A novel mutation in SACS gene in a family from southern Italy-Reference-Cited by-同舟云学术

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A novel mutation in SACS gene in a family from southern Italy

Published:2004-01-12 Issue:1 Volume:62 Page:100-102
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Criscuolo C.,Banfi S.,Orio M.,Gasparini P.,Monticelli A.,Scarano V.,Santorelli F. M.,Perretti A.,Santoro L.,De Michele G.,Filla A.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Cited by 66 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. Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients;Acta Neurologica Belgica;2023-10-29

2. A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration;Human Genetics;2023-09-27

3. A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration;2023-07-18

4. Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration;International Journal of Molecular Sciences;2022-01-04

5. Autosomal Recessive Cerebellar Ataxias;Handbook of the Cerebellum and Cerebellar Disorders;2021-12-05

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