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List of works by Marie Coutelier

1-17 of 17 results

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

scientific article published on 19 December 2013
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

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

scientific article published on 3 April 2015
Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep

scientific article published in July 2008
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

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

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

scientific article published on 21 April 2017
Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing

scientific article published on April 11, 2015
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

scientific article published on 26 February 2018
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
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

scientific article published on 31 May 2017
Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function

scientific article published on 19 January 2018
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
Differential expression of tissue-restricted antigens among mTEC is associated with distinct autoreactive T cell fates

scientific article published on 24 July 2020
Reply: Updated frequency analysis of spinocerebellar ataxia in China

scientific article published on 12 February 2018
Combining callers improves the detection of copy number variants from whole-genome sequencing

scientific article published on 08 November 2021

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