Effect of familial clustering in the genetic screening of 235 French ALS families.

doi:10.1136/jnnp-2020-325064

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Article

Effect of familial clustering in the genetic screening of 235 French ALS families.

Journal of neurology, neurosurgery, and psychiatry - 1 May 2021

Corcia Philippe, Camu William, Brulard Celine, Marouillat Sylviane, Couratier Philippe, Camdessanché Jean-Philippe, Cintas Pascal, Verschueren Annie, Soriani Marie-Helene, Desnuelle Claude, Fleury Marie-Céline, Guy Nathalie, Cassereau Julien, Viader Fausto, Pittion-Vouyovitch Sophie, Danel Veronique, Kolev Ivan, Le Masson Gwendal, Beltran Stephane, Salachas Francois, Bernard Emilien, Pradat Pierre-François, Blasco Hélène, Lanznaster Débora, Hergesheimer Rudolph, Laumonnier Frederic, Andres Christian R, Meininger Vincent, Vourc'h Patrick

Abstract excerpt

OBJECTIVES: To determine whether the familial clustering of amyotrophic lateral sclerosis (ALS) cases and the phenotype of the disease may help identify the pathogenic genes involved. METHODS: We conducted a targeted next-generation sequencing analysis on 235 French familial ALS (FALS), unrelated probands to identify mutations in 30 genes linked to the disease. The genealogy, that is, number of cases and...

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PMID: 33408239
DOI: 10.1136/jnnp-2020-325064

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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