title: Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans.
authors.affiliation: Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano, 10043, Italy.|Department of Clinical and Biological Sciences, University of Torino, Orbassano, 10043, Italy.
authors.forename: Giorgia
authors.initials: G
authors.lastname: Mandrile
authors.affiliation: Department of Medical Sciences, University of Torino, via Santena 19, Torino, 10126, Italy.|Medical Genetics, Città della Salute e della Scienza di Torino University Hospital, Torino, 10126, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Di Gregorio
authors.affiliation: Faculty of Health and Medicine, Callaghan and Hunter Genetics, University of Newcastle, Waratah, NSW2308, Australia.
authors.forename: Himanshu
authors.initials: H
authors.lastname: Goel
authors.affiliation: Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano, 10043, Italy.|Department of Clinical and Biological Sciences, University of Torino, Orbassano, 10043, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Giachino
authors.affiliation: Department of Clinical and Biological Sciences, University of Torino, Orbassano, 10043, Italy.|Neurology Division, San Luigi Gonzaga University Hospital, Orbassano, 10043, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: De Mercanti
authors.affiliation: Neurology Division, San Luigi Gonzaga University Hospital, Orbassano, 10043, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Iudicello
authors.affiliation: Azienda Sanitaria Locale TO3 di Collegno e Pinerolo, Neuropsichiatria Infantile, Collegno, 10093, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Rolando
authors.affiliation: Azienda Sanitaria Locale TO3 di Collegno e Pinerolo, Neuropsichiatria Infantile, Collegno, 10093, Italy.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Losa
authors.affiliation: Medical Genetics, San Luigi Gonzaga University Hospital, Orbassano, 10043, Italy.|Department of Clinical and Biological Sciences, University of Torino, Orbassano, 10043, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: De Marchi
authors.affiliation: Department of Medical Sciences, University of Torino, via Santena 19, Torino, 10126, Italy. alfredo.brusco@unito.it.|Medical Genetics, Città della Salute e della Scienza di Torino University Hospital, Torino, 10126, Italy. alfredo.brusco@unito.it.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Brusco
mesh_terms: D002531:Cerebellum / Q000503:physiopathology*; D002648:Child; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D008840:Microfilament Proteins / Q000172:deficiency / Q000378:metabolism*; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000503:physiopathology*
chemical_list: C412617:KLHL1 protein, human; D008840:Microfilament Proteins
keywords: ATXNOS8; Ataxia; Genomic deletion; KLHL1; SCA8