A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms (2018)
- Authors:
- USP affiliated authors: ZANOTELI, EDMAR - FM ; REED, UMBERTINA CONTI - FM
- Unidade: FM
- DOI: 10.1093/brain/awy283
- Subjects: DOENÇAS MUSCULARES; POTÁSSIO; PARESIA; PROTEÍNAS DE TRANSPORTE; MUTAÇÃO GENÉTICA
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Este periódico é de assinatura
- Este artigo é de acesso aberto
- URL de acesso aberto
- Cor do Acesso Aberto: hybrid
- Licença: cc-by
-
ABNT
CASTANEDA, Marisol Sampedro et al. A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms. Brain, v. 141, p. 3308-3318, 2018Tradução . . Disponível em: https://doi.org/10.1093/brain/awy283. Acesso em: 28 mar. 2024. -
APA
Castaneda, M. S., Zanoteli, E., Scalco, R. S., Scaramuzzi, V., Caldas, V. M., Reed, U. C., et al. (2018). A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms. Brain, 141, 3308-3318. doi:10.1093/brain/awy283 -
NLM
Castaneda MS, Zanoteli E, Scalco RS, Scaramuzzi V, Caldas VM, Reed UC, Silva AMS da, O'callaghan B, Phadke R, Bugiardini E. A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms [Internet]. Brain. 2018 ; 141 3308-3318.[citado 2024 mar. 28 ] Available from: https://doi.org/10.1093/brain/awy283 -
Vancouver
Castaneda MS, Zanoteli E, Scalco RS, Scaramuzzi V, Caldas VM, Reed UC, Silva AMS da, O'callaghan B, Phadke R, Bugiardini E. A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms [Internet]. Brain. 2018 ; 141 3308-3318.[citado 2024 mar. 28 ] Available from: https://doi.org/10.1093/brain/awy283 - 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
- Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0 [Carta]
- Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient
- Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
- Atypical phenotype in a case of MYH7 congenital myopathy
- Distrofias musculares e miopatias congênitas
Informações sobre o DOI: 10.1093/brain/awy283 (Fonte: oaDOI API)
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas