Marie‐Lorraine Monin

Mutations in <i>KCND3</i> cause spinocerebellar ataxia type 22

Yi‐Chung Lee, Alexandra Dürr, Karen Majczenko et al. · Annals of Neurology · 2012 · 151 citations · Full text

Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study

Kathrin Reetz, Imis Dogan, R.-D Hilgers et al. · The Lancet Neurology · 2016 · 150 citations

Neurodegenerative Diseases, Neurobiology Of Disease, Progression Characteristics +11

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

Marie Coutelier, Iulia Blesneac, Arnaud Monteil et al. · The American Journal of Human Genetics · 2015 · 124 citations · Full text

Recurrent Mutation, Molecular Neuroscience, Neurophysiology +10

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

Marie Coutelier, Monia Hammer, Giovanni Stévanin et al. · JAMA Neurology · 2018 · 120 citations · Full text

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

Marie Coutelier, Giulia Coarelli, Marie‐Lorraine Monin et al. · Brain · 2017 · 111 citations · Full text

Neurogenomics, Neurological Disorder, Genetics +23