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المؤلفون: Joan Fabregat, Carlos Casasnovas, Richard C. Daly, Bo Göran Ericzon, Laura Lladó, John J. Poterucha, Jan Lerut, Marie Tranäng, Julie K. Heimbach, Jose Gonzalez Costello, Peter Van den Bergh, Maxime Foguenne, Adriano-Valerio Schettini, Olivier Van Caenegem
المساهمون: UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, UCL - SSS/IONS/COSY - Systems & cognitive Neuroscience, UCL - (SLuc) Service de soins intensifs, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service de neurologie
المصدر: Hepatobiliary & Pancreatic Diseases International, Vol. 20, no. 4, p. 323-329 (2021)
مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, Cardiomyopathy, Hereditary transthyretin amyloidosis, Liver transplantation, Heart transplantation, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Medicine, Humans, Prealbumin, Amyloid Neuropathies, Familial, Hepatology, biology, business.industry, Amyloidosis, Hypertrophic cardiomyopathy, Non-Val30Met mutation, Autosomal dominant trait, medicine.disease, Liver Transplantation, Transplantation, Transthyretin, Early Diagnosis, Domino liver transplantation, 030220 oncology & carcinogenesis, biology.protein, 030211 gastroenterology & hepatology, Val122del mutation, business, Cardiomyopathies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad5bee945941ae32ebbe287a31ee37fcTest
https://hdl.handle.net/2078.1/248202Test -
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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 Investigationمصطلحات 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 -
3Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy
المؤلفون: Maike F. Dohrn, Matthias Vorgerd, Joachim Weis, Jan De Bleecker, Peter Van den Bergh, Kristl G. Claeys, Jörg B. Schulz, Jean-Jacques Martin, Katrin Hinderhofer, Andreas Ferbert, Christoph Röcken, J. Michael Schröder
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Journal of Neurology : official journal of the European Neurological Society, Vol. 260, no.12, p. 3093-3108 (2013)
Journal of neurologyمصطلحات موضوعية: Tafamidis, Male, Pathology, medicine.medical_specialty, endocrine system, Late onset, chemistry.chemical_compound, Medicine, Humans, Ataxic Gait, Age of Onset, Aged, Aged, 80 and over, Amyloid Neuropathies, Familial, biology, business.industry, Autosomal dominant trait, nutritional and metabolic diseases, medicine.disease, Pedigree, Amyloid Neuropathy, Transthyretin, Neurology, chemistry, biology.protein, Disease Progression, Female, Neurology (clinical), Human medicine, Age of onset, business, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfd25c49dcccba3278d8c90be0daa5f6Test
https://pubmed.ncbi.nlm.nih.gov/24101130Test -
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المؤلفون: Yusuf A. Rajabally, Peter Van den Bergh
المصدر: Presse medicale (Paris, France : 1983). 42(6 Pt 2)
مصطلحات موضوعية: medicine.medical_specialty, Nerve biopsy, biology, medicine.diagnostic_test, business.industry, Prevalence, Disease Management, Peripheral Nervous System Diseases, Polyradiculoneuropathy, General Medicine, Disease, Gold standard (test), medicine.disease, Gastroenterology, Pathophysiology, Pathogenesis, Treatment Outcome, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Internal medicine, biology.protein, Medicine, Humans, Immunotherapy, Antibody, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24adb898fff4325bd3aa1b3c2de19723Test
https://pubmed.ncbi.nlm.nih.gov/23623582Test -
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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 -
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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