214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015 (2019)
- Authors:
- Autor USP: ZANOTELI, EDMAR - FM
- Unidade: FM
- DOI: 10.1016/j.nmd.2019.07.002
- Subjects: DOENÇAS MUSCULARES; COOPERAÇÃO INTERNACIONAL; CONGRESSO INTERNACIONAL; GENÓTIPOS; FENÓTIPOS; TÉCNICAS GENÉTICAS; ESTUDOS DE COORTES
- Agências de fomento:
- Myotubular Trust
- Cure CMD
- Foundation Building Strength
- RYR-1 Foundation
- Finnish Neuromuscular Association (Finland)
- Spierziekten Nederland (The Netherlands)Netherlands Government
- Telethon Foundation (Italy)Fondazione Telethon
- Schweizerische Stiftung fur die Erforschung der Muskelkrankheiten (Switzerland)
- Prinses Beatrix Spierfonds (The Netherlands)Netherlands Government
- Muskelsvindfonden (Denmark)
- Muscular Dystrophy Campaign (UK)Muscular Dystrophy Association
- Deutsche Gesellschaft fur Muskelkranke (Germany)
- Association Francaise contre les Myopathies (France)Association Francaise contre les Myopathies
- European Neuromuscular Centre (ENMC)
- Language: Inglês
- Imprenta:
- Source:
- Título: Neuromuscular disorders
- ISSN: 0960-8966
- Volume/Número/Paginação/Ano: v. 29, n. 8, p. 644-650, 2019
- Status:
- Artigo possui versão em acesso aberto em repositório (Green Open Access)
- Versão do Documento:
- Versão submetida (Pré-print)
- Acessar versão aberta:
-
ABNT
DONKERVOORT, Sandra et al. 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015. Neuromuscular disorders, v. 29, n. 8, p. 644-650, 2019Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2019.07.002. Acesso em: 10 maio 2026. -
APA
Donkervoort, S., Dowling, J. J., Laporte, J., Macarthur, D., Bonnemann, C. G., Beggs, A., et al. (2019). 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015. Neuromuscular disorders, 29( 8), 644-650. doi:10.1016/j.nmd.2019.07.002 -
NLM
Donkervoort S, Dowling JJ, Laporte J, Macarthur D, Bonnemann CG, Beggs A, Bonne G, Bonnemann C, Donkervoort S, Zanoteli E. 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015 [Internet]. Neuromuscular disorders. 2019 ; 29( 8): 644-650.[citado 2026 maio 10 ] Available from: https://doi.org/10.1016/j.nmd.2019.07.002 -
Vancouver
Donkervoort S, Dowling JJ, Laporte J, Macarthur D, Bonnemann CG, Beggs A, Bonne G, Bonnemann C, Donkervoort S, Zanoteli E. 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015 [Internet]. Neuromuscular disorders. 2019 ; 29( 8): 644-650.[citado 2026 maio 10 ] Available from: https://doi.org/10.1016/j.nmd.2019.07.002 - Miopatias
- Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype
- Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations
- Skin Lesions and Multifocal Myositis in a Patient With Rheumatoid Arthritis
- Centronuclear myopathy: advances in genetic understanding and potential for future treatments
- Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy
- rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy
- The molecular effects of electrical stimulation on the muscle components of the urethra of female rats after trauma by vaginal distention
- Histological changes underlying bupivacaine's effect on extra ocular muscle
- Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy
Informações sobre a disponibilidade de versões do artigo em acesso aberto coletadas automaticamente via oaDOI API (Unpaywall).
Por se tratar de integração com serviço externo, podem existir diferentes versões do trabalho (como preprints ou postprints), que podem diferir da versão publicada.
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
