Autosomal dominant pure spastic paraplegia in a brazilian family: linkage to chromosome 8q and study of muscle syntrophin 'beta'1 (1999)
- Authors:
- USP affiliated authors: BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; ZATZ, MAYANA - IB ; MARIE, SUELY KAZUE NAGAHASHI - FM
- Unidades: IB; FM
- Assunto: GENÉTICA MÉDICA
- Language: Inglês
- Imprenta:
- Publisher place: San Francisco
- Date published: 1999
- Source:
- Título: American Journal of Human Genetics
- Volume/Número/Paginação/Ano: v. 65, n. 4, suppl., res.2508, oct., 1999
- Conference titles: American Society of Human Genetics
-
ABNT
ROCCO, P S et al. Autosomal dominant pure spastic paraplegia in a brazilian family: linkage to chromosome 8q and study of muscle syntrophin 'beta'1. American Journal of Human Genetics. San Francisco: Instituto de Biociências, Universidade de São Paulo. . Acesso em: 27 dez. 2025. , 1999 -
APA
Rocco, P. S., Vainzof, M., Froehner, S. C., Marie, S. K. N., Kunkel, L. M., Passos-Bueno, M. R., & Zatz, M. (1999). Autosomal dominant pure spastic paraplegia in a brazilian family: linkage to chromosome 8q and study of muscle syntrophin 'beta'1. American Journal of Human Genetics. San Francisco: Instituto de Biociências, Universidade de São Paulo. -
NLM
Rocco PS, Vainzof M, Froehner SC, Marie SKN, Kunkel LM, Passos-Bueno MR, Zatz M. Autosomal dominant pure spastic paraplegia in a brazilian family: linkage to chromosome 8q and study of muscle syntrophin 'beta'1. American Journal of Human Genetics. 1999 ; 65( 4):[citado 2025 dez. 27 ] -
Vancouver
Rocco PS, Vainzof M, Froehner SC, Marie SKN, Kunkel LM, Passos-Bueno MR, Zatz M. Autosomal dominant pure spastic paraplegia in a brazilian family: linkage to chromosome 8q and study of muscle syntrophin 'beta'1. American Journal of Human Genetics. 1999 ; 65( 4):[citado 2025 dez. 27 ] - Estudo molecular de neuropatias periféricas - CMT1A e HNPP
- The limb-girdle muscular dystrophy 2G (LGMD2G) phenotype
- Estudo molecular da neuropatia de Charcot-Marie-Tooth tipo 1 (CMT1) e neuropatia hereditária com paralisias por compressão (HNPP)
- A first missense mutation in the 'delta' sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies
- The FSHD1 gene affects more often and more severely males than females in brazilian families: implications for preclinical and prenatal diagnosis
- Estudo populacional das ataxias espinocerebelares na população brasileira
- Sarcoglicanopatias na população brasileira
- Different gender expression and penetrance of the facioscapulohumeral muscular dystrophy gene (FSDHI)
- Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population
- Further evidence for the organization of the four sarcoglycan proteins within the dystrophin-glycoprotein complex
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