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Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations.

作者信息

Melo U S, Freua F, Lynch D S, Ripa B D, Tenorio R B, Saute J A M, de Souza Leite F, Kitajima J, Houlden H, Zatz M, Kok F

机构信息

Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

Neurogenetics Outpatient Service, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, Brazil.

出版信息

Clin Genet. 2018 Nov;94(5):482-483. doi: 10.1111/cge.13428. Epub 2018 Sep 10.

DOI:10.1111/cge.13428
PMID:30198554
Abstract
摘要

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引用本文的文献

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Neurogenetics. 2023 Oct;24(4):243-250. doi: 10.1007/s10048-023-00726-8. Epub 2023 Jul 19.
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Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.西班牙东部一系列遗传性小脑共济失调的基因研究诊断效能
Neurol Genet. 2022 Nov 14;8(6):e200038. doi: 10.1212/NXG.0000000000200038. eCollection 2022 Dec.
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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
CAPN1 变异体在痉挛性共济失调中的作用增加及表型-基因型相关性。
Neurogenetics. 2021 Mar;22(1):71-79. doi: 10.1007/s10048-020-00633-2. Epub 2021 Jan 23.
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