Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities

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Authors

François Muratet · Centre National de la Recherche Scientifique

Elisa Teyssou · Centre National de la Recherche Scientifique

Aude Chiot · Centre National de la Recherche Scientifique

Séverine Boillée · Centre National de la Recherche Scientifique

Christian S. Lobsiger · Centre National de la Recherche Scientifique

Delphine Bohl · Centre National de la Recherche Scientifique

Abstract

Our results highlighted nearsplice/intronic mutations in SOD1 are responsible for a significant portion of French fALS and suggested the systematic analysis of the SOD1 mRNA sequence could become the method of choice for SOD1 screening, not to miss these specific cases.

Topics & Keywords

Amyotrophic Lateral Sclerosis Research Neurogenetic and Muscular Disorders Research

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Journal of Neurology Neurosurgery & Psychiatry

Volume 92, Issue 9, pp. 942-949

DOI: 10.1136/jnnp-2020-325921

Field-Weighted Citation Impact: 1.31

Command Palette

Impact of a frequent nearsplice <i>SOD1</i> variant in amyotrophic lateral sclerosis: optimising <i>SOD1</i> genetic screening for gene therapy opportunities

Authors

Abstract

Topics & Keywords

UN Sustainable Development Goals

Publication Details