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Neurology|October 19, 2012
FXTAS: new insights and the need for revised diagnostic criteriaEmmanuelle Apartis, Anne Blancher, Wassilios G Meissner, et al.Frontiers in Neurology|September 7, 2021
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic ParaplegiaAshraf Yahia, Liena E O Elsayed, Remi Valter, et al.Parkinsonism & Related Disorders|May 10, 2005
The effect of tau genotype on clinical features in FTDP-17Yasuhiko Baba, Yoshio Tsuboi, Matthew C Baker, et al.American Journal of Human Genetics|July 29, 2014
ELOVL5 mutations cause spinocerebellar ataxia 38Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, et al.Nature Genetics|February 11, 2004
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, et al.Annals of Neurology|April 12, 2022
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25Mathieu Barbier, Melanie Bahlo, Alessandra Pennisi, et al.JAMA Neurology|February 27, 2018
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia GenesMarie Coutelier, Monia B Hammer, Giovanni Stevanin, et al.Journal of Alzheimer'S Disease : JAD|December 21, 2012
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testingIsabelle Le Ber, Agnès Camuzat, Lena Guillot-Noel, et al.Brain : a Journal of Neurology|December 15, 2007
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degenerationGiovanni Stevanin, Hamid Azzedine, Paola Denora, et al.The Lancet. Neurology|September 18, 2015
Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort studyHeike Jacobi, Sophie Tezenas du Montcel, Peter Bauer, et al.Pageof 50