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Neurology. Genetics|January 18, 2024
<i>IRF2BPL</i> Causes Mild Intellectual Disability Followed by Late-Onset AtaxiaSolveig Heide, Claire-Sophie Davoine, Paulina Cunha, et al.Neurogenetics|November 2, 2004
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3AAnnette Abel, Nuria Fonknechten, Anne Hofer, et al.Disease Models & Mechanisms|December 19, 2018
SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 modelsMartina Marinello, Andreas Werner, Mariagiovanna Giannone, et al.Annals of Clinical and Translational Neurology|March 10, 2015
Survival and severity in dominant cerebellar ataxiasMarie-Lorraine Monin, Sophie Tezenas du Montcel, Cecilia Marelli, et al.Neurobiology of Aging|June 14, 2013
TREM2 mutations are rare in a French cohort of patients with frontotemporal dementiaSerena Lattante, Isabelle Le Ber, Agnès Camuzat, et al.European Journal of Human Genetics : EJHG|August 24, 2017
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegiasSara Morais, Laure Raymond, Mathilde Mairey, et al.Neurobiology of Aging|November 6, 2009
No replication of genetic association between candidate polymorphisms and Alzheimer's diseaseEmmanuelle Cousin, Sandrine Macé, Corinne Rocher, et al.Archives of Neurology|March 12, 2008
Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneityAmir Boukhris, Giovanni Stevanin, Imed Feki, et al.Journal of the Peripheral Nervous System : JPNS|April 3, 2012
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4CMarion Yger, Tanya Stojkovic, Sandrine Tardieu, et al.Archives of Neurology|August 20, 2003
Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxiaIsabelle Le Ber, Agnès Camuzat, Giovanni Castelnovo, et al.Pageof 50