المؤلفون: Benedikt Schoser, Wolfgang Müller-Felber, Angela Vincent, Detlef Claus, Christian Kubisch, Giuseppe Vita, David Hilton-Jones, Hans H. Goebel, Saiju Jacob, Antonio Toscano, Peter Van den Bergh

المصدر: Neuromuscular disorders : NMD. 19(3)

مصطلحات موضوعية: myalgia, Adult, Male, Pathology, medicine.medical_specialty, Caveolin 3, Immunogenic, medicine.medical_treatment, Muscle Fibers, Skeletal, Muscle Proteins, Caveolin-3, Myasthenia gravis, Rippling muscle disease, Therapy, Azathioprine, Thymus Gland, Gene mutation, Biology, Caveolae, Dysferlin, Muscular Diseases, Myasthenia Gravis, medicine, Humans, Muscle, Skeletal, Genetics (clinical), Aged, Autoantibodies, Sarcolemma, Electromyography, Autoantibody, Plasmapheresis, Middle Aged, medicine.disease, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Female, Steroids, Neurology (clinical), Cholinesterase Inhibitors, medicine.symptom, medicine.drug, Follow-Up Studies, Muscle Contraction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c384b86b02ed288872375b4a96f3adc4Test
https://pubmed.ncbi.nlm.nih.gov/19208478Test

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: 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: Caroline Sewry, Peter Van den Bergh, Francesco Muntoni, Corrado Angelini, Salla Ranta, Vilma Lotta Lehtokari, Kati Donner, Kate Bushby, Katarina Pelin, Susan T. Iannaccone, Nigel G. Laing, Carina Wallgren-Pettersson, Maria Sandbacka

المصدر: Human mutation. 27(9)

مصطلحات موضوعية: Male, Nonsense mutation, DNA Mutational Analysis, Muscle Proteins, Genes, Recessive, Biology, Compound heterozygosity, Myopathies, Nemaline, 03 medical and health sciences, Exon, Nebulin, 0302 clinical medicine, Tropomyosin binding, Nemaline myopathy, Genetics, medicine, Humans, Point Mutation, Frameshift Mutation, Genetics (clinical), Chromatography, High Pressure Liquid, 030304 developmental biology, 0303 health sciences, Point mutation, Exons, medicine.disease, Molecular biology, Exon skipping, Introns, 3. Good health, Codon, Nonsense, biology.protein, Female, RNA Splice Sites, 030217 neurology & neurosurgery, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a256f7181c370426ab73d084036ea4Test
https://pubmed.ncbi.nlm.nih.gov/16917880Test

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: Thomas D. Bird, Pavel Seeman, Huy M. Huynh, Valerie A. Street, Radim Mazanec, Tomas Prochazka, Phillip F. Chance, Craig L. Bennett, Vincent Timmerman, Lionel Van Maldergem, Ivailo Tournev, Peter De Jonghe, Albena Jordanova, Andrew J. Shirk, Jana Haberlová, Eva Nelis, Velina Guergueltcheva, Michael D. Weiss, Peter Van den Bergh, Ivo Kremensky

المصدر: Annals of neurology. 55(5)

مصطلحات موضوعية: Proband, Male, Pathology, medicine.medical_specialty, Single-nucleotide polymorphism, Biology, medicine.disease_cause, Charcot-Marie-Tooth Disease, medicine, Missense mutation, Humans, Late endosome, Aged, Mutation, Haplotype, Nuclear Proteins, Middle Aged, medicine.disease, Sciatic Nerve, Pedigree, Peripheral neuropathy, Neurology, Female, Neurology (clinical), Sciatic nerve, Neuroscience, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24f9d14155a1200c226c4a890201d496Test
https://pubmed.ncbi.nlm.nih.gov/15122712Test

المؤلفون: J. Delbecq, A. Depre, Peter Van den Bergh, M. Gille

المصدر: Journal of Neurology. 242:478-480

مصطلحات موضوعية: medicine.medical_specialty, Sciatic Neuropathy, Neurology, business.industry, Public health, Heroin, Emergency medicine, Medicine, Heroin overdose, Neurology (clinical), business, medicine.drug, Neuroradiology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::737f6edacdaf23ad60ca33f79ed27a6bTest
https://doi.org/10.1007/bf00873553Test

المؤلفون: Peter Hackman, Sylvie Marchand, Bjarne Udd, Peter Van den Bergh, Isabelle Richard, Olivier Bouquiaux, Christine Verellen

المصدر: Annals of neurology. 54(2)

مصطلحات موضوعية: Male, medicine.medical_specialty, DNA Mutational Analysis, Muscle Proteins, Locus (genetics), Biology, Asymptomatic, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Tibialis anterior muscle, Belgium, Internal medicine, medicine, Humans, Point Mutation, Connectin, Family, Muscular dystrophy, Myopathy, Muscle, Skeletal, Creatine Kinase, Gait Disorders, Neurologic, 030304 developmental biology, Subclinical infection, Aged, 0303 health sciences, Leg, Electromyography, Anatomy, DNA, Exons, Middle Aged, medicine.disease, Penetrance, Pedigree, stomatognathic diseases, Neurology, biology.protein, Titin, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, human activities, Protein Kinases, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbb5d62d3982a7bd5711ab5ba1d94b92Test
https://pubmed.ncbi.nlm.nih.gov/12891679Test

المؤلفون: Maura Pugliatti, R. Dodel, Beatrice Melin, Bengt Jönsson, Gisela Kobelt, Weili Xu, Christina Ljungcrantz, Laura Fratiglioni, Jean Michel Vallat, Christer Allgulander, Frank Jacobi, Martin Preisig, Jim van Os, Roland Simon, Poul Jennum, Lars Jacob Stovner, Luis Salvador-Carulla, Jordi Alonso, Hans-Ulrich Wittchen, Fiona Norwood, David P.H. Jones, Carlo Faravelli, Peter Van den Bergh, Ettore Beghi, Albena Jordanova, Brigitte Schlehofer, Hans-Christoph Steinhausen, Anders Gustavsson, Roselind Lieb, Andreas Maercker, Juergen Rehm, Korinna Karampampa, Pieter E. Vos, Brenda Gannon, Amir Musayev, Jes Olesen, Mattias Ekman, Mattias Linde, Tobias Kurth, Martin Knapp, Linus Jönsson, Mikael Svensson, Massimo Moscarelli

المصدر: European Neuropsychopharmacology. 22:237-238

مصطلحات موضوعية: Pharmacology, Psychiatry and Mental health, medicine.medical_specialty, Neurology, business.industry, medicine, Pharmacology (medical), Neurology (clinical), business, Psychiatry, Biological Psychiatry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0b1053853f6462d69efa2612b18bcc4aTest
https://doi.org/10.1016/j.euroneuro.2012.01.001Test

المؤلفون: Giancarlo, Comi, Luisa, Roveri, Antony, Swan, Hugh, Willison, Martin, Bojar, Isabel, Illa, Clementine, Karageorgiou, Eduardo, Nobile-Orazio, Peter, van den Bergh, Tony, Swan, Richard, Hughes, Jaques, Aubry, Nicole, Baumann, Robert, Hadden, Michael, Lunn, Martin, Knapp, Jean-Marc, Léger, Pierre, Bouche, Radim, Mazanec, Nicoletta, Meucci, Frans, van der Meché, Klaus, Toyka

مصطلحات موضوعية: Male, medicine.medical_specialty, Paraproteinemias, Polyradiculoneuropathy, Placebo, law.invention, Route of administration, Grip strength, Disability Evaluation, Randomized controlled trial, Double-Blind Method, law, hemic and lymphatic diseases, Internal medicine, medicine, Humans, Intravenous immunoglobulin, Paraproteinaemic demyelinating neuropathy, Adverse effect, Aged, Cross-Over Studies, business.industry, Immunoglobulins, Intravenous, medicine.disease, Crossover study, Surgery, Clinical trial, Peripheral neuropathy, Treatment Outcome, Neurology, Immunoglobulin M, Female, Settore MED/26 - Neurologia, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b3eed6b37dce47e06de45a49e87447dTest
http://hdl.handle.net/2434/15224Test