Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia.

IF 2.6 4区医学 Q2 CLINICAL NEUROLOGY Movement Disorders Clinical Practice Pub Date : 2024-12-01 Epub Date: 2024-10-05 DOI:10.1002/mdc3.14226

Luca Schierbaum, Vicente Quiroz, Amy Tam, Umar Zubair, Laura Tochen, Rasha Srouji, Kathryn Yang, Darius Ebrahimi-Fakhari

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COQ4的双拷贝变异导致儿童期发病的纯遗传性痉挛性截瘫。

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来源期刊

Movement Disorders Clinical Practice CLINICAL NEUROLOGY-

CiteScore

4.00

自引率

7.50%

发文量

218

期刊介绍： Movement Disorders Clinical Practice- is an online-only journal committed to publishing high quality peer reviewed articles related to clinical aspects of movement disorders which broadly include phenomenology (interesting case/case series/rarities), investigative (for e.g- genetics, imaging), translational (phenotype-genotype or other) and treatment aspects (clinical guidelines, diagnostic and treatment algorithms)

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