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
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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。
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来源期刊
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.
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