一个涉及 TTPA 和 SETX 基因的近亲家族的遗传异质性

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Journal of neurogenetics Pub Date : 2023-12-18 DOI:10.1080/01677063.2023.2281916

Cyrine Jeridi, Amine Rachdi, Fatma Nabli, Zacharia Saied, Rania Zouari, Dina Ben Mohamed, Mariem Ben Said, Saber Masmoudi, Samia Ben Sassi, Rim Amouri

引用次数: 0

摘要

常染色体隐性遗传小脑共济失调症（ARCA）是一组高度异质性的进行性神经退行性疾病，通常在成年前发病。尽管在临床上有一些相似之处...

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Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes

Autosomal recessive cerebellar ataxias (ARCA) constitute a highly heterogeneous group of progressive neurodegenerative disorders that typically occur prior to adulthood. Despite some clinical resem...

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来源期刊

Journal of neurogenetics 医学-神经科学

CiteScore

4.40

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： The Journal is appropriate for papers on behavioral, biochemical, or cellular aspects of neural function, plasticity, aging or disease. In addition to analyses in the traditional genetic-model organisms, C. elegans, Drosophila, mouse and the zebrafish, the Journal encourages submission of neurogenetic investigations performed in organisms not easily amenable to experimental genetics. Such investigations might, for instance, describe behavioral differences deriving from genetic variation within a species, or report human disease studies that provide exceptional insights into biological mechanisms