CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia-Reference-Cited by-同舟云学术

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia

Published:2019-12 Issue:12 Volume:62 Page:103605
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Shetty Aakash^ORCID,Gan-Or Ziv,Ashtiani Setareh,Ruskey Jennifer A.,van de Warrenburg Bart,Wassenberg Tessa,Kamsteeg Erik-Jan,Rouleau Guy A.^ORCID,Suchowersky Oksana

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference18 articles.

1. Conditional disruption of calpain in the CNS alters dendrite morphology, impairs LTP, and promotes neuronal survival following injury;Amini;J. Neurosci.,2013

2. Debunking Occam's razor: diagnosing multiple genetic diseases in families by whole exome sequencing;Balci;Clin. Genet.,2017

3. Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families;Coutinho;Arch. Neurol.,1999

4. Reviewing the genetic causes of spastic-ataxias;De Bot;Neurology,2012

5. Missense mutation in CAPN1 is associated with spinocerebellar ataxia in the parson russell terrier dog breed;Forman;PLoS One,2013

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. White matter abnormalities in 15 subjects with SPG76;Journal of Neurology;2023-08-14

2. Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review;neurogenetics;2023-07-19

3. The Calpain Proteolytic System;Encyclopedia of Cell Biology;2023

4. A case of spastic paraplegia with SPG4 and SPG3 associated mutations;Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova;2023

5. Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement;Frontiers in Neurology;2022-09-30