STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility (2018)
- Authors:
- Autor USP: ZANOTELI, EDMAR - FM
- Unidade: FM
- DOI: 10.1002/humu.23635
- Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS; HIPERTERMIA MALIGNA; PROTEÍNAS MUSCULARES; CONTRAÇÃO MUSCULAR
- Agências de fomento:
- Muscular Dystrophy Association [MDA577346]
- OPOStiftung
- Schweizerischer Nationalfonds zur Forderung der Wissenschaftlichen Forschung [31003A-169316]
- National Institute for Neurological Disorders and Stroke/NIH
- Horizon 2020 Framework Programme [779257]
- NIHR Great Ormond Street Hospital Biomedical Research Centre
- FP7 Health [2012-305121]
- NeRAB Association
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Human mutation
- ISSN: 1059-7794
- Volume/Número/Paginação/Ano: v. 39, n. 12, p. 1980-1994, 2018
- Este periódico é de acesso aberto
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: gold
-
ABNT
ZAHARIEVA, Irina T et al. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Human mutation, v. 39, n. 12, p. 1980-1994, 2018Tradução . . Disponível em: https://doi.org/10.1002/humu.23635. Acesso em: 29 jul. 2024. -
APA
Zaharieva, I. T., Sarkozy, A., Munot, P., Manzur, A., O'grady, G., Rendu, J., et al. (2018). STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Human mutation, 39( 12), 1980-1994. doi:10.1002/humu.23635 -
NLM
Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Zanoteli E. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility [Internet]. Human mutation. 2018 ; 39( 12): 1980-1994.[citado 2024 jul. 29 ] Available from: https://doi.org/10.1002/humu.23635 -
Vancouver
Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Zanoteli E. STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility [Internet]. Human mutation. 2018 ; 39( 12): 1980-1994.[citado 2024 jul. 29 ] Available from: https://doi.org/10.1002/humu.23635 - Myopathy due to HMGCR antibodies in adult mimicking muscular dystrophy associated with cancer and statin exposure - narrative review of the literature - case report
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Informações sobre o DOI: 10.1002/humu.23635 (Fonte: oaDOI API)
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