Multiple system atrophy and repeat expansions in C9orf72--reply.
作者信息
Goldman Jill S, Kuo Sheng-Han
机构信息
Taub Institute for Research of Alzheimer's Disease and the Aging Brain, Columbia University, New York, New York.
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York.
出版信息
JAMA Neurol. 2014 Sep;71(9):1191-2. doi: 10.1001/jamaneurol.2014.1811.
Abstract
摘要
相似文献
1
Multiple system atrophy and repeat expansions in C9orf72--reply.
JAMA Neurol. 2014 Sep;71(9):1191-2. doi: 10.1001/jamaneurol.2014.1811.
2
Multiple system atrophy and repeat expansions in C9orf72.
JAMA Neurol. 2014 Sep;71(9):1190-1. doi: 10.1001/jamaneurol.2014.1808.
3
Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.
JAMA Neurol. 2014 Jun;71(6):771-4. doi: 10.1001/jamaneurol.2013.5762.
4
C9orf72 repeat expansions are restricted to the ALS-FTD spectrum.
Neurobiol Aging. 2014 Apr;35(4):936.e13-7. doi: 10.1016/j.neurobiolaging.2013.09.037. Epub 2013 Oct 2.
5
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
Brain. 2012 Mar;135(Pt 3):723-35. doi: 10.1093/brain/awr353. Epub 2012 Feb 1.
6
Disease Mechanisms of Repeat Expansions.
Cold Spring Harb Perspect Med. 2018 Apr 2;8(4):a024224. doi: 10.1101/cshperspect.a024224.
7
Amyotrophic lateral sclerosis/frontotemporal dementia with predominant manifestations of obsessive-compulsive disorder associated to GGGGCC expansion of the c9orf72 gene.
J Neurol. 2012 Dec;259(12):2723-5. doi: 10.1007/s00415-012-6640-1. Epub 2012 Aug 24.
8
C9orf72 repeat expansions in patients with ALS and FTD.
Lancet Neurol. 2012 Apr;11(4):297-8. doi: 10.1016/S1474-4422(12)70046-7. Epub 2012 Mar 9.
9
Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype.
Neurobiol Aging. 2012 Dec;33(12):2950.e5-7. doi: 10.1016/j.neurobiolaging.2012.07.005. Epub 2012 Jul 26.
10
C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository.
Neurology. 2012 Jul 31;79(5):482-3. doi: 10.1212/WNL.0b013e31826170f1. Epub 2012 Jul 18.
引用本文的文献
1
A pathologically confirmed case of combined amyotrophic lateral sclerosis with C9orf72 mutation and multiple system atrophy.
Neuropathology. 2022 Aug;42(4):302-308. doi: 10.1111/neup.12808. Epub 2022 Jun 23.
2
C9ORF72 intermediate repeat expansion in patients affected by atypical parkinsonian syndromes or Parkinson's disease complicated by psychosis or dementia in a Sardinian population.
J Neurol. 2015 Nov;262(11):2498-503. doi: 10.1007/s00415-015-7873-6. Epub 2015 Aug 15.
本文引用的文献
1
Multiple system atrophy and amyotrophic lateral sclerosis in a family with hexanucleotide repeat expansions in C9orf72.
JAMA Neurol. 2014 Jun;71(6):771-4. doi: 10.1001/jamaneurol.2013.5762.
2
C9ORF72 in dementia with Lewy bodies.
J Neurol Neurosurg Psychiatry. 2014 Dec;85(12):1435-6. doi: 10.1136/jnnp-2014-307622. Epub 2014 Mar 19.
3
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.
Neurology. 2014 Jan 28;82(4):292-9. doi: 10.1212/WNL.0000000000000061. Epub 2013 Dec 20.
4
Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2.
JAMA Neurol. 2013 Oct;70(10):1302-4. doi: 10.1001/jamaneurol.2013.443.
5
C9orf72 repeat expansions are a rare genetic cause of parkinsonism.
Brain. 2013 Feb;136(Pt 2):385-91. doi: 10.1093/brain/aws357.
6
Coexistence of PSP and MSA: a case report and review of the literature.
Acta Neuropathol. 2006 Feb;111(2):186-92. doi: 10.1007/s00401-005-0022-z. Epub 2006 Feb 3.
Zotero 插件