Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation-Reference-Cited by-同舟云学术

Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation

Published:2011-08 Issue:2 Volume:89 Page:320-327
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Doi Hiroshi,Yoshida Kunihiro,Yasuda Takao,Fukuda Mitsunori,Fukuda Yoko,Morita Hiroshi,Ikeda Shu-ichi,Kato Rumiko,Tsurusaki Yoshinori,Miyake Noriko,Saitsu Hirotomo,Sakai Haruya,Miyatake Satoko,Shiina Masaaki,Nukina Nobuyuki,Koyano Shigeru,Tsuji Shoji,Kuroiwa Yoshiyuki,Matsumoto Naomichi

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference32 articles.

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

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

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

4. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: Implications for clinical management;Anheim;Neurogenetics,2010

5. Cerebellar ataxias;Manto;Curr. Opin. Neurol.,2009

Cited by 57 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. Neurogenetic motor disorders;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023

2. NOS1AP is a novel molecular target and critical factor in TDP-43 pathology;Brain Communications;2022-09-01

3. Potential roles of synaptotagmin family members in cancers: Recent advances and prospects;Frontiers in Medicine;2022-08-08

4. Involvement of Rare Mutations of SCN9A, DPP4, ABCA13, and SYT14 in Schizophrenia and Bipolar Disorder;International Journal of Molecular Sciences;2021-12-07

5. Autosomal recessive adult onset ataxia;Journal of Neurology;2021-09-09