrenergic beta-2 Receptor Agonists, health care economics and organizations, Motor Neurons, Myasthenic Syndromes, Congenital, Neurologic Examination, Muscle biopsy, medicine.diagnostic_test, business.industry, DPAGT1, Congenital myasthenic syndrome, Middle Aged, medicine.disease, Psychiatry and Mental health, medicine.anatomical_structure, Phenotype, Surgery, Female, Neurology (clinical), Cholinesterase Inhibitors, medicine.symptom, Amifampridine, business, Pyridostigmine Bromide

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e5c08aca72a52869d0f6ff6aede3768
https://doi.org/10.1136/jnnp-2012-304716

المؤلفون: Bjarne Udd, Bruno Eymard, Rosaline Quinlivan, Giorgio Tasca, Taneli Raivio, Lars Edström, Ibrahim Mahjneh, Anni Evilä, Maxwell S. Damian, Fiona Norwood, Frédéric Chevessier, Rolf Schröder, Caroline Sewry, Françoise Chapon, Andoni Echaniz-Laguna, Johanna Palmio, Fengqing Xiang, Jocelyn Laporte, Anders Oldfors, Andrés Berardo, Peter Hackman, Ana Lia Taratuto, Mikko Kärppä, Philipp Gölitz, Matthias Tuerk, Johanna Tommiska, Pascal Laforêt, Jose Antonio Bueri, Carola Hedberg, Björn Brådvik

المصدر: Journal of Neurology, Neurosurgery and Psychiatry; 85(3), pp 345-353 (2014)

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neuromuscular disease, GENETICS, medicine.disease_cause, symbols.namesake, MYOPATHY, Medizinische Fakultät, medicine, EPIDEMIOLOGY, ddc:610, Myopathy, Genotyping, Exome sequencing, Genetics, Sanger sequencing, Mutation, Muscle biopsy, medicine.diagnostic_test, biology, business.industry, medicine.disease, 3. Good health, Psychiatry and Mental health, Neurology, biology.protein, symbols, Surgery, Titin, Neurology (clinical), medicine.symptom, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ad8ad10a4331ae3127102355335c445
https://lup.lub.lu.se/record/4417638

المؤلفون: Paul Maddison, NP Davies, Michael R. Rose, Heinz Jungbluth, Maria Elena Farrugia, Stephanie Robb, Fiona Norwood, John McConville, David Hilton-Jones

المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 82:671-673

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Neuromuscular disease, Adolescent, medicine.medical_treatment, Population, Targeted therapy, Antibodies, Monoclonal, Murine-Derived, immune system diseases, Myasthenia Gravis, Humans, Immunologic Factors, Medicine, Receptors, Cholinergic, Child, education, Retrospective Studies, education.field_of_study, business.industry, Receptor Protein-Tyrosine Kinases, Retrospective cohort study, Middle Aged, Protein-Tyrosine Kinases, medicine.disease, Myasthenia gravis, Lambert-Eaton Myasthenic Syndrome, Psychiatry and Mental health, Child, Preschool, Monoclonal, Immunology, Female, Surgery, Rituximab, Neurology (clinical), business, Lambert-Eaton myasthenic syndrome, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a89da80ca10a33d163a4f5a9f6233faa
https://doi.org/10.1136/jnnp.2009.197632

المؤلفون: A. F. J. E. Vrancken, Philip M. Hopkins, S. Lillis, Volker Straub, Martin Lammens, K. G. Stewart, Shehla Mohammed, Heinz Jungbluth, Stephen Abbs, Mark R. Davis, Adnan Y. Manzur, Ros Quinlivan, Gea Drost, Susan Treves, B.G.M. van Engelen, W. L. van der Pol, Elizabeth Wraige, Mark Roberts, Erik-Jan Kamsteeg, Andrew T. King, Shu Yau, Nicol C. Voermans, M. Snoeck, Aleksandar Radunovic, Fiona Norwood, R.I. de Coo, Nomazulu Dlamini, Francesco Muntoni

المساهمون: Neurology

المصدر: Neuromuscular Disorders, 23, 540-8
Neuromuscular Disorders, 23, 7, pp. 540-8
Neuromuscular Disorders, 23(7), 540-548. Elsevier Ltd.

مصطلحات موضوعية: Male, myalgia, Heterozygote, medicine.medical_specialty, Weakness, Pathology, Neuromuscular disease, DCN MP - Plasticity and memory, Rhabdomyolysis, Genomic disorders and inherited multi-system disorders [IGMD 3], Internal medicine, medicine, Humans, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Exercise, Genetics (clinical), RYR1, calmodulina recettore d ella rianodina, Exercise-induced rhabdomyolysis, business.industry, Malignant hyperthermia, Ryanodine Receptor Calcium Release Channel, medicine.disease, Phenotype, Human Movement & Fatigue [DCN MP - Plasticity and memory NCEBP 10], Neurology, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, Malignant Hyperthermia, business, Central core disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b3146925dbd644076fa5b782e3b4522
http://hdl.handle.net/2066/118833