المؤلفون: Philippe Hantson, Xavier Wittebole, Nicolas De Schryver, Peter Van den Bergh, Vincent Haufroid, Eric Goffin

المساهمون: UCL - (SLuc) Service de soins intensifs, UCL - (SLuc) Centre de référence neuromusculaire, UCL - SSS/IREC/LTAP - Louvain Centre for Toxicology and Applied Pharmacology, UCL - SSS/IREC/NEFR-Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, UCL - SSS/IREC/MEDA - Pôle de médecine aiguë, UCL - (SLuc) Service de biochimie médicale

المصدر: Case Reports in Nephrology, Vol. 2015, p. 761393 [1-4] (2015)
Case Reports in Nephrology, Vol 2015 (2015)
Case Reports in Nephrology

مصطلحات موضوعية: business.industry, nutritional and metabolic diseases, Case Report, Pharmacology, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, lcsh:RC870-923, Ciprofloxacin, Nephrology, Simvastatin, Toxicity, Genetic predisposition, Medicine, lipids (amino acids, peptides, and proteins), Amlodipine, medicine.symptom, business, Myopathy, Rhabdomyolysis, Adverse drug reaction, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a335607cf331a7b35f0f60bbdb46d5bdTest
https://hdl.handle.net/2078.1/158875Test

المؤلفون: Johan Vanderfaeillie, Harm Damen, Frank Van Holen, Huub Pijnenburg, Peter Van Den Bergh

المساهمون: Klinische en Levenslooppsychologie

المصدر: Vrije Universiteit Brussel

مصطلحات موضوعية: foster care, plaatsingsbeslissing, placement decision making, dissafected/protected, pleegzorg

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::434814b35212d4135edd16c72f750917Test
https://biblio.vub.ac.be/vubir/indicatiestelling-voor-pleegzorg-exploratief-onderzoek-naar-plaatsingsafwegingen-in-vlaanderen-en-in-nederlandTest(6ac40c89-5607-4aba-9da7-577c3eea87f3).html

المؤلفون: Satoshi Kuwabara, Akira Inaba, Sonoko Misawa, Masahiro Sonoo, Yasunori Sato, Toshio Shimizu, Yusuf A. Rajabally, Tetsuo Komori, Vinciane Van Parijs, Darren Martin-Lamb, Satsuki Mitsuma, Sagiri Isose, Peter Van den Bergh

المصدر: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. 126(9)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Diabetic neuropathy, Internationality, Adolescent, Neural Conduction, Action Potentials, Chronic inflammatory demyelinating polyneuropathy, Young Adult, Japan, Physiology (medical), Internal medicine, medicine, Humans, Duration data, Prospective Studies, Prospective cohort study, Child, Aged, Aged, 80 and over, business.industry, Electromyography, Filter (signal processing), Middle Aged, medicine.disease, Sensory Systems, Compound muscle action potential, Surgery, Europe, Neurology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Duration (music), Reference values, Cardiology, Female, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b507d5ee3f185dbbbb96dd65d7f2efdTest
https://pubmed.ncbi.nlm.nih.gov/25591830Test

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/s13023-014-0121-9

مصطلحات 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

المؤلفون: Anna Päivikki Onnela, Marie-Françoise Vincent, Nicolas Cecere, Corinne Hubinont, Philippe Hantson, Peter Van den Bergh, Arnauld Kabulu Kadingi

المصدر: Case Reports in Obstetrics and Gynecology
Case Reports in Obstetrics and Gynecology, Vol 2013 (2013)

مصطلحات موضوعية: Pregnancy, Pediatrics, medicine.medical_specialty, Sodium bicarbonate, business.industry, Metabolic disorder, Obstetrics and Gynecology, Anion gap, Case Report, Metabolic acidosis, medicine.disease, lcsh:Gynecology and obstetrics, Tachypnea, chemistry.chemical_compound, chemistry, Anesthesia, medicine, Fetal distress, Ketonuria, medicine.symptom, business, lcsh:RG1-991

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9e766316823505683e1a14cfbfb10e3Test
https://doi.org/10.1155/2013/847942Test

المؤلفون: Veerle Van Gerwen, Vincent Timmerman, Klaus Wagner, Luciano Merlini, Christian Windpassinger, Christine Verellen, Albena Jordanova, Peter Van den Bergh, Ines Dierick, Michaela Auer-Grumbach, Nathalie Verpoorten, Lionel Van Maldergem, Els De Vriendt, Joy Irobi, Peter De Jonghe

المصدر: Brain

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Adolescent, BSCL2, Russell-Silver Syndrome, Biology, Seipin, Genetic Heterogeneity, Distal amyotrophy, GTP-Binding Protein gamma Subunits, medicine, Humans, Spasticity, Child, Leg, Muscle Weakness, Spastic Paraplegia, Hereditary, Genetic heterogeneity, Muscle weakness, Syndrome, Middle Aged, Hand, Amyotrophy, medicine.disease, Pedigree, Muscular Atrophy, Phenotype, Muscle Spasticity, Mutation, Neurology (clinical), medicine.symptom, Hereditary Sensory and Motor Neuropathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5d903fcfbe019ecee37090c8ea6959Test
https://doi.org/10.1093/brain/awh232Test

المؤلفون: Peter Van den Bergh, F Piéret

المصدر: Muscle & Nerve. 29:565-574

مصطلحات موضوعية: medicine.medical_specialty, Guillain-Barre syndrome, Electrodiagnosis, medicine.diagnostic_test, Physiology, business.industry, Polyradiculoneuropathy, medicine.disease, Surgery, Central nervous system disease, Cellular and Molecular Neuroscience, Degenerative disease, Physiology (medical), Diabetes mellitus, Internal medicine, medicine, Neurology (clinical), Amyotrophic lateral sclerosis, business, Polyneuropathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a60226b366acf1147ef7a47aab347727Test
https://doi.org/10.1002/mus.20022Test

المؤلفون: Giancarlo Comi, Hugh J. Willison, Costas Kilindireas, Richard A. C. Hughes, Paul McCrone, Isabel Illa, A. V. Swan, Martin Knapp, Marinos C. Dalakas, Daniel Chisholm, Peter Van den Bergh, Eduardo Nobile-Orazio

المصدر: European Journal of Neurology. 10:687-694

مصطلحات موضوعية: Cost–utility analysis, medicine.medical_specialty, Pediatrics, business.industry, Polyradiculoneuropathy, Cost-effectiveness analysis, medicine.disease, Crossover study, Quality-adjusted life year, Neurology, Quality of life, hemic and lymphatic diseases, Economic evaluation, medicine, Physical therapy, Prednisolone, Neurology (clinical), business, health care economics and organizations, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::832a40be253757fcb409688418f81378Test
https://doi.org/10.1046/j.1351-5101.2003.00701.xTest

المؤلفون: Nuria Muelas, Zohar Argov, Juan J. Vílchez, Sini Penttilä, Volker Straub, Carsten Bonneman, Patricia G. Wheeler, Kathryn R. Wagner, Phillipa J. Lamont, Rebecca Gooding, Kym M. Boycott, Gerald F. Cox, Alan H. Beggs, Jahannaz Dastgir, Alexandru Barboi, Anne M. Connolly, David Hilton-Jones, E. Schmedding, Johanna Palmio, Elizabeth T. DeChene, NP Davies, Heinz Jungbluth, Tiina Suominen, Bjarne Udd, Kate Bushby, Peter Van den Bergh, William Wallefeld, Nigel G. Laing, Elizabeth Wraige, Christopher Staples

المساهمون: Neuroprotection & Neuromodulation

المصدر: Human mutation. 35(7)

مصطلحات موضوعية: Proband, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Child, preschool, Biopsy, DNA Mutational Analysis, Cardiomyopathy, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Myosin, Genetics, medicine, Missense mutation, Humans, Myopathy, Child, Muscle, Skeletal, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, Myosin Heavy Chains, Infant, Newborn, Skeletal muscle, Infant, Middle Aged, medicine.disease, Immunohistochemistry, 3. Good health, Distal Myopathies, medicine.anatomical_structure, Phenotype, young adult, MYH7, Female, medicine.symptom, mutation, Cardiac Myosins, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95d5f95eec553d1cc27eafb63d53104cTest
http://ora.ox.ac.uk/objects/uuid:95321b62-c413-45d4-81cd-c9728f1b6a5fTest

المؤلفون: David Chitayat, Judith Melki, Monkol Lek, Stefanie M. Novak, Leigh B. Waddell, Norma B. Romero, Edoardo Malfatti, Jérome Maluenda, Adele D'Amico, Peter J. Houweling, Stacey Gabriel, Livija Medne, Vandana Gupta, Eva Holmberg, Katarina Pelin, James J. Dowling, Carina Wallgren-Pettersson, Ann E. Davidson, Enrico Bertini, Nicole Martin, William R. Telfer, David S. Gokhin, Velia M. Fowler, Yukiko K. Hayashi, Namrata Gupta, Daniel G. MacArthur, Carsten G. Bönnemann, Brett Thomas, Nigel F. Clarke, Ichizo Nishino, Kathryn N. North, Christopher T. Pappas, Carol C. Gregorio, Nigel G. Laing, Lindsay C. Swanson, Catherine A. Brownstein, Darcée D. Sloboda, Pablo Lapunzina, Patrick Shannon, Kate G. R. Quinlan, Natalia Moroz, Coen A.C. Ottenheijm, Alla S. Kostyukova, Peter Van den Bergh, David P. Bick, Ozge Ceyhan-Birsoy, Sarah A. Sandaradura, Annie Laquerrière, Emily J. Todd, Vilma Lotta Lehtokari, Mark J. Daly, Biljana Ilkovski, Alan H. Beggs, Michaela Yuen, Anders Flisberg, Flora Nolent, Gianina Ravenscroft

المساهمون: Department of Medical and Clinical Genetics, Biosciences, Genetics, Faculty of Biological and Environmental Sciences, Haartman Institute (-2014), Physiology, ICaR - Heartfailure and pulmonary arterial hypertension

المصدر: Yuen, M, Sandaradura, S A, Dowling, J J, Kostyukova, A S, Moroz, N, Quinlan, K G, Lehtokari, V L, Ravenscroft, G, Todd, E J, Ceyhan-Birsoy, O, Gokhin, D S, Maluenda, J, Lek, M, Nolent, F, Pappas, C T, Novak, S M, D'Amico, A, Malfatti, E, Thomas, B P, Gabriel, S B, Gupta, N, Daly, M J, Ilkovski, B, Houweling, P J, Davidson, A E, Swanson, L C, Brownstein, C A, Gupta, V A, Medne, L, Shannon, P, Martin, N, Bick, D P, Flisberg, A, Holmberg, E, van den Bergh, P, Lapunzina, P, Waddell, L B, Sioboda, D D, Bertini, E, Chitayat, D, Telfer, W R, Laquerriere, A, Gregorio, C C, Ottenheijm, C A C, Bonnemann, C G, Pelin, K, Beggs, A H, Hayashi, Y K, Romero, N B, Laing, N G, Nishino, I, Wallgren-Pettersson, C, Melki, J, Fowler, V M, MacArthur, D G, North, K N & Clarke, N F 2014, ' Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy ', Journal of Clinical Investigation, vol. 124, no. 11, pp. 4693-4708 . https://doi.org/10.1172/JCI75199Test
Journal of Clinical Investigation, 124(11), 4693-4708. The American Society for Clinical Investigation

مصطلحات موضوعية: Male, Pathology, DNA Mutational Analysis, Gene Expression, Muscle Proteins, TROPOMODULIN, Myopathies, Nemaline, 0302 clinical medicine, Nemaline myopathy, Myofibrils, LENGTH, Cells, Cultured, Zebrafish, 0303 health sciences, biology, Homozygote, Microfilament Proteins, Cardiac muscle, General Medicine, Cell biology, DEFICIENCY, POLYMERIZATION, medicine.anatomical_structure, Gene Knockdown Techniques, SKELETAL-MUSCLE, Female, Corrigendum, Tropomodulin, Research Article, POINTED-END, Heterozygote, medicine.medical_specialty, education, Mutation, Missense, Muscle disorder, ACTIN, 03 medical and health sciences, medicine, Animals, Humans, Genetic Predisposition to Disease, Muscle, Skeletal, Nemaline bodies, Genetic Association Studies, Actin, 030304 developmental biology, MUTATIONS, MUSCLE ALPHA-TROPOMYOSIN, Skeletal muscle, medicine.disease, Congenital myopathy, Actins, 3121 General medicine, internal medicine and other clinical medicine, N-TERMINUS, biology.protein, 3111 Biomedicine, Protein Multimerization, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59db3702ea8ec1b098d927c5634cb1caTest
https://research.vumc.nl/en/publications/3c042b02-2e92-4398-85b4-5ec89870e352Test