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List of works by Sylviane Marouillat

A common functional allele of the Nogo receptor gene, reticulon 4 receptor (RTN4R), is associated with sporadic amyotrophic lateral sclerosis in a French population

scientific article published on 17 June 2015

Combined Metabolomics and Transcriptomics Approaches to Assess the IL-6 Blockade as a Therapeutic of ALS: Deleterious Alteration of Lipid Metabolism

scientific article published on 21 July 2016

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

scientific article published on 06 January 2021

Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders

scientific article published on 29 June 2019

Inhibition of Pathogenic Mutant SOD1 Aggregation in Cultured Motor Neuronal Cells by Prevention of Its SUMOylation on Lysine 75.

scientific article published on 26 November 2015

Molecular analysis of the oligodendrocyte myelin glycoprotein gene in autistic disorder.

scientific article published in February 2003

Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons.

scientific article published on 13 July 2017

Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder

scientific article

Mutation screening of the ubiquitin ligase gene RNF135 in French patients with autism

scientific article published on 11 September 2015

Omics to Explore Amyotrophic Lateral Sclerosis Evolution: the Central Role of Arginine and Proline Metabolism

scientific article published on 2 September 2016

Wildtype motoneurons, ALS-Linked SOD1 mutation and glutamate profoundly modify astrocyte metabolism and lactate shuttling.

scientific article published on 31 January 2017

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