Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots-Reference-Cited by-同舟云学术

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots

Published:2008-05 Issue:1-2 Volume:268 Page:131-135
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Beetz Christian,Schüle Rebecca,Klebe Stephan,Klimpe Sven,Klopstock Thomas,Lacour Arnaud,Otto Susanne,Sperfeld Anne-Dorte,van de Warrenburg Bart,Schöls Ludger,Deufel Thomas

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference16 articles.

1. The genetics of hereditary spastic paraplegia and implications for drug therapy;Zuchner;Expert Opin Pharmacother,2007

2. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q;Fink;Am J Hum Genet,1995

3. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6);Rainier;Am J Hum Genet,2003

4. A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia;Reed;Neurogenetics,2005

5. Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families;Chen;Human Mutat,2005

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1. Clinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6;Frontiers in Genetics;2022-04-08

2. SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review;Journal of Clinical Neuroscience;2021-12

3. Autosomal dominant spastic paraplegias;Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova;2021

4. Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients;Annals of Neurology;2016-03-11

5. Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing;Journal of Neurology;2014-12-06