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List of works by Philippe Couratier

A mutation that creates a pseudoexon in SOD1 causes familial ALS.

scientific article published in November 2009

A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.

scientific article published on 5 January 2017

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scientific article

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

preprint

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

scholarly article

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

scientific article

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

scientific article published on 06 January 2021

Phenotypic and genotypic studies of ALS cases in ALS-SMA families

scientific article published on 01 March 2018

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

scientific article published on 24 June 2010

Some new proposals for the classification of inherited myopathies

scientific article published on 19 June 2018

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