List of works - Marie Coutelier

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

scientific journal article

A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies

scientific article published on 21 April 2017

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

scientific article

Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

scientific article published on 19 January 2018

Combining callers improves the detection of copy number variants from whole-genome sequencing

scientific article published on 08 November 2021

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans

scientific article published on 15 June 2016

Differential expression of tissue-restricted antigens among mTEC is associated with distinct autoreactive T cell fates

scientific article published on 24 July 2020

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

scientific article published on 26 February 2018

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

scientific article published on 3 April 2015

Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing

scientific article published on 11 April 2015

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

scientific article published on 7 September 2016

Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep

scientific article published in July 2008

PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

scientific article published on 19 December 2013

Reply: ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

scientific article published on 21 August 2015

Reply: Updated frequency analysis of spinocerebellar ataxia in China

scientific article published on 12 February 2018

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

scientific article published on 31 May 2017

Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1.