肌萎缩性脊髓侧索硬化症（ALS）的 SOD1 基因筛查 - 突变频率、患者对遗传信息的态度以及多中心项目中向托非森治疗的转变

IF 2.5 4区医学 Q2 CLINICAL NEUROLOGY Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Pub Date : 2024-09-13 DOI:10.1080/21678421.2024.2401131

Thomas Meyer, Peggy Schumann, Torsten Grehl, Ute Weyen, Susanne Petri, Annekathrin Rödiger, Robert Steinbach, Julian Grosskreutz, Sarah Bernsen, Patrick Weydt, Joachim Wolf, René Günther, Maximilian Vidovic, Petra Baum, Moritz Metelmann, Jochen H. Weishaupt, Berthold Streubel, David C. Kasper, Yasemin Koc, Dagmar Kettemann, Jenny Norden, Philipp Schmitt, Bertram Walter, Christoph Münch, Susanne Spittel, André Maier, Péter Körtvélyessy

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引用次数: 0

摘要

目的报告肌萎缩性脊髓侧索硬化症（ALS）筛查计划中致病性 SOD1 基因变异的频率，以及过渡到扩大访问计划的临床实践。

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SOD1 gene screening in ALS – frequency of mutations, patients’ attitudes to genetic information and transition to tofersen treatment in a multi-center program

Objective: To report the frequency of pathogenic SOD1 gene variants in a screening program in amyotrophic lateral sclerosis (ALS), and the clinical practice of transition to an expanded access prog...

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来源期刊

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration CLINICAL NEUROLOGY-

CiteScore

5.40

自引率

10.70%

发文量

期刊介绍： Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration is an exciting new initiative. It represents a timely expansion of the journal Amyotrophic Lateral Sclerosis in response to the clinical, imaging pathological and genetic overlap between ALS and frontotemporal dementia. The expanded journal provides outstanding coverage of research in a wide range of issues related to motor neuron diseases, especially ALS (Lou Gehrig’s disease) and cognitive decline associated with frontotemporal degeneration. The journal also covers related disorders of the neuroaxis when relevant to these core conditions.