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Archives of Neurology|June 16, 2005
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophyValérie Biancalana, Mathias Toft, Isabelle Le Ber, et al.
Brain : a Journal of Neurology|June 14, 2003
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genesGiovanni Stevanin, Hiroto Fujigasaki, Anne-Sophie Lebre, et al.
Neurogenetics|June 29, 2007
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSPChristel Depienne, Estelle Fedirko, Jean-Marc Faucheux, et al.
Arquivos De Neuro-Psiquiatria|July 15, 2011
Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotypeGuilherme Riccioppo Rodrigues, Ruth H Walker, Benedikt Bader, et al.
Annals of Neurology|March 24, 2005
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)Naima Bouslam, Ali Benomar, Hamid Azzedine, et al.
Annals of Neurology|March 26, 2013
G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndromeSuzanne Lesage, Mathieu Anheim, Franck Letournel, et al.
Neurobiology of Aging|August 28, 2014
Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patientsStéphanie Millecamps, Anne De Septenville, Elisa Teyssou, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 15, 2011
Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severityCecilia Marelli, Julie Figoni, Perrine Charles, et al.
Communications Biology|October 23, 2019
Loss of spatacsin impairs cholesterol trafficking and calcium homeostasisMaxime Boutry, Alexandre Pierga, Raphaël Matusiak, et al.
Neurobiology of Disease|July 18, 2012
Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafishElodie Martin, Constantin Yanicostas, Agnès Rastetter, et al.
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