Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder.

IF 2.6 4区医学 Q2 CLINICAL NEUROLOGY

Movement Disorders Clinical Practice Pub Date : 2024-10-24 DOI:10.1002/mdc3.14246

Luigi M Romito, Fabiana Colucci, Valentina Leta, Celeste Panteghini, Roberta Telese, Gianluca Tolva, Roberta Villa, Antonio E Elia, Roberto Eleopra, Angela Peron, Barbara Garavaglia, Maria Iascone

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SLC6A1 p.Asp451Gly 变异在一名肌张力障碍和神经发育障碍合并症患者中的致病作用

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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)