Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations (2018)
- Authors:
- USP affiliated authors: ZATZ, MAYANA - IB ; KOK, FERNANDO - FM
- Unidades: IB; FM
- DOI: 10.1111/cge.13428
- Subjects: DOENÇAS GENÉTICAS; DOENÇAS NEURODEGENERATIVAS; MUTAÇÃO GENÉTICA; EXONS
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Título: Clinical Genetics
- Volume/Número/Paginação/Ano: v. 94, p. 482-483, 2018
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
MELO, U. S et al. Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations. Clinical Genetics. Hoboken: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1111/cge.13428. Acesso em: 11 fev. 2026. , 2018 -
APA
Melo, U. S., Freua, F., Lynch, D. S., Ripa, B. D., Tenorio, R. B., Saute, J. A. M., et al. (2018). Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations. Clinical Genetics. Hoboken: Instituto de Biociências, Universidade de São Paulo. doi:10.1111/cge.13428 -
NLM
Melo US, Freua F, Lynch DS, Ripa BD, Tenorio RB, Saute JAM, Leite F de S, Kitajima J, Houlden H, Zatz M, Kok F. Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations [Internet]. Clinical Genetics. 2018 ; 94 482-483.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1111/cge.13428 -
Vancouver
Melo US, Freua F, Lynch DS, Ripa BD, Tenorio RB, Saute JAM, Leite F de S, Kitajima J, Houlden H, Zatz M, Kok F. Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations [Internet]. Clinical Genetics. 2018 ; 94 482-483.[citado 2026 fev. 11 ] Available from: https://doi.org/10.1111/cge.13428 - Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome
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- Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP
- Santos syndrome is caused by mutation in the WNT7A gene
- A novel complex neurological phenotype due to a homozygous mutation in FDX2
- Typical clinical and neuroimaging features in Sjögren-Larsson syndrome [Editorial]
Informações sobre o DOI: 10.1111/cge.13428 (Fonte: oaDOI API)
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