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Parkinsonism, Olivary Hypertrophy and Cerebellar Atrophy with Gene Mutation.

作者信息

Mahale Rohan R, Arunachal Gautham, Gautam Jyothi, Dutta Debayan, Kovoor Jennifer, Mailankody Pooja, Padmanabha Hansashree, Mathuranath P S

机构信息

Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.

出版信息

Ann Indian Acad Neurol. 2021 Nov-Dec;24(6):991-993. doi: 10.4103/aian.AIAN_625_20. Epub 2021 Apr 16.

DOI:10.4103/aian.AIAN_625_20
PMID:35359541
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8965927/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/75e0/8965927/49cd07d24d00/AIAN-24-991-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/75e0/8965927/49cd07d24d00/AIAN-24-991-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/75e0/8965927/49cd07d24d00/AIAN-24-991-g001.jpg

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本文引用的文献

1
A Novel Mutation in a Patient With Neurological, Psychological, and Gastrointestinal Impairment.一名患有神经、心理和胃肠道功能障碍患者的新型突变
Front Neurol. 2019 Sep 4;10:944. doi: 10.3389/fneur.2019.00944. eCollection 2019.
2
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.TTC19基因的突变:扩展分子、临床和生化表型
Orphanet J Rare Dis. 2015 Apr 2;10:40. doi: 10.1186/s13023-015-0254-5.
3
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
一名日本患者患有小脑共济失调、痉挛性截瘫和深度感觉障碍,与一种新的纯合TTC19突变相关。
J Hum Genet. 2015 Apr;60(4):187-91. doi: 10.1038/jhg.2015.7. Epub 2015 Feb 5.
4
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.外显子组测序揭示了一名常染色体隐性遗传性小脑共济失调患者中的一个新型 TTC19 突变。
BMC Neurol. 2014 Jan 7;14:5. doi: 10.1186/1471-2377-14-5.
5
Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome.复合物III装配因子四肽重复序列19基因(TTC19)突变是 Leigh 综合征的罕见病因。
JIMD Rep. 2014;14:43-5. doi: 10.1007/8904_2013_282. Epub 2013 Dec 25.
6
The clinical maze of mitochondrial neurology.线粒体神经医学的临床迷宫。
Nat Rev Neurol. 2013 Aug;9(8):429-44. doi: 10.1038/nrneurol.2013.126. Epub 2013 Jul 9.
7
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.一个具有严重精神表现和 III 复合物缺陷的家族中新型 TTC19 突变。
Neurogenetics. 2013 May;14(2):153-60. doi: 10.1007/s10048-013-0361-1. Epub 2013 Mar 28.
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Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.TTC19 基因突变导致人类和果蝇中线粒体复合物 III 缺陷和神经损伤。
Nat Genet. 2011 Mar;43(3):259-63. doi: 10.1038/ng.761. Epub 2011 Jan 30.