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Genes|March 25, 2022
Does the Expression and Epigenetics of Genes Involved in Monogenic Forms of Parkinson's Disease Influence Sporadic Forms?Aymeric Lanore, Suzanne Lesage, Louise-Laure Mariani, et al.Neurology. Genetics|April 12, 2016
White matter lesions in FTLD: distinct phenotypes characterize GRN and C9ORF72 mutationsFatima Ameur, Olivier Colliot, Paola Caroppo, et al.Journal of Neurochemistry|March 22, 2002
Metabolic changes in the basal ganglia of patients with Huntington's disease: an in situ hybridization study of cytochrome oxidase subunit I mRNAIsabelle Gourfinkel-An, Miquel Vila, Baptiste Faucheux, et al.Human Molecular Genetics|October 22, 2009
SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7Alexandre Janer, Andreas Werner, Junko Takahashi-Fujigasaki, et al.Archives of Neurology|January 13, 2010
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutationsRabab Debs, Christel Depienne, Agnès Rastetter, et al.Frontiers in Neurology|April 12, 2021
Clinical Variability of <i>SYNJ1</i>-Associated Early-Onset ParkinsonismSuzanne Lesage, Graziella Mangone, Christelle Tesson, et al.Archives of Neurology|August 20, 2003
Subtle cognitive impairment but no dementia in patients with spastin mutationsChantal M E Tallaksen, Elodie Guichart-Gomez, Patrice Verpillat, et al.Journal of Cell Science|March 1, 2013
ER-stress-associated functional link between Parkin and DJ-1 via a transcriptional cascade involving the tumor suppressor p53 and the spliced X-box binding protein XBP-1Eric Duplan, Emilie Giaime, Julien Viotti, et al.Archives of Neurology|September 17, 2003
Coding polymorphisms in the parkin gene and susceptibility to Parkinson diseaseChristoph-Burkhard Lücking, Véronique Chesneau, Ebba Lohmann, et al.American Journal of Medical Genetics. Part A|February 28, 2003
Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathiesNicole Ravisé, Odile Dubourg, Sandrine Tardieu, et al.Pageof 50