A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p.
作者信息
Kramer P L, Yue Q, Gancher S T, Nutt J G, Baloh R, Smith E, Browne D, Bussey K, Lovrien E, Nelson S
出版信息
Am J Hum Genet. 1995 Jul;57(1):182-5.
Abstract
摘要
相似文献
1
A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p.发作性共济失调的眼球震颤相关型的一个基因座定位于19号染色体短臂上一个11厘摩的区域。
Am J Hum Genet. 1995 Jul;57(1):182-5.
2
Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.家族性发作性共济失调：与19号染色体短臂连锁的四个家族中的临床异质性
Ann Neurol. 1997 Jan;41(1):8-16. doi: 10.1002/ana.410410105.
3
A new episodic ataxia syndrome with linkage to chromosome 19q13.
Arch Neurol. 2007 May;64(5):749-52. doi: 10.1001/archneur.64.5.749.
4
Genetic heterogeneity of familial hemiplegic migraine.家族性偏瘫性偏头痛的遗传异质性
Am J Hum Genet. 1994 Dec;55(6):1166-72.
5
Familial periodic nystagmus, vertigo, and ataxia.家族性周期性眼球震颤、眩晕和共济失调。
Arch Neurol. 1969 Mar;20(3):276-80. doi: 10.1001/archneur.1969.00480090064010.
6
A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p.一种遗传性阵发性小脑共济失调基因定位于19号染色体短臂。
Ann Neurol. 1995 Mar;37(3):289-93. doi: 10.1002/ana.410370304.
7
Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13.意大利一个家族中对乙酰唑胺有反应的发作性共济失调进一步明确了19号染色体p13区域的基因定位。
Brain. 1997 May;120 ( Pt 5):805-12. doi: 10.1093/brain/120.5.805.
8
Autosomal dominant episodic ataxia: a heterogeneous syndrome.
Mov Disord. 1986;1(4):239-53. doi: 10.1002/mds.870010404.
9
A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.对一个患有发作性共济失调的大家系进行全基因组筛选和连锁图谱分析。
Neurology. 2005 Jul 12;65(1):156-8. doi: 10.1212/01.wnl.0000167186.05465.7c.
10
Novel missense variant of CACNA1A gene: A case report of a family with episodic ataxia type 2.CACNA1A基因的新型错义变异：一个发作性共济失调2型家系的病例报告
J Neurol Sci. 2017 May 15;376:119-120. doi: 10.1016/j.jns.2017.03.008. Epub 2017 Mar 11.
引用本文的文献
1
Altered brain state during episodic dystonia in tottering mice decouples primary motor cortex from limb kinematics.蹒跚小鼠发作性肌张力障碍期间的脑状态改变使初级运动皮层与肢体运动学解耦。
Dystonia. 2023;2. doi: 10.3389/dyst.2023.10974. Epub 2023 Feb 2.
2
Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications.与癫痫相关的突变及其分子亚区域影响
Front Mol Neurosci. 2022 May 4;15:860662. doi: 10.3389/fnmol.2022.860662. eCollection 2022.
3
Cadasil - genetic and ultrastructural diagnosis. Case report.伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病——遗传与超微结构诊断。病例报告。
Dement Neuropsychol. 2015 Oct-Dec;9(4):428-432. doi: 10.1590/1980-57642015DN94000428.
4
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2.下一代测序鉴定出2型发作性共济失调中的新型CACNA1A基因突变。
Mol Genet Genomic Med. 2016 Jan 20;4(2):211-22. doi: 10.1002/mgg3.196. eCollection 2016 Mar.
5
Abnormal excitability and episodic low-frequency oscillations in the cerebral cortex of the tottering mouse.蹒跚小鼠大脑皮层的异常兴奋性和阵发性低频振荡。
J Neurosci. 2015 Apr 8;35(14):5664-79. doi: 10.1523/JNEUROSCI.3107-14.2015.
6
Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.中枢神经系统遗传性疾病中的神经元 P/Q 型钙通道功能障碍。
Nat Rev Neurol. 2012 Jan 17;8(2):86-96. doi: 10.1038/nrneurol.2011.228.
7
In vivo analysis of voltage-dependent calcium channels.电压依赖性钙通道的体内分析
J Bioenerg Biomembr. 2003 Dec;35(6):671-85. doi: 10.1023/b:jobb.0000008031.12485.ee.
8
Ion channel diseases of the central nervous system.中枢神经系统离子通道疾病
CNS Drug Rev. 2001 Summer;7(2):214-40. doi: 10.1111/j.1527-3458.2001.tb00196.x.
9
Genetic analysis of voltage-dependent calcium channels.电压依赖性钙通道的遗传分析
J Bioenerg Biomembr. 1998 Aug;30(4):387-98. doi: 10.1023/a:1021993723565.
10
Toward understanding the molecular pathology of Huntington's disease.迈向对亨廷顿舞蹈症分子病理学的理解。
Brain Pathol. 1997 Jul;7(3):979-1002. doi: 10.1111/j.1750-3639.1997.tb00897.x.
本文引用的文献
1
Shadow bands seen when typing polymorphic dinucleotide repeats: some causes and cures.在对多态性二核苷酸重复序列进行分型时出现的阴影带：一些原因及解决方法。
Biotechniques. 1993 Aug;15(2):280-4.
2
A gene for familial hemiplegic migraine maps to chromosome 19.家族性偏瘫性偏头痛基因定位于19号染色体。
Nat Genet. 1993 Sep;5(1):40-5. doi: 10.1038/ng0993-40.
3
Avoiding recomputation in linkage analysis.避免连锁分析中的重复计算。
Hum Hered. 1994 Jul-Aug;44(4):225-37. doi: 10.1159/000154222.
4
Integrated human genome-wide maps constructed using the CEPH reference panel.使用CEPH参考面板构建的整合人类全基因组图谱。
Nat Genet. 1994 Apr;6(4):391-3. doi: 10.1038/ng0494-391.
5
A gene for episodic ataxia/myokymia maps to chromosome 12p13.发作性共济失调/肌束震颤基因定位于12号染色体短臂13区。
Am J Hum Genet. 1994 Oct;55(4):702-9.
6
Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p.
Hum Mol Genet. 1995 Feb;4(2):279-84. doi: 10.1093/hmg/4.2.279.
7
A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p.一种遗传性阵发性小脑共济失调基因定位于19号染色体短臂。
Ann Neurol. 1995 Mar;37(3):289-93. doi: 10.1002/ana.410370304.
8
The 1993-94 Généthon human genetic linkage map.1993 - 1994年热那亚人类遗传连锁图谱。
Nat Genet. 1994 Jun;7(2 Spec No):246-339. doi: 10.1038/ng0694supp-246.
9
Ion channel shake-down.离子通道适应性变化
Nat Genet. 1994 Oct;8(2):111-2. doi: 10.1038/ng1094-111.
10
Transporters, channels and human disease.转运蛋白、通道与人类疾病。
Curr Opin Cell Biol. 1993 Aug;5(4):677-83. doi: 10.1016/0955-0674(93)90139-h.
Zotero 插件