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المؤلفون: Ana Topf, Irina Zaharieva, Valeria Di Leo, Anna Vihola, Neha Wali, Marco Savarese, Kristen Laricchia, Cristina Venturini, Bas Vroling, Beryl Cummings, Rita Barresi, Elizabeth Harris, Chiara Marini Bettolo, Dan Cox, Jennifer Duff, Eleina England, Jane Patrick, Valerie Biancalana, Shobhana Bommireddipalli, Carsten Bonnemann, Anita Cairns, Mei Chiew, Kristl G. Claeys, Sandra Cooper, Mark R. Davis, Sandra Donkervoort, Corrie E. Erasmus, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xaviere Lornage, Wolfgang Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Marti, Tiziana Mongini, Nuria Muelas, Atsuko Nishikawa, Narumi Ogonuki, Gina O'Grady, Stephanie Paquay, Rahul Phadke, Beth Pletcher, Norma Romero, Meyke Schouten, Snehal Shah, Yves Sznajer, Giorgio Tasca, Allysa Tuite, Peter van den Bergh, Nicol Voermans, Julia Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Vilchez, Daniel Macarthur, Anna Sarkozy, Bjarne Udd, Elisabeth Busch-Nentwich, Francesco Muntoni, Volker Straub
المصدر: SSRN Electronic Journal.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a4990ec6615d442d2ddd8f92c67016bdTest
https://doi.org/10.2139/ssrn.3801723Test -
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المؤلفون: Giuseppe Liistro, William Poncin, Gregory Reychler, Nicolas Audag, Michel Toussaint, Laure Vandervelde, Christophe Goubau, Peter Van den Bergh
المساهمون: UCL - SSS/IREC/PNEU - Pôle de Pneumologie, ORL et Dermatologie, UCL - (SLuc) Département de pédiatrie, UCL - (SLuc) Service de pneumologie
المصدر: Muscle & nerve, Vol. 64, no.3, p. 277-284 (2021)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Physiology, neuromuscular diseases, 030105 genetics & heredity, Myotonic dystrophy, Severity of Illness Index, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), Internal medicine, Surveys and Questionnaires, medicine, otorhinolaryngologic diseases, Humans, Mass Screening, In patient, Amyotrophic lateral sclerosis, Adult patients, business.industry, Medical record, screening, Sydney Swallow Questionnaire, Neuromuscular Diseases, Middle Aged, medicine.disease, Sydney swallow questionnaire, Dysphagia, oropharyngeal dysphagia, Deglutition, Female, Neurology (clinical), medicine.symptom, business, Deglutition Disorders, 030217 neurology & neurosurgery, Oropharyngeal dysphagia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ecc095dbbc63fbabac183840085373dTest
https://hdl.handle.net/2078.1/260933Test -
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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: Michael Benatar, Bernhard Greve, Peter Kiessling, Melissa Brock, Henning Andersen, John Vissing, Peter Van den Bergh, Franz Woltering, Laura Griffin, Vera Bril
المصدر: Neurology.
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Placebo, medicine.disease, Gastroenterology, Myasthenia gravis, law.invention, Clinical trial, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, Multicenter trial, Internal medicine, Clinical endpoint, Medicine, 030212 general & internal medicine, Neurology (clinical), business, Generalized myasthenia, Adverse effect, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::587f79858e5ceb05d888b31a4529dbd2Test
https://doi.org/10.1212/wnl.0000000000011108Test -
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المؤلفون: Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina M. England, Kristen M. Laricchia, Thomas Mullen, Elise Valkanas, Liwen Xu, Marta Bertoli, Alison Blain, Ana B. Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso-Pérez, Jonathan Baets, Nina Barisic, Alexandra Bastian, Sabine Borell, Teodora Chamova, Kristl Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem de Ridder, Jordi Díaz-Manera, Cristina Domínguez-González, Alexis Duncan, Hacer Durmus, Nagia A. Fahmy, Maria Elena Farrugia, Roberto Fernández-Torrón, Lidia Gonzalez-Quereda, Jana Haberlova, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, Ivonne Jerico Pascual, Solange Kapetanovic, Viktorija Kenina, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera-Pruszczyk, Richa Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munain, Wolfgang Loscher, Anna Lusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, Andrés Nascimento, Shahriar Nafissi, Shirin Omidi, Carlos Ortez, Stéphanie Paquay, Yann Pereon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, Iciar Sanchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang-Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan Vílchez, Katharina Vill, John Vissing, Carina Wallgren-Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub
المساهمون: MYO-SEQ Consortium, HUSLAB, HUS Children and Adolescents, Clinicum, Medicum, Claeys, Kristl
المصدر: Genetics in medicine
Genetics in Medicine
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: 0301 basic medicine, targeted exome analysis, Neuromuscular disease, Medizin, Anoctamins, 030105 genetics & heredity, Bioinformatics, 3124 Neurology and psychiatry, DNA sequencing, Article, 03 medical and health sciences, genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, 3123 Gynaecology and paediatrics, Exome Sequencing, Medicine, Humans, Exome, Gene, Genetics (clinical), Exome sequencing, SGCA, RYR1, Genetic heterogeneity, business.industry, Sciences bio-médicales et agricoles, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Glucosyltransferases, Human medicine, business
وصف الملف: 1 full-text file(s): application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb0b77bdff412d8ddab3c132a95c157Test
https://repository.uantwerpen.be/docstore/d:irua:4405Test -
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المؤلفون: Aude-Marie Grapperon, Guillaume Nicolas, Peter Van den Bergh, John L. Woodard, Jean-Marc Raymackers, Claure Michel, F Piéret, Yusuf A. Rajabally, Shahram Attarian, Emilien Delmont, P. Jacquerye, Marion Brisset, Céline Redant, Vinciane Van Parijs, Julien Cassereau, Donatienne Verougstraete
المصدر: Muscle & Nerve. 58:23-28
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Disease onset, Guillain-Barre syndrome, Physiology, business.industry, Polyradiculoneuropathy, medicine.disease, Acute motor axonal neuropathy, Pathophysiology, 3. Good health, 03 medical and health sciences, Cellular and Molecular Neuroscience, 030104 developmental biology, 0302 clinical medicine, Muscle nerve, Electrodiagnostic testing, Physiology (medical), Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::32de6d18d33b753e63b6973bc50042b4Test
https://doi.org/10.1002/mus.26056Test -
27
المؤلفون: Filip Eftimov, Carina Bunschoten, Yusuf Rajabally, Luis Querol, Max E. Adrichem, Jeffrey Allen, Jean-Cristophe Antoine, Ivana Basta, Peter Van den Bergh, Patricia Blomkwist-Markens, Alexandra Breukel, David Cornblath, Kathrin Doppler, Stephan Goedee, Robert Hadden, Thomas Harbo, Fu Liong Hiew, Bart C. Jacobs, Helmar Lehmann, Michael P. Lunn, Ingemar S.J. Merkies, Eduardo Nobile-Orazio, Stephen Reddel, Jean-Michel Vallat, Antonino Uncini
المصدر: Neuromuscular Disorders. 28:178-184
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, International standard, MEDLINE, Biobank, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, medicine, Diagnostic data, Medical physics, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7db5408b7c5415bca8ab708876a9936fTest
https://doi.org/10.1016/j.nmd.2017.10.009Test -
28
المؤلفون: Christine Detrembleur, Thierry Lejeune, Etienne Allart, V. Kinet, Peter Van den Bergh, V. Tiffreau, André Thevenon, Anne Renders
المصدر: The Journal of the International Society of Physical and Rehabilitation Medicine, Vol 1, Iss 2, Pp 65-71 (2018)
مصطلحات موضوعية: medicine.medical_specialty, electromyography, Electromyography, Myotonic dystrophy, Physical medicine and rehabilitation, Gait (human), medicine, Treadmill, myotonic dystrophy type 1, Orthopedic surgery, medicine.diagnostic_test, business.industry, Health Policy, medicine.disease, Psychiatry and Mental health, Neuropsychology and Physiological Psychology, medicine.anatomical_structure, kinematics, kinetics, Gait analysis, gait analysis, treadmill, Medicine, Ankle, Cadence, Range of motion, business, RD701-811
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cf443fc00effd49027247ca7097a800Test
http://www.jisprm.org/article.asp?issn=2349-7904;year=2018;volume=1;issue=2;spage=65;epage=71;aulast=TiffreauTest -
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المؤلفون: Mariëlle H.J. Pruppers, Ingemar S.J. Merkies, Michael P.T. Lunn, Nicolette C. Notermans, Peter van den Bergh, Patricia Blomkwist-Markens, David Cornblath, Shirley D'Sa, Catharina Faber, Stephan Goedee, Ken Gorson, Jean-Marc Léger, Richard Lewis, Michael Lunn, Lou Mazawey, Ingemar Merkies, Eduardo Nobile-Orazio, Nicolette Notermans, Luca Padua, Ludo van der Pol, Mariëlle Pruppers, Louis Querol, Andreas Steck, Hugh Willison
المصدر: Neuromuscular Disorders. 27:1065-1072
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Anti-MAG peripheral neuropathy, Outcome measures, Future assessment, Clinical neurology, 03 medical and health sciences, Monoclonal gammopathy, 030104 developmental biology, 0302 clinical medicine, Neurology, Family medicine, Pediatrics, Perinatology and Child Health, Demyelinating neuropathy, Medicine, Neurology (clinical), medicine.symptom, business, WALDENSTROMS MACROGLOBULINEMIA, 030217 neurology & neurosurgery, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c6577ac8e785f3a6a6ac3608be6f1c79Test
https://doi.org/10.1016/j.nmd.2017.08.001Test -
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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