Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation.
作者信息
Haeri Ghazal, Hajiakhoundi Fahimeh, Alavi Afagh, Ghiasi Maryam, Munhoz Renato P, Rohani Mohammad
机构信息
Department of Neurology Hazrat Rasool Hospital, Iran University of Medical Sciences Tehran Iran.
Department of Neurology Firoozgar Hospital, Iran University of Medical Sciences Tehran Iran.
出版信息
Mov Disord Clin Pract. 2021 Jan 11;8(2):275-278. doi: 10.1002/mdc3.13123. eCollection 2021 Feb.
Abstract
摘要
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本文引用的文献
1
Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34.SCA34中伴有认知障碍和蛋白质错误定位的表型特征
Neurol Genet. 2020 Feb 20;6(2):e403. doi: 10.1212/NXG.0000000000000403. eCollection 2020 Apr.
2
A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an mutation.一个因基因突变导致脊髓小脑共济失调和视网膜色素变性的家族。
Neurol Genet. 2019 Sep 23;5(5):e357. doi: 10.1212/NXG.0000000000000357. eCollection 2019 Oct.
3
Prevalence and clinicoradiological features of spinocerebellar ataxia type 34 in a Japanese ataxia cohort.日本共济失调队列中脊髓小脑性共济失调 34 型的患病率和临床放射学特征。
Parkinsonism Relat Disord. 2019 Aug;65:238-242. doi: 10.1016/j.parkreldis.2019.05.019. Epub 2019 May 13.
4
Novel mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34).与红皮角化病和脊髓小脑共济失调（SCA 34）相关的新型突变。
Neurol Genet. 2018 Jul 26;4(4):e263. doi: 10.1212/NXG.0000000000000263. eCollection 2018 Aug.
5
A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.一例伴红皮病的脊髓小脑共济失调患者中的新型ELOVL4突变
JAMA Neurol. 2015 Aug;72(8):942-3. doi: 10.1001/jamaneurol.2015.0888.
6
A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.ELOVL4 基因新突变导致的具有“热十字面包征”而无红皮角化病的脊髓小脑共济失调（SCA）：SCA34 的谱拓宽。
JAMA Neurol. 2015 Jul;72(7):797-805. doi: 10.1001/jamaneurol.2015.0610.
7
Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.扩展与 ELOVL4 突变相关的临床表型：常染色体显性遗传性小脑共济失调和红细胞角化病的大型法裔加拿大家族研究。
JAMA Neurol. 2014 Apr;71(4):470-5. doi: 10.1001/jamaneurol.2013.6337.
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