Most SOD1 mutations are pathogenic, and their identification can lead to early access to treatment.

IF 8.7 1区医学 Q1 CLINICAL NEUROLOGY

Journal of Neurology, Neurosurgery, and Psychiatry Pub Date : 2024-06-26 DOI:10.1136/jnnp-2024-333939

Elisa De La Cruz, Florence Esselin, Anne Polge, Kévin Mouzat, Claire Guissart

引用次数: 0

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大多数 SOD1 基因突变都是致病性的，识别出这些突变可使患者尽早获得治疗。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Neurology, Neurosurgery, and Psychiatry 医学-精神病学

CiteScore

15.70

自引率

1.80%

发文量

888

审稿时长

6 months

期刊介绍： The Journal of Neurology, Neurosurgery & Psychiatry (JNNP) aspires to publish groundbreaking and cutting-edge research worldwide. Covering the entire spectrum of neurological sciences, the journal focuses on common disorders like stroke, multiple sclerosis, Parkinson’s disease, epilepsy, peripheral neuropathy, subarachnoid haemorrhage, and neuropsychiatry, while also addressing complex challenges such as ALS. With early online publication, regular podcasts, and an extensive archive collection boasting the longest half-life in clinical neuroscience journals, JNNP aims to be a trailblazer in the field.