Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity-Reference-Cited by-同舟云学术

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

Published:2013-02 Issue:2 Volume:92 Page:245-251
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Hammer Monia B.,Eleuch-Fayache Ghada,Schottlaender Lucia V.,Nehdi Houda,Gibbs J. Raphael,Arepalli Sampath K.,Chong Sean B.,Hernandez Dena G.,Sailer Anna,Liu Guoxiang,Mistry Pramod K.,Cai Huaibin,Shrader Ginamarie,Sassi Celeste,Bouhlal Yosr,Houlden Henry,Hentati Fayçal,Amouri Rim,Singleton Andrew B.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias;Fogel;Lancet Neurol.,2007

2. Autosomal recessive ataxias: 20 types, and counting;Embiruçu;Arq. Neuropsiquiatr.,2009

3. Autosomal recessive cerebellar ataxias;Palau;Orphanet J. Rare Dis.,2006

4. Recent advances in the genetics of cerebellar ataxias;Sailer;Curr. Neurol. Neurosci. Rep.,2012

5. Reviewing the genetic causes of spastic-ataxias;de Bot;Neurology,2012

Cited by 106 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. Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature;Neurogenetics;2024-02-09

2. Structural basis for inhibition of a GH116 β-glucosidase and its missense mutants by GBA2 inhibitors: Crystallographic and quantum chemical study;Chemico-Biological Interactions;2023-10

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

4. SPG46 spastic paraplegia due to GBA2 mutation: description of the first case in Spain;Neurología (English Edition);2023-06

5. Reaction Mechanism of Glycoside Hydrolase Family 116 Utilizes Perpendicular Protonation;ACS Catalysis;2023-04-14