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 diseases

مصطلحات 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

المؤلفون: Russell Lane, Isabelle Pénisson-Besnier, Wojtek Rakowicz, Charlotte K. Brierley, Cheryl Longman, Fiona Norwood, Andrew P. Jackson, Dieter Gläser, Matt Parton, Rumaisa Bashir, David Hilton-Jones, Debbie Hicks, Benedikt Schoser, Marcus Deschauer, Paul Maddison, John Nixon, Laura E. Rufibach, Meriel McEntagart, Isabel Illa, John McConville, Rita Barresi, John B Winer, Herbert Schreiber, Grainne S. Gorman, Laurence A. Bindoff, Christopher J Price, Hanns Lochmüller, Partha Ray, Simon Hammans, David Cottrell, Mark Roberts, Anthony H.V. Schapira, J. Hudson, Francesco Muntoni, Elizabeth Harris, Jay Panicker, Richard Walters, Ali Al-Memar, Robert G. Cooper, Esther Hwang, Sabine Krause, Pamela J. Shaw, Robert J. Swingler, Michelle Eagle, Bertold Schrank, Anna Sarkozy, Andrew W. Gibson, Maggie C. Walter, Richard E. Petty, Michael G. Hanna, Kathryn R. Wagner, Chris Turner, Peter Van den Bergh, Aijaz Khan, Geraldine Bailey, Michela Guglieri, NP Davies, Kate Bushby, Volker Straub, Jürgen Seeger, Liesbeth De Waele, Steve Laval, Douglass M. Turnbull

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Human Mutation, Vol. 34, no.8, p. 1111-1118 (2013)
Human mutation, 2013, Vol.34(8), pp.1111-1118 [Peer Reviewed Journal]
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: muscular dystrophy, Adult, Male, medicine.medical_specialty, Anoctamins, Gene mutation, Biology, ANO5, medicine.disease_cause, Exon, Sex Factors, Chloride Channels, Internal medicine, Prevalence, Genetics, medicine, Muscular dystrophy, Humans, Allele, Myopathy, Genetics (clinical), Retrospective Studies, Aged, LGMD2L, Mutation, Clinical pathology, Gender, Genetic Variation, Middle Aged, medicine.disease, Europe, Phenotype, Muscular Dystrophies, Limb-Girdle, Female, medicine.symptom, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de3e6e91bac2c99f929b8cc933a27687Test
https://doi.org/10.1002/humu.22342Test

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

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

المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs School for Mental Health and Neuroscience, University of Zurich, Olesen, J

المصدر: European Neuropsychopharmacology, 21, 718-79
EUROPEAN NEUROPSYCHOPHARMACOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
European neuropsychopharmacology
European Neuropsychopharmacology, 21(10), 718-779. Elsevier
European Neuropsychopharmacology, 21, 10, pp. 718-79
European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
European Neuropsychopharmacology, Bd. 21 (2011), Nr. 10, S. 718–779, ISSN: 0924-977X
Gustavsson, A, Svensson, M, Jacobi, F, Allgulander, C, Alonso, J, Beghi, E, Dodel, R, Ekman, M, Faravelli, C, Fratiglioni, L, Gannon, B, Jones, D H, Jennum, P, Jordanova, A, Jönsson, L, Karampampa, K, Knapp, M, Kobelt, G, Kurth, T, Lieb, R, Linde, M, Ljungcrantz, C, Maercker, A, Melin, B, Moscarelli, M, Musayev, A, Norwood, F, Preisig, M, Pugliatti, M, Rehm, J, Salvador-Carulla, L, Schlehofer, B, Simon, R, Steinhausen, H-C, Stovner, L J, Vallat, J-M, den Bergh, P V, van Os, J, Vos, P, Xu, W, Wittchen, H-U, Jönsson, B, Olesen, J & on behalf of the CDBE2010 study group 2011, ' Cost of disorders of the brain in Europe 2010 ', European Neuropsychopharmacology, vol. 21, no. 10, pp. 718-779 . https://doi.org/10.1016/j.euroneuro.2011.08.008Test

مصطلحات موضوعية: Male, Total cost, Neurological disorder, Neuroinformatics [DCN 3], 2738 Psychiatry and Mental Health, Indirect costs, Cost of Illness, ddc:150, Prevalence, 2736 Pharmacology (medical), Medicine, Pharmacology (medical), Child, Aged, 80 and over, Brain Diseases, education.field_of_study, 10093 Institute of Psychology, Mental Disorders, Pharmacology. Therapy, Health Care Costs, Middle Aged, 10058 Department of Child and Adolescent Psychiatry, Europe, Psychiatry and Mental health, Eating disorders, 3004 Pharmacology, 2728 Neurology (clinical), Neurology, Child, Preschool, Female, Public Health, 2803 Biological Psychiatry, Adult, medicine.medical_specialty, Adolescent, Population, 610 Medicine & health, Prevalence of mental disorders, Humans, Prevalence, Mental disorders, Neurological disorders, Disorders of the brain, Europe, education, Psychiatry, Biological Psychiatry, Aged, Pharmacology, business.industry, Infant, Newborn, Infant, Prävalenz, Psychische Störungen, Neurologische Störungen, Gehirnerkrankungen, Europa, medicine.disease, Personality disorders, Mood disorders, 2808 Neurology, Neurology (clinical), Health Expenditures, 150 Psychology, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::183d40ed1422d3dcf9960531d3aaf331Test
https://doi.org/10.1016/j.euroneuro.2011.08.008Test

المؤلفون: E. Morra, E. Evers, A. Hahn, Claudia Sommer, Richard A. C. Hughes, Carol L. Koski, Peter Van den Bergh, Jean Marc Léger, Eduardo Nobile-Orazio, John D. Pollard, Robert D M Hadden, Pierre Bouche, Pieter A. van Doorn, David R. Cornblath, Isabel Illa, Ivo N. van Schaik

المساهمون: AII - Amsterdam institute for Infection and Immunity, ANS - Amsterdam Neuroscience, Neurology

المصدر: Journal of the peripheral nervous system, 15(4), 295-301. Wiley-Blackwell
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

مصطلحات موضوعية: medicine.medical_specialty, diagnosis, multifocal motor neuropathy, Advisory Committees, MEDLINE, Mismatch negativity, Polyneuropathies, Physical medicine and rehabilitation, Peripheral nerve, definition, Humans, Medicine, guidelines, Peripheral Nerves, Societies, Medical, First revision, treatment, Task force, business.industry, General Neuroscience, Disease Management, Guideline, medicine.disease, Europe, Systematic review, Practice Guidelines as Topic, Physical therapy, Neurology (clinical), Nervous System Diseases, business, Multifocal motor neuropathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d09fd115e568aec033fbe9966f82bf4Test
https://doi.org/10.1111/j.1529-8027.2010.00290.xTest

المؤلفون: Thibaut Leemrijse, Antoine de Gheldere, Paolo Simoni, Frédéric Lecouvet, Jacques Malghem, Bruno Vande Berg, Peter Van den Bergh, Christine Galant, Patrick Omoumi

المصدر: Skeletal Radiology. 39:381-386

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Time Factors, Tarsal Joints, Subtalar joint, parasitic diseases, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Cyst, Tarsal tunnel, Arthrography, Ganglion Cysts, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Tarsal Joint, Anatomy, Tarsal tunnel syndrome, Middle Aged, medicine.disease, Radiographic Image Enhancement, body regions, Ganglion cyst, medicine.anatomical_structure, sense organs, Radiology, Tomography, Tomography, X-Ray Computed, business, Tarsal Tunnel Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90261229c295e4a62661072f005d3b79Test
https://doi.org/10.1007/s00256-009-0864-xTest

المؤلفون: Luc Kevers, Philippe Hantson, Peter Van den Bergh, Nicole Fabien

المصدر: Muscle & Nerve. 41:423-426

مصطلحات موضوعية: medicine.medical_specialty, Lupus erythematosus, Guillain-Barre syndrome, Physiology, business.industry, Respiratory disease, Dysautonomia, Polyradiculoneuropathy, Chronic inflammatory demyelinating polyneuropathy, medicine.disease, Connective tissue disease, Gastroenterology, Cellular and Molecular Neuroscience, Respiratory failure, Physiology (medical), Internal medicine, Immunology, medicine, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9adb59da41213979d2ad5b4391765925Test
https://doi.org/10.1002/mus.21543Test

المؤلفون: Laure Vandervelde, Jean-Louis Thonnard, Massimo Penta, Peter Van den Bergh

المساهمون: UCL - (SLuc) Service de médecine physique et de réadaptation motrice, UCL - SSS/IONS/COSY - Systems & cognitive Neuroscience, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 81, no. 5, p. 506-512 (2010)

مصطلحات موضوعية: Questionnaires, Male, Adult, Aging, medicine.medical_specialty, Activities of daily living, Neuromuscular disease, Adolescent, media_common.quotation_subject, Item discrimination, Young Adult, Grip strength, Surveys and Questionnaires, Activities of Daily Living, medicine, Humans, Young adult, Child, Physical Therapy Modalities, Language, Aged, media_common, Paediatric patients, Rasch model, Reproducibility of Results, Neuromuscular Diseases, Middle Aged, medicine.disease, Psychiatry and Mental health, Motor Skills, Data Interpretation, Statistical, Physical therapy, Female, Surgery, Aptitude, Neurology (clinical), Psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b48c8502e1a986f947a6859176febf41Test
https://doi.org/10.1136/jnnp.2009.177055Test

المؤلفون: Jean-Louis Thonnard, Delphine Dispa, Laure Vandervelde, 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: Archives of Physical Medicine and Rehabilitation, Vol. 89, no. 9, p. 1720-1723 (2008)

مصطلحات موضوعية: Questionnaires, Male, Adult, medicine.medical_specialty, Self Disclosure, Activities of daily living, Intraclass correlation, medicine.medical_treatment, Psychological intervention, Physical Therapy, Sports Therapy and Rehabilitation, Disability Evaluation, Surveys and Questionnaires, Activities of Daily Living, Humans, Outcome assessment (health care), Medicine, In patient, Aged, Aged, 80 and over, Analysis of Variance, Rehabilitation, business.industry, Neuromuscular Diseases, Middle Aged, University hospital, Differential item functioning, Task performance and analysis, Self-disclosure, Physical therapy, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::115495bd128926bf82a03a379e32cddeTest
https://doi.org/10.1016/j.apmr.2008.01.024Test

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