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European Journal of Medical Genetics|August 19, 2017
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulationRodolphe Dard, Claire Meyniel, Valérie Touitou, et al.Neurology|January 9, 2015
Triheptanoin improves brain energy metabolism in patients with Huntington diseaseIsaac Mawusi Adanyeguh, Daisy Rinaldi, Pierre-Gilles Henry, et al.Mutation Research|July 9, 2013
The impact of single-nucleotide polymorphisms (SNPs) in OGG1 and XPC on the age at onset of Huntington diseaseFrédérique Berger, Laurence Vaslin, Lisa Belin, et al.Movement Disorders : Official Journal of the Movement Disorder Society|October 23, 2022
Temporal Dynamics of the Scale for the Assessment and Rating of Ataxia in Spinocerebellar AtaxiasPaul Moulaire, Pierre Emmanuel Poulet, Emilien Petit, et al.Journal of Clinical Medicine|June 3, 2020
Significance of NT-proBNP and High-sensitivity Troponin in Friedreich AtaxiaLise Legrand, Carole Maupain, Marie-Lorraine Monin, et al.Neuropsychologia|December 25, 2012
Is non-recognition of choreic movements in Huntington disease always pathological?Damian Justo, Perrine Charles, Jean Daunizeau, et al.European Journal of Human Genetics : EJHG|August 22, 2008
Long-term outcome of presymptomatic testing in Huntington diseaseMarcela Gargiulo, Séverine Lejeune, Marie-Laure Tanguy, et al.Journal of Human Genetics|January 10, 2014
A shared haplotype for dentatorubropallidoluysian atrophy (DRPLA) in Italian families testifies of the recent introduction of the mutationLiana Veneziano, Elide Mantuano, Claudio Catalli, et al.Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|December 31, 2010
Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegiaMike Cleeter, Henry Houlden, Paul Simons, et al.European Journal of Human Genetics : EJHG|October 25, 2007
Mental deficiency in three families with SPG4 spastic paraplegiaPascale Ribaï, Christel Depienne, Estelle Fedirko, et al.Pageof 33