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

The finding of <i>SOD1</i> variants in patients with a negative family history underscores the need for a broad genetic screening in ALS. In <i>SOD1</i>-ALS, the treatment option with tofersen was mostly utilized. The wide range in the transition time to tofersen calls for a <i>SOD1</i>-ALS management program.

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Publication Details

Journal
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Published
2024-09-13
DOI
https://doi.org/10.1080/21678421.2024.2401131
Citations
6
Primary Topic
Amyotrophic Lateral Sclerosis Research
Type
article
Field-Weighted Citation Impact
2.21

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article

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

René Günther, Maximilian Vidovic, Patrick Weydt, Petra Baum et al.
6 citations
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Amyotrophic Lateral Sclerosis Research
2.21
article

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

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

Abstract

The finding of <i>SOD1</i> variants in patients with a negative family history underscores the need for a broad genetic screening in ALS. In <i>SOD1</i>-ALS, the treatment option with tofersen was mostly utilized. The wide range in the transition time to tofersen calls for a <i>SOD1</i>-ALS management program.

Amyotrophic Lateral Sclerosis and Frontotemporal DegenerationVol. 26(1-2)
University of Bonn (DE), University of Mannheim (DE), Heidelberg University (DE), German Center for Neurodegenerative Diseases (DE), University Hospital Heidelberg (DE), Medizinische Hochschule Hannover (DE), Humboldt-Universität zu Berlin (DE), University Hospital Leipzig (DE), Jena University Hospital (DE), BG University Hospital Bergmannsheil Bochum (DE), DIAKO (DE), Alfried Krupp Hospital (DE), University Hospital Carl Gustav Carus (DE), Freie Universität Berlin (DE), Medical University of Vienna (AT), Technische Universität Dresden (DE), Charité - Universitätsmedizin Berlin (DE), University of Lübeck (DE)
Biogen
Openalex Percentile: Top 11%
Amyotrophic Lateral Sclerosis Research
2.21
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