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Journal of Medical Genetics|April 14, 2012
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genesStéphanie Millecamps, Séverine Boillée, Isabelle Le Ber, et al.Journal of the Neurological Sciences|October 22, 2008
Frontal Assessment Battery is a marker of dorsolateral and medial frontal functions: A SPECT study in frontotemporal dementiaEric Guedj, Gilles Allali, Celine Goetz, et al.Acta Neuropathologica|May 27, 2014
The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in miceSandro Alves, Florence Cormier-Dequaire, Martina Marinello, et al.European Journal of Human Genetics : EJHG|May 2, 2013
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disordersCaroline Nava, Boris Keren, Cyril Mignot, et al.Brain : a Journal of Neurology|December 20, 2019
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanismsVincent Huin, Mathieu Barbier, Armand Bottani, et al.Journal of Neurology, Neurosurgery, and Psychiatry|December 6, 2014
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansionMasato Obayashi, Giovanni Stevanin, Matthis Synofzik, et al.JAMA Neurology|December 3, 2017
Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 YearsAnne Bertrand, Junhao Wen, Daisy Rinaldi, et al.Cell Reports|June 28, 2018
Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to NeurodegenerationMaxime Boutry, Julien Branchu, Céline Lustremant, et al.Neurology|February 17, 2017
Low cancer prevalence in polyglutamine expansion diseasesGiulia Coarelli, Alhassane Diallo, Morgane Sonia Thion, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2020
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairmentThomas Roux, Mathieu Barbier, Mélanie Papin, et al.Pageof 50