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Plos Genetics|August 2, 2018
Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelinationAmandine Duchesne, Anne Vaiman, Magali Frah, et al.
Human Mutation|July 11, 2012
Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunitiesFlorian Mittag, Finja Büchel, Mohamad Saad, et al.
American Journal of Human Genetics|January 22, 2013
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegiaElodie Martin, Rebecca Schüle, Katrien Smets, et al.
Archives of Neurology|May 11, 2011
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxiaCecilia Marelli, Joyce van de Leemput, Janel O Johnson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 24, 2022
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?Mathieu Barbier, Claire-Sophie Davoine, Emilien Petit, et al.
BMC Medical Genomics|June 20, 2013
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathwaysCecilia Mancini, Paola Roncaglia, Alessandro Brussino, et al.
Orphanet Journal of Rare Diseases|December 16, 2014
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotypeMarie-Lorraine Monin, Cyril Mignot, Pascale De Lonlay, et al.
Amino Acids|July 29, 2015
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disordersCaroline Nava, Johanna Rupp, Jean-Paul Boissel, et al.
Annals of Neurology|August 2, 2003
How much phenotypic variation can be attributed to parkin genotype?Ebba Lohmann, Magali Periquet, Vincenzo Bonifati, et al.
Plos Genetics|February 14, 2009
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects femalesChristel Depienne, Delphine Bouteiller, Boris Keren, et al.
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