Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation-Reference-Cited by-同舟云学术

Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation

Published:2014-02-12 Issue:9 Volume:85 Page:1024-1028
ISSN:0022-3050
Container-title:Journal of Neurology, Neurosurgery & Psychiatry
language:en
Short-container-title:Journal of Neurology, Neurosurgery & Psychiatry

Author:

Shimazaki H.,Honda J.,Naoi T.,Namekawa M.,Nakano I.,Yazaki M.,Nakamura K.,Yoshida K.,Ikeda S.-i.,Ishiura H.,Fukuda Y.,Takahashi Y.,Goto J.,Tsuji S.,Takiyama Y.

Publisher

BMJ

Subject

Psychiatry and Mental health,Clinical Neurology,Surgery

Reference26 articles.

1. Classification of the hereditary ataxias and paraplegias;Harding;Lancet,1983

2. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia;Hazan;Nat Genet,1999

3. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum;Stevanin;Nat Genet,2007

4. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms;Salinas;Lancet Neurol,2008

5. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome;Nagle;Nat Genet,1996

Cited by 29 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. Spectrum ofLYSTmutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature;Journal of Medical Genetics;2023-10-03

2. Hereditary Spastic Paraplegia due to LYST Gene Mutation: A Novel Causative Gene;Annals of Indian Academy of Neurology;2023

3. A juvenile-onset case of autosomal recessive spastic ataxia of charlevoix–saguenay with a novel mutation in the SACS gene;Annals of Movement Disorders;2023-01

4. De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability;Human Genomics;2022-11-01

5. Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism;Life;2021-12-23