Two more families supporting the existence of monogenic spinocerebellar ataxia 48.

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作者： Flavia,Palombo ^[1] ; Alessandro,Vaisfeld ^[2] ; Valentina Concetta,Tropeano ^[3] ; Danara,Ormanbekova ^[3] ; Isabelle,Bacchi ^[2] ; Claudio,Fiorini ^[3] ; Adelaide,Peruzzi ^[2] ; Luca,Morandi ^[4] ; Rocco,Liguori ^[4] ; Valerio,Carelli ^[5] ; Giovanni,Rizzo ^[6]

作者单位： IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Via Altura 3, Bologna, 40139, Italy. palombo.flavia@gmail.com. ^[1] IRCCS Azienda Ospedaliero-Universitaria Policlinico Sant'Orsola-Malpighi, Medical Genetics Unit, Bologna, Italy.;Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy. ^[2] IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Via Altura 3, Bologna, 40139, Italy. ^[3] IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.;Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. ^[4] IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Via Altura 3, Bologna, 40139, Italy.;Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. ^[5] IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy. ^[6]

关键词 STUB1 TBP intermediate alleles Cerebellar ataxia SCA17 SCA48