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المؤلفون: Peter Van den Bergh, Vincent Van Pesch, Nicolas Dubuisson
المصدر: Muscle & Nerve. 56:828-832
مصطلحات موضوعية: Physiology, Elbow, Electromyography, Fasciculation, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), medicine, Humans, 030212 general & internal medicine, medicine.diagnostic_test, business.industry, Neuromuscular Diseases, Motor conduction block, Middle Aged, medicine.disease, Median Nerve, body regions, Axilla, medicine.anatomical_structure, Cramp fasciculation syndrome, Anesthesia, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Multifocal motor neuropathy, Thenar eminence
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::153303633a7beed216344e5ad578df7bTest
https://doi.org/10.1002/mus.25528Test -
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المؤلفون: James Miller, Richard A. C. Hughes, Peter Van den Bergh, Gwendal Le Masson, Masahiro Iijima, Annie Dionne, Jérôme De Seze, Timothy Day, Norman Latov, Ewa Motta, David R. Cornblath, Alain Maertens de Noordhout, Ingemar S. J. Merkies, S. Larue, Jens Ejbye Schmidt, Jean-Marc Léger, Stanley Iyadurai, Hans-Peter Hartung, Carolyn Marie Ervin, Anthony A. Amato, Rup Tandan, Judith Spies, Krzysztof Selmaj, William Camu, Michel Melanson, Vivian E. Drory, Masahiro Mori, Eduardo Nobile-Orazio, Waldemar Fryze, Martin Merschhemke, Marinos C. Dalakas, Masayuki Baba, Martin M. Brown, James Holt, John Kelemen, Antonio Guerrero Sola, Thomas H. Brannagan, Jean Pouget, Victoria Lawson, Tomoko Okamoto, Philip Van Damme, Susumu Kusunoki, Khema Sharma, Joab Chapman, Mark Gudesblatt, Carlos Casasnovas, Vasilios K Kimiskidis, Kourosh Rezania, Gen Sobue, Leslie Roberts, Isabel Illa, Angela Genge, Rami Massie, Ivo N. van Schaik, Raffaella Fazio, Catharina G. Faber, Francesca Gallia, Michael P. Lunn, Catherine Agoropoulou
المساهمون: Centre d'Immunologie et de Maladies Infectieuses (CIMI), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, McGill University
المصدر: The Lancet Neurology
The Lancet Neurology, Elsevier, 2018, 17 (8), pp.689--698. ⟨10.1016/S1474-4422(18)30202-3⟩
Lancet Neurology, 17(8), 689-698. Elsevier Scienceمصطلحات موضوعية: FTY720, Male, [SDV]Life Sciences [q-bio], law.invention, Disability Evaluation, Electrocardiography, 0302 clinical medicine, Randomized controlled trial, law, Adrenal Cortex Hormones, Clinical endpoint, Medicine, Data monitoring committee, 030212 general & internal medicine, Chronic Inflammatory Demyelinating, Hand Strength, Middle Aged, Fingolimod, 3. Good health, LYMPHOCYTE, Treatment Outcome, Administration, GRIP STRENGTH, Female, Intravenous, Immunosuppressive Agents, medicine.drug, Oral, Adult, medicine.medical_specialty, Polyradiculoneuropathy, Immunoglobulins, CIDP, Placebo, 03 medical and health sciences, Double-Blind Method, Internal medicine, Fingolimod Hydrochloride, Humans, Aged, Proportional Hazards Models, NEUROPATHIES, business.industry, Interim analysis, Discontinuation, Neurology (clinical), RELAPSING MULTIPLE-SCLEROSIS, business, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22492e836639116d2d45267972e919e9Test
https://hal.archives-ouvertes.fr/hal-02317675Test -
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المؤلفون: Shirin Jamal-Omidi, L. Phillips, Anna Kostera-Pruszczyk, Nanna Witting, Miren Zulaica Ijurco, Maja von der Hagen, Ana Töpf, Kristl G. Claeys, Jaume Colomer, Monkol Lek, Shahriar Nafissi, L. Xu, Daniel G. MacArthur, Elise Valkanas, Jonathan Baets, Anna Potulska-Chromik, Volker Straub, Anna Łusakowska, Peter Van den Bergh, Sonja Strang-Karlsson, Thomas E. Mullen, John Vissing, Marta Bertoli, Juan Bautista Espinal Valencia, Carina Wallgren-Pettersson, Willem De Ridder, Hacer Durmus, Tracey Willis, Katherine Johnson, Andreas Hahn, Roberto Fernández-Torrón, Nicolas Deconinck
المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents
المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscleمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION
وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test -
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المؤلفون: Radim Mazanec, Luciano Merlini, Eva Nelis, Peter Van den Bergh, Anne-Marie Jacobs, Andrzej Kochański, Joy Irobi, Vincent Timmerman, Dirk Fischer, Jonathan Baets, Wim Robberecht, Tine Deconinck, Albena Jordanova, Pavel Seeman, Els De Vriendt, Raul Juntas Morales, Michaela Auer-Grumbach, Zoran Mitrović, John H. J. Wokke, Ines Dierick, Vedrana Milic Rasic, A. T. J. M. Helderman-van den Enden, Peter De Jonghe
المصدر: Brain
مصطلحات موضوعية: Male, Genotype, HSP27 Heat-Shock Proteins, Mutation, Missense, Biology, Protein Serine-Threonine Kinases, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, GTP-Binding Protein gamma Subunits, medicine, Missense mutation, Humans, Heat-Shock Proteins, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Base Sequence, Genetic heterogeneity, Mosaicism, Chromosomes, Human, Pair 11, Haplotype, DNA Helicases, Spinal muscular atrophy, VAPB, medicine.disease, Multifunctional Enzymes, 3. Good health, Neoplasm Proteins, Pedigree, DCTN1, Electrophysiology, Phenotype, Haplotypes, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery, RNA Helicases, Molecular Chaperones, Distal HMN, BSCL2, HSPB1, HSPB8, SETX, Marie-Tooth-disease, amyotrophic-lateral-sclerosis, spinal muscular-atrophy, SEIP congenital lipodystrophy, familial spastic paraplegia, RNA synthetase mutations, sensory neuron diseases, HMN type-V, Silver-syndrome, electrophysiologic findings
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6e645225795d20a3d550af3d87b80dfTest
http://doc.rero.ch/record/299093/files/awn029.pdfTest -
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المؤلفون: Fabrice Michel, Cristina Domínguez-González, Gabriel Viennet, H. Orhan Akman, Johanna Nilsson, Carola Hedberg-Oldfors, Cornelia Kornblum, Aurelio Hernández-Laín, Salvatore DiMauro, Norma B. Romero, Peter Van den Bergh, Anders Oldfors, Andrew G. Engel, Edoardo Malfatti
المصدر: Annals of Neurology. 76:891-898
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Glycogenin, Skeletal muscle, Biology, Compound heterozygosity, medicine.disease, 3. Good health, Glycogen debranching enzyme, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine.anatomical_structure, Neurology, Internal medicine, medicine, biology.protein, Glycogen storage disease, Neurology (clinical), medicine.symptom, Myopathy, Glycogen synthase, GSK3B, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5cf0f6d180b7e5aae9952ad294fc083dTest
https://doi.org/10.1002/ana.24284Test -
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المصدر: Acta Neurologica Belgica. 117:555-557
مصطلحات موضوعية: 0301 basic medicine, Brachial Plexus Neuritis, Neuralgic amyotrophy, medicine.medical_specialty, Neurology, medicine.diagnostic_test, Gabapentin, business.industry, Magnetic resonance imaging, General Medicine, medicine.disease_cause, Hepatitis E, medicine.disease, Virology, Dermatology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Hepatitis E virus, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Neuroradiology, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2a7d34ab2842c554c496c5482953eabeTest
https://doi.org/10.1007/s13760-016-0642-1Test -
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المؤلفون: Antje Bornemann, Lukas J. Schnitzler, Christian Hartmann, Peter De Jonghe, Jens Reimann, Peter Van den Bergh, Andreas Meisel, Jörg B. Schulz, Jens A. Petersen, Aleksandra Nadaj-Pakleza, Joachim Weis, Philip Van Damme, Kristl G. Claeys, Andreas Ferbert, Elisabeth J. Rushing, Tobias Schreckenbach, Thomas Tousseyn, Jean-Jacques Martin, Werner Stenzel, Dietmar Rudolf Thal, Susanne Petri
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, University of Zurich, Claeys, Kristl G
المصدر: Orphanet Journal of Rare Diseases, Vol. 12, no.1, p. 86 (2017)
Orphanet Journal of Rare Diseases, Vol. 12, no. 1, p. 86 [1-12] (2017)
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 12(1), 86 (2017). doi:10.1186/s13023-017-0640-2
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)
Orphanet journal of rare diseasesمصطلحات موضوعية: HIV-NM, 2716 Genetics (clinical), Weakness, Paraproteinemia, Pathology, medicine.medical_specialty, HIV-associated nemaline myopathy, lcsh:Medicine, 610 Medicine & health, Late onset, Review, Muscle disorder, Myopathies, Nemaline, SLONM, 03 medical and health sciences, 0302 clinical medicine, Nemaline myopathy, Atrophy, medicine, 2736 Pharmacology (medical), Animals, Humans, Pharmacology (medical), ddc:610, Age of Onset, Myopathy, Genetics (clinical), Immunosuppression Therapy, Muscle biopsy, medicine.diagnostic_test, business.industry, Muscles, lcsh:R, Monoclonal gammopathy, High-Throughput Nucleotide Sequencing, General Medicine, medicine.disease, 10040 Clinic for Neurology, 030220 oncology & carcinogenesis, NGS, Immunology, MGUS, Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery, Stem Cell Transplantation
وصف الملف: Electronic; application/pdf; s13023-017-0640-2.pdf - application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db244b832f5e53bcd295a37183776f6bTest
https://hdl.handle.net/2078.1/185606Test -
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المؤلفون: Peter Van den Bergh, Jean-Louis Thonnard, Massimo Penta, Philip Van Damme, Anna J. Roy, Charles Sèbiyo Batcho
المساهمون: Reproduction and Genetics, Neurogenetics, Clinical sciences, UCL - SSS/IONS/COSY - Systems & cognitive Neuroscience, UCL - (SLuc) Centre de référence neuromusculaire, Louvain Bionics - Center of Interdisciplinary Expertise, UCL - (SLuc) Service de médecine physique et de réadaptation motrice, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Neuromuscular Disorders, Vol. 26, no. 3, p. 211-220 (2016)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Activities of daily living, Psychometrics, Adolescent, Severity of Illness Index, 03 medical and health sciences, Disability Evaluation, 0302 clinical medicine, Physical medicine and rehabilitation, Severity of illness, Activities of Daily Living, Medicine, Humans, In patient, 030212 general & internal medicine, Medical diagnosis, Child, Genetics (clinical), Reliability (statistics), Aged, Rasch model, business.industry, Research Support, Non-U.S. Gov't, Rasch analysis, Neuromuscular Diseases, Patient-reported outcome measure, Middle Aged, Activity limitations, Neuromuscular diseases, Neurology, Pediatrics, Perinatology and Child Health, Cohort, young adult, Female, Neurology (clinical), reproducibility of results, business, aged, 80 and over, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e355bdb5d8f0a89621262734b0ade861Test
https://biblio.vub.ac.be/vubir/how-robust-is-activlim-for-the-followup-of-activity-limitations-in-patients-with-neuromuscular-diseasesTest(5dd31c61-a31e-4274-b77c-2df1f016ed60).html -
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المؤلفون: Georges Mer, Kaori Hojo, Shana L. Merrill, Jessica Deleon, Peter Van den Bergh, Maria Victoria Botuyan, Noah Beadell, Inès Mademan, Christopher J. Klein, Gregory A. Worrell, Yanhong Wu, Henry Houlden, Nicole McGrath, Jan Senderek, Gordon Smith, Jonathan Baets, Xiaohui Duan, Mary M. Reilly, Julie Khoury, Murray Grossman, Joachim Weis, Matilde Laura, William W. Seeley, Steven S. Scherer, Peter De Jonghe, Yo Tsen Liu, Peter J. Dyck
المصدر: Brain
مصطلحات موضوعية: Adult, DNA (Cytosine-5-)-Methyltransferase 1, Male, Bioinformatics, medicine.disease_cause, environment and public health, Protein Structure, Secondary, 03 medical and health sciences, 0302 clinical medicine, Autosomal dominant cerebellar ataxia, Hereditary sensory and autonomic neuropathy, medicine, Autophagy, Humans, DNA (Cytosine-5-)-Methyltransferases, Cognitive decline, Hereditary Sensory and Autonomic Neuropathies, Cognitive deficit, Cellular localization, 030304 developmental biology, Aged, Genetics, 0303 health sciences, Mutation, Cerebellar ataxia, urogenital system, Original Articles, Middle Aged, medicine.disease, 3. Good health, Pedigree, HEK293 Cells, embryonic structures, Female, Neurology (clinical), Human medicine, medicine.symptom, Nervous System Diseases, Psychology, 030217 neurology & neurosurgery, Narcolepsy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98f4def148fad12e85799ea261ea18ddTest
https://pubmed.ncbi.nlm.nih.gov/25678562Test -
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المؤلفون: Peter Van den Bergh, Sabrina Sacconi, Andreas Ferbert, Matthias Vorgerd, Markus Bergmann, Jörg B. Schulz, Joachim Weis, Jean-Jacques Martin, Marcus Deschauer, J Elisa Bach, Peter De Jonghe, Jan Bürmann, Wolfram Kress, Kristl G. Claeys, Eva Neuen-Jacob, J. Michael Schröder, Anna-Lena Semmler, Rudolf A. Kley, Claus Liebe, Roland Anderheiden, Oliver J. Müller
المساهمون: Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.121
Orphanet Journal of Rare Diseases, Vol. 9, p. 121 [1-13] (2014)
Orphanet journal of rare diseases 9(1), 121 (2014). doi:10.1186/s13023-014-0121-9
Orphanet journal of rare diseases
Orphanet journal of rare diseases 9, 121 (2014). doi:10.1186/s13023-014-0121-9مصطلحات موضوعية: Male, Pathology, bcl-2 associated athanogene protein 3, 610 Medical sciences Medicine, 0302 clinical medicine, Genetics(clinical), Pharmacology (medical), FLNC, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Genetics, Medicine(all), 0303 health sciences, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, Phenotype, Pedigree, 3. Good health, Mutation (genetic algorithm), Female, Protein aggregation, Polyneuropathy, Myopathies, Structural, Congenital, Adult, medicine.medical_specialty, Adolescent, Next generation sequencing, Biology, MFM, Hearing impairment, Young Adult, 03 medical and health sciences, medicine, Humans, ddc:610, Muscle, Skeletal, Gene, Adaptor Proteins, Signal Transducing, Aged, 030304 developmental biology, Nerve biopsy, Genetic heterogeneity, Research, medicine.disease, Human genetics, Mutation, Human medicine, Apoptosis Regulatory Proteins, 030217 neurology & neurosurgery
وصف الملف: application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb47c88657f1d9f8b9fc70a4ba9888e7Test
https://hal.archives-ouvertes.fr/hal-01117408Test