المؤلفون: Dirk Loeckx, Steffen Fieuws, Carla Verpoorten, Maria van Helvoirt, Walter Coudyzer, Nathalie Goemans, Francis de Zegher, Kristina Casteels

المصدر: Pediatric diabetes. 11(1)

مصطلحات موضوعية: Blood Glucose, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Muscle disorder, Overweight, Intra-Abdominal Fat, Weight Gain, Body Mass Index, Insulin resistance, Weight loss, Diabetes mellitus, Internal medicine, Internal Medicine, medicine, Humans, Hypoglycemic Agents, Insulin, Obesity, Child, Spinal Dysraphism, business.industry, medicine.disease, Metformin, Muscular Dystrophy, Duchenne, Endocrinology, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, Metabolic syndrome, Insulin Resistance, business, Weight gain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::038e03e98715a16d2f815ed9c73428c1Test
https://pubmed.ncbi.nlm.nih.gov/19496972Test

المؤلفون: Annelies Renders, P. Van den Bergh, Nathalie Goemans, J-L Thonnard, Laure Vandervelde

المساهمون: UCL - MD/IEPR - Institut d'éducation physique et de réadaptation, UCL - MD/NOPS - Département de neurologie et de psychiatrie, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Service de médecine physique et de réadaptation motrice

المصدر: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 80, no. 3, p. 326-332 (2009)

مصطلحات موضوعية: Questionnaires, Male, Adult, medicine.medical_specialty, Neuromuscular disease, Activities of daily living, Adolescent, Statistics as Topic, Manual Muscle Testing, Grip strength, Young Adult, Disability Evaluation, Physical medicine and rehabilitation, Surveys and Questionnaires, Hand strength, Activities of Daily Living, medicine, Humans, In patient, Muscle Strength, Mobility Limitation, Child, Gait, Aged, Patient Care Team, Aged, 80 and over, Hand Strength, Walking test, Neuromuscular Diseases, Middle Aged, medicine.disease, Psychiatry and Mental health, Physical therapy, Surgery, Female, Neurology (clinical), Psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ebe4b5fd35c597e9c23ceef73920d1Test
https://hdl.handle.net/2078.1/19653Test

المؤلفون: Yaqun Zou, Nathalie Goemans, Janbernd Kirschner, Joachim Schessl, Ying Hu, Alexandra I Magold, Carsten G. Bönnemann, Raphael Sciot

المصدر: Musclenerve. 38(3)

مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Indoles, Physiology, Biopsy, Muscle Fibers, Skeletal, Collagen Type VI, Cellular and Molecular Neuroscience, Atrophy, Collagen VI, Physiology (medical), Internal medicine, medicine, Humans, Myotonic Dystrophy, Myopathy, Adenosine Triphosphatases, Myosin Heavy Chains, business.industry, Skeletal muscle, Infant, Amyotrophy, medicine.disease, Ullrich disease, Muscular Atrophy, Endocrinology, medicine.anatomical_structure, Child, Preschool, Congenital muscular dystrophy, Female, Neurology (clinical), Laminin, medicine.symptom, business, Congenital disorder

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d8e2d08766e57d45cda0046c4209ae2Test
https://pubmed.ncbi.nlm.nih.gov/18720506Test

المؤلفون: Nathalie Goemans, Jean-Louis Thonnard, Peter Van den Bergh, Laure Vandervelde

المساهمون: UCL - (SLuc) Service de médecine physique et de réadaptation motrice, UCL - MD/IEPR - Institut d'éducation physique et de réadaptation, UCL - MD/NOPS - Département de neurologie et de psychiatrie, UCL - (SLuc) Service de neurologie

المصدر: Neuromuscular Disorders, Vol. 19, no. 2, p. 99-103 (2009)

مصطلحات موضوعية: Questionnaires, Adult, Male, medicine.medical_specialty, Activities of daily living, Adolescent, Duchenne muscular dystrophy, Myotonic dystrophy, Disability Evaluation, Young Adult, Charcot-Marie-Tooth Disease, Predictive Value of Tests, Surveys and Questionnaires, Activities of Daily Living, medicine, Humans, Myotonic Dystrophy, Young adult, Muscular dystrophy, Child, Genetics (clinical), Gait Disorders, Neurologic, Paresis, Aged, Aged, 80 and over, Muscle Weakness, business.industry, Muscle weakness, Neuromuscular Diseases, Middle Aged, medicine.disease, Muscular Dystrophy, Duchenne, Neurology, Predictive value of tests, Pediatrics, Perinatology and Child Health, Physical therapy, Disease Progression, Female, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d2476af9af619ab197ad1f8fb08349Test
https://pubmed.ncbi.nlm.nih.gov/19167889Test

المؤلفون: Edna H. Venneker, Jan J.G.M. Verschuuren, Anneke A.M. Janson, Ieke B. Ginjaar, Gert-Jan B. van Ommen, Nathalie Goemans, Annemieke Aartsma-Rus, Johan T. den Dunnen, Klaas Koop, Mattie Bremmer-Bout, Anneke J. van der Kooi, Peter F. Ekhart, Judith C.T. van Deutekom, Wendy S. Frankhuizen, Sjef J. de Kimpe, Gerard Johannes Platenburg

المساهمون: ANS - Amsterdam Neuroscience, Neurology

المصدر: New England journal of medicine, 357(26), 2677-2686. Massachussetts Medical Society

مصطلحات موضوعية: Male, musculoskeletal diseases, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Transcription, Genetic, RNA Splicing, Oligonucleotides, Eteplirsen, Injections, Intramuscular, Dystrophin, Exon, Tibialis anterior muscle, Internal medicine, medicine, Humans, RNA, Messenger, Muscular dystrophy, Child, Drisapersen, Sequence Deletion, biology, business.industry, General Medicine, Exons, Oligonucleotides, Antisense, medicine.disease, Molecular biology, Exon skipping, Muscular Dystrophy, Duchenne, Endocrinology, Drug Design, RNA splicing, biology.protein, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43d50c5a2f7bc34966d6030680869fd5Test
https://pure.amc.nl/en/publications/local-dystrophin-restoration-with-antisense-oligonucleotide-pro051Test(3d145de3-17de-4987-8fad-3e5f1ab44c97).html

المؤلفون: Laure Vandervelde, Nathalie Goemans, Jean-Louis Thonnard, Peter Van den Bergh

المساهمون: UCL - MD/IEPR - Institut d'éducation physique et de réadaptation, UCL - MD/NOPS - Département de neurologie et de psychiatrie, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Service de médecine physique et de réadaptation motrice

المصدر: Neuromuscular Disorders, Vol. 17, no. 6, p. 459-469 (2007)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Activities of daily living, Psychometrics, Adolescent, Disability and Health (ICF), International Classification of Functioning, Age and gender, Disability Evaluation, Sickness Impact Profile, Activities of Daily Living, medicine, Humans, Child, Genetics (clinical), Motor score, Aged, Aged, 80 and over, Measure (data warehouse), Rasch model, Models, Statistical, Rasch analysis, Reproducibility of Results, Neuromuscular Diseases, Middle Aged, Functional Independence Measure, Health Surveys, Activity limitations, Outcome assessment, Neurology, Scale (social sciences), Pediatrics, Perinatology and Child Health, Physical therapy, Female, Neurology (clinical), Psychology, Neuromuscular disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfcb0d2a78090f10b9a9f50fca1b67c8Test
https://pubmed.ncbi.nlm.nih.gov/17433675Test

المؤلفون: Radim Mazanec, Nathalie Goemans, Albena Jordanova, H.-J. Christen, Christine Verellen, James R. Lupski, Jan De Bleecker, Paolo Vinci, Matthias Van Hul, Kristien Verhoeven, Rudy Van Coster, Els De Vriendt, Andrzej Kochański, Wim Robberecht, Jeffery M. Vance, Velina Guergueltcheva, Peter De Jonghe, Ian J. Butler, Gulam Mustafa Saifi, Peter Vieregge, Vedrana Milic Rasic, Filip Roelens, J. Michael Schröder, Eva Nelis, Chantal Ceuterick, Kristl Claeys, Pavel Seeman, Kinga Szigeti, Barbara Ryniewicz, Pedro Mancias, Stephan Züchner, Yoram Nevo, I. Tournev, Vincent Timmerman, María Teresa García Moreno, Michaela Auer-Grumbach, Joachim Weis, Peter Van den Bergh, Michael E. Shy

المصدر: Brain

مصطلحات موضوعية: Pathology, medicine.disease_cause, Severity of Illness Index, GTP Phosphohydrolases, 0302 clinical medicine, Degenerative disease, Charcot-Marie-Tooth Disease, Genotype, mitofusin 2, Age of Onset, Child, 0303 health sciences, Mutation, education.field_of_study, Middle Aged, Electrophysiology, medicine.anatomical_structure, Phenotype, Child, Preschool, Sensory nerve, Adult, medicine.medical_specialty, Adolescent, Population, Sural nerve, Biology, genotype-phenotype correlation, Mitochondrial Proteins, 03 medical and health sciences, Atrophy, atrophy, Sural Nerve, medicine, features, Humans, education, gene, 030304 developmental biology, Aged, Membrane Proteins, medicine.disease, charcot-marie-tooth type 2, mitofusin-2, Surgery, Microscopy, Electron, disease type-2, neuropathy, Neurology (clinical), Age of onset, 030217 neurology & neurosurgery

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fbd19685d12f10b9f298f3ffdd049b5Test
https://pubmed.ncbi.nlm.nih.gov/16714318Test

المؤلفون: Davide Pareyson, Vidmer Scaioli, Nathalie Verpoorten, Thomas R. Pieber, Nathalie Goemans, Kristl Claeys, Michaela Auer-Grumbach, Katrien Coen, Gunnar M. Buyse, Eva Nelis, P. De Jonghe, W. Salmhofer, Vincent Timmerman, Matilde Laura

المصدر: Neurology

مصطلحات موضوعية: Adult, Male, Genotype, Nerve Tissue Proteins, Protein Serine-Threonine Kinases, Biology, medicine.disease_cause, Compound heterozygosity, Minor Histocompatibility Antigens, Exon, WNK Lysine-Deficient Protein Kinase 1, Hereditary sensory and autonomic neuropathy, medicine, HSN2, Humans, Hereditary Sensory and Autonomic Neuropathies, Gene, Sequence Deletion, Genetics, Mutation, Chromosomes, Human, Pair 12, Base Sequence, Genetic Carrier Screening, Intracellular Signaling Peptides and Proteins, Chromosome Mapping, Exons, Middle Aged, medicine.disease, Phenotype, Introns, Pedigree, Female, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b94b6b17c4c81b75102bd3402ec67a87Test
https://hdl.handle.net/10067/567770151162165141Test

المؤلفون: Ana, Ferreiro, Chantal, Ceuterick-de Groote, Jared J, Marks, Nathalie, Goemans, Gudrun, Schreiber, Folker, Hanefeld, Michel, Fardeau, Jean-Jacques, Martin, Hans H, Goebel, Pascale, Richard, Pascale, Guicheney, Carsten G, Bönnemann

المصدر: Annals of neurology. 55(5)

مصطلحات موضوعية: Adult, Male, Base Sequence, Molecular Sequence Data, Muscle Proteins, Proteins, Desmin, Pedigree, Muscular Diseases, Child, Preschool, Mutation, Humans, Female, Child, Selenoproteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::925a452369928a4e3751b46363863461Test
https://pubmed.ncbi.nlm.nih.gov/15122708Test

المؤلفون: Liese Verstraete, Hilde Feys, Katrijn Klingels, Charlotte Peeters, Marleen Van den Hauwe, Gunnar Buyse, Nathalie Goemans, Stefanie Boons

المساهمون: Schuelke, Markus

المصدر: PLoS ONE
PLoS ONE, Vol 8, Iss 12, p e84120 (2013)

مصطلحات موضوعية: Male, Percentile, medicine.medical_specialty, Anatomy and Physiology, Science, Population, Walking, Developmental and Pediatric Neurology, Social and Behavioral Sciences, Pediatrics, Muscular Dystrophies, Child Development, Predictive Value of Tests, Reference Values, Outcome Assessment, Health Care, Humans, Medicine, Sports and Exercise Medicine, Exercise physiology, Child, education, Musculoskeletal System, Exercise, education.field_of_study, Models, Statistical, Multidisciplinary, Anthropometry, business.industry, Age Factors, Neuromuscular Diseases, Test (assessment), Muscular Dystrophy, Duchenne, Neurology, Anthropology, Child, Preschool, Predictive value of tests, Reference values, Ambulatory, Exercise Test, Physical therapy, Physiotherapy and Rehabilitation, Physical Anthropology, business, Research Article

وصف الملف: Electronic-eCollection

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0c25a0a7d454c409bf86723cbcfdda7Test
https://doi.org/10.1371/journal.pone.0084120Test