Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy (2023)
- Authors:
- Autor USP: ZANOTELI, EDMAR - FM
- Unidade: FM
- DOI: 10.1212/NXG.0000000000200093
- Subjects: GENES; PROTEÍNAS; DOENÇAS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Publisher place: Philadelphia
- Date published: 2023
- Source:
- Título: Neurology- Genetics
- ISSN: 2376-7839
- Volume/Número/Paginação/Ano: v. 9, n. 5, article ID e200093, 12p, 2023
- Status:
- Artigo publicado em periódico de acesso aberto (Gold Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
SCHIAVA, Marianela et al. Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy. Neurology- Genetics, v. 9, n. 5, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/81997. Acesso em: 14 abr. 2026. -
APA
Schiava, M., Ikenaga, C., Topf, A., Caballero-avila, M., Chou, T. -F., Li, S., et al. (2023). Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy. Neurology- Genetics, 9( 5). doi:10.1212/NXG.0000000000200093 -
NLM
Schiava M, Ikenaga C, Topf A, Caballero-avila M, Chou T-F, Li S, Wang F, Daw J, Stojkovic T, Zanoteli E. Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy [Internet]. Neurology- Genetics. 2023 ; 9( 5):[citado 2026 abr. 14 ] Available from: https://observatorio.fm.usp.br/handle/OPI/81997 -
Vancouver
Schiava M, Ikenaga C, Topf A, Caballero-avila M, Chou T-F, Li S, Wang F, Daw J, Stojkovic T, Zanoteli E. Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy [Internet]. Neurology- Genetics. 2023 ; 9( 5):[citado 2026 abr. 14 ] Available from: https://observatorio.fm.usp.br/handle/OPI/81997 - 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
- Therapeutic advances in 5q-linked spinal muscular atrophy
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
