钙蛋白酶1突变与痉挛和共济失调综合征相关。 - Suppr

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CAPN1 mutations are associated with a syndrome of combined spasticity and ataxia.

作者信息

Tadic Vera, Klein Christine, Hinrichs Frauke, Münchau Alexander, Lohmann Katja, Brüggemann Norbert

机构信息

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Department of Neurology, University of Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany.

出版信息

J Neurol. 2017 May;264(5):1008-1010. doi: 10.1007/s00415-017-8464-5. Epub 2017 Mar 20.

DOI:10.1007/s00415-017-8464-5

PMID:28321562

Abstract

摘要

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本文引用的文献

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans.

Cell Rep. 2016 Jun 28;16(1):79-91. doi: 10.1016/j.celrep.2016.05.044. Epub 2016 Jun 16.

Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

Cerebellum. 2017 Apr;16(2):525-551. doi: 10.1007/s12311-016-0803-z.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Am J Hum Genet. 2016 May 5;98(5):1038-1046. doi: 10.1016/j.ajhg.2016.04.002.

Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the Parson Russell Terrier dog breed.

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A clinicogenetic analysis of six Indian spinocerebellar ataxia (SCA2) pedigrees. The significance of slow saccades in diagnosis.

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Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

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