219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016
| Autor: | Peter Hackman, Bjarne Udd, Carsten G. Bönnemann, Ana Ferreiro, Carsten Bonnemann, Alan Beggs, Mathias Gautel, Mark Davis, Teresinha Evangelista, Marco Savarese, Jelena Nikodinovic Glumac, Jocelyn Laporte, John Edward Smith, Isabelle Richard, Henk Granzier, Raphäel Schneider, Heinz Jungbluth, Sarah Foye, Alison Rockett Frase |
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| Přispěvatelé: | Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University of Tampere [Finland], National Institute of Neurological Disorders and Stroke [Bethesda] (NINDS), National Institutes of Health [Bethesda] (NIH), Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Titinopathy Database Consortium: Bjarne Udd , Peter Hackman , Ana Ferreiro , Carsten Bonnemann , Alan Beggs , Mathias Gautel , Mark Davis , Teresinha Evangelista , Marco Savarese , Jelena Nikodinovic Glumac , Jocelyn Laporte , John Edward Smith , Isabelle Richard , Henk Granzier , Raphäel Schneider , Heinz Jungbluth , Sarah Foye , Alison Rockett Frase, Richard, Isabelle, Haartman Institute [Helsinki], Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki, Neurology Department, Physiopathologie et thérapie du muscle strié, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR14-Institut National de la Santé et de la Recherche Médicale (INSERM), Boston Children's Hospital, University of East London & Glasgow Caledonian University, Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), École pratique des hautes études (EPHE)-Université d'Évry-Val-d'Essonne (UEVE)-GENETHON 3-Institut National de la Santé et de la Recherche Médicale (INSERM), Washington State University (WSU), Laboratoire Réactions et Génie des Procédés (LRGP), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Department of Paediatric Neurology, Guy's and St Thomas' Hospital [London]-Evelina Children's Hospital, Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon, Guy's and St Thomas' Hospital [London]-Evelina London Children's Hospital, Medicum, Department of Medical and Clinical Genetics, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Louis Pasteur - Strasbourg I |
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
MESH: Connectin [SDV.BIO]Life Sciences [q-bio]/Biotechnology International Cooperation Bioinformatics [SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biology 0302 clinical medicine Connectin C-TERMINAL TITIN Genetics (clinical) ComputingMilieux_MISCELLANEOUS Netherlands biology MUSCLE INVOLVEMENT Dilated cardiomyopathy Phenotype Early respiratory failure Neurology Titin COMMON-CAUSE TTN MESH: Mutation education MEDLINE [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics 03 medical and health sciences Muscular Diseases Tibial Muscular Dystrophy International database DISTAL MYOPATHY medicine HEREDITARY MYOPATHY Humans TRUNCATING MUTATIONS TIBIAL MUSCULAR-DYSTROPHY EARLY RESPIRATORY-FAILURE MESH: Humans business.industry MESH: Muscular Diseases [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biology Congresses as Topic medicine.disease DILATED CARDIOMYOPATHY [SDV.BIO] Life Sciences [q-bio]/Biotechnology MESH: International Cooperation 030104 developmental biology [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics Mutation Pediatrics Perinatology and Child Health MESH: Netherlands biology.protein Neurology (clinical) 3111 Biomedicine business 030217 neurology & neurosurgery MESH: Congresses as Topic |
| Zdroj: | Neuromuscular Disorders Neuromuscular Disorders, 2017, 27 (4), pp.396-407. ⟨10.1016/j.nmd.2017.01.009⟩ Neuromuscular Disorders, Elsevier, 2017, 27 (4), pp.396-407. ⟨10.1016/j.nmd.2017.01.009⟩ |
| ISSN: | 0960-8966 |
| Popis: | International audience; No abstract available |
| Databáze: | OpenAIRE |
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