Nemaline myopathy in Brazilian patients: molecular and clinical characterization (2022)
- Authors:
- Gurgel-Giannetti, Juliana

- Souza, Lucas Santos

- Yamamoto, Guilherme Lopes

- Belisario, Marina
- Lazar, Monize
- Campos, Wilson
- Pavanello, Rita de Cassia Mingroni
- Zatz, Mayana

- Reed, Umbertina Conti

- Zanoteli, Edmar

- Oliveira, Acary Souza Bulle

- Lehtokari, Vilma-Lotta
- Casella, Erasmo Barbante

- Machado-Costa, Marcela Câmara
- Wallgren-Pettersson, Carina
- Laing, Nigel G
- Nigro, Vincenzo
- Vainzof, Mariz

- Gurgel-Giannetti, Juliana
- USP affiliated authors: ZATZ, MAYANA - IB ; REED, UMBERTINA CONTI - FM ; ZANOTELI, EDMAR - FM ; CASELLA, ERASMO BARBANTE - FM ; VAINZOF, MARIZ - IB ; SOUZA, LUCAS SANTOS E - IB ; MAGALHÃES, MONIZE LAZAR - IB
- Unidades: IB; FM
- DOI: 10.3390/ijms231911995
- Subjects: GENÉTICA MÉDICA; DOENÇAS NEUROMUSCULARES; NEUROLOGIA; MIOPATIAS CONGÊNITAS ESTRUTURAIS
- Language: Inglês
- Imprenta:
- Source:
- Título: International Journal of Molecular Sciences
- ISSN: 1422-0067
- Volume/Número/Paginação/Ano: v. 23, n. 19, 11995, 2022
- Status:
- Artigo publicado em periódico de acesso aberto (Gold Open Access)
- Versão do Documento:
- Versão publicada (Published version)
- Acessar versão aberta:
-
ABNT
GURGEL-GIANNETTI, Juliana et al. Nemaline myopathy in Brazilian patients: molecular and clinical characterization. International Journal of Molecular Sciences, v. 23, n. 19, 2022Tradução . . Disponível em: https://doi.org/10.3390/ijms231911995. Acesso em: 16 abr. 2026. -
APA
Gurgel-Giannetti, J., Souza, L. S., Yamamoto, G. L., Belisario, M., Lazar, M., Campos, W., et al. (2022). Nemaline myopathy in Brazilian patients: molecular and clinical characterization. International Journal of Molecular Sciences, 23( 19). doi:10.3390/ijms231911995 -
NLM
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello R de CM, Zatz M, Reed UC, Zanoteli E, Oliveira ASB, Lehtokari V-L, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Nemaline myopathy in Brazilian patients: molecular and clinical characterization [Internet]. International Journal of Molecular Sciences. 2022 ; 23( 19):[citado 2026 abr. 16 ] Available from: https://doi.org/10.3390/ijms231911995 -
Vancouver
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello R de CM, Zatz M, Reed UC, Zanoteli E, Oliveira ASB, Lehtokari V-L, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Nemaline myopathy in Brazilian patients: molecular and clinical characterization [Internet]. International Journal of Molecular Sciences. 2022 ; 23( 19):[citado 2026 abr. 16 ] Available from: https://doi.org/10.3390/ijms231911995 - Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients
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