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List of works by Marie-Lorraine Monin

A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia

scientific article published on 28 September 2015

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 fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

scientific article

Clinical and genetic characteristics of late-onset Huntington's disease

scientific article

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

scientific article published on 26 February 2018

Low cancer prevalence in polyglutamine expansion diseases

scientific article published on 15 February 2017

Mutations in KCND3 cause spinocerebellar ataxia type 22.

scientific article

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

scientific article published on 8 December 2017

Survival and severity in dominant cerebellar ataxias

scientific article

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

scientific article

Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases

scientific article published on 3 May 2016

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