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Archives of Neurology|September 13, 2006
Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1Anne-Louise Leutenegger, Mustafa A M Salih, Pablo Ibáñez, et al.
Archives of Neurology|December 15, 2004
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegiaAlexandra Dürr, Agnès Camuzat, Emilie Colin, et al.
Archives of Neurology|August 18, 2004
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14Giovanni Stevanin, Valérie Hahn, Ebba Lohmann, et al.
Archives of Neurology|April 23, 2003
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 geneNazha Birouk, Hamid Azzedine, Odile Dubourg, et al.
Annals of Neurology|November 26, 2002
Is the saitohin gene involved in neurodegenerative diseases?Patrice Verpillat, Sylvain Ricard, Didier Hannequin, et al.
NPJ Parkinson'S Disease|October 18, 2022
Druggable transcriptomic pathways revealed in Parkinson's patient-derived midbrain neuronsMark van den Hurk, Shong Lau, Maria C Marchetto, et al.
Neurobiology of Disease|May 16, 2008
Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson diseaseAnne Rovelet-Lecrux, Vincent Deramecourt, Solenn Legallic, et al.
NPJ Parkinson'S Disease|January 4, 2024
Proxy-analysis of the genetics of cognitive decline in Parkinson's disease through polygenic scoresJohann Faouzi, Manuela Tan, Fanny Casse, et al.
JAMA Neurology|December 30, 2014
Posterior cortical atrophy as an extreme phenotype of GRN mutationsPaola Caroppo, Catherine Belin, David Grabli, et al.
Human Molecular Genetics|February 18, 2003
Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell deathFrédéric Darios, Olga Corti, Christoph B Lücking, et al.
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