Clinical features of collagen VI-related dystrophies: a large Brazilian cohort (2020)
- Authors:
- USP affiliated authors: ZANOTELI, EDMAR - FM ; MORENO, CRISTIANE DE ARAÚJO MARTINS - FM ; REED, UMBERTINA CONTI - FM
- Unidade: FM
- DOI: 10.1016/j.clineuro.2020.105734
- Subjects: DOENÇAS MUSCULARES; COLÁGENO; DISTROFIA MUSCULAR
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Clinical neurology and neurosurgery
- ISSN: 0303-8467
- Volume/Número/Paginação/Ano: v. 192, article ID 105734, 8p, 2020
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
ZANOTELI, Edmar et al. Clinical features of collagen VI-related dystrophies: a large Brazilian cohort. Clinical neurology and neurosurgery, v. 192, 2020Tradução . . Disponível em: https://doi.org/10.1016/j.clineuro.2020.105734. Acesso em: 19 abr. 2024. -
APA
Zanoteli, E., Soares, P. S., Silva, A. M. S. da, Camelo, C. G., Fonseca, A. T. Q. S. M., Albuquerque, M. A. V., et al. (2020). Clinical features of collagen VI-related dystrophies: a large Brazilian cohort. Clinical neurology and neurosurgery, 192. doi:10.1016/j.clineuro.2020.105734 -
NLM
Zanoteli E, Soares PS, Silva AMS da, Camelo CG, Fonseca ATQSM, Albuquerque MAV, Moreno CAM, Abath Neto OL, Novo Filho GM, Kulikowski LD, Reed UC. Clinical features of collagen VI-related dystrophies: a large Brazilian cohort [Internet]. Clinical neurology and neurosurgery. 2020 ; 192[citado 2024 abr. 19 ] Available from: https://doi.org/10.1016/j.clineuro.2020.105734 -
Vancouver
Zanoteli E, Soares PS, Silva AMS da, Camelo CG, Fonseca ATQSM, Albuquerque MAV, Moreno CAM, Abath Neto OL, Novo Filho GM, Kulikowski LD, Reed UC. Clinical features of collagen VI-related dystrophies: a large Brazilian cohort [Internet]. Clinical neurology and neurosurgery. 2020 ; 192[citado 2024 abr. 19 ] Available from: https://doi.org/10.1016/j.clineuro.2020.105734 - The location of disease-causing DES variants determines the severity of phenotype and the morphology of sarcoplasmic aggregates
- Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders
- Congenital myasthenic syndrome: correlation between clinical features and molecular diagnosis
- Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
- Atypical phenotype in a case of MYH7 congenital myopathy
- A novel acta 1 mutation in a patient with nemaline myopathy
- Clinical and histological features of brazilian patients with nemaline myopathy
- RYR1-related exertional rhabdomyolysis: Expanding spectrum and diagnostic challenges
- Congenital fiber type disproportion caused by TPM3 mutation: a report of two atypical cases
- Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy
Informações sobre o DOI: 10.1016/j.clineuro.2020.105734 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas