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Elena Rizzo

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta

Via Celoria 11

Milan, 20133

Italy

  • Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta

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Digenic inheritance of STUB1 variants and TBP polyglutamine expansions solves the enigma of SCA17 and SCA48 incomplete penetrance

Genetics in Medicine (Forthcoming)
Number of pages: 88 Posted: 08 Oct 2021
Stefania  Magri, Lorenzo Nanetti, Cinzia Gellera, Elisa Sarto, Elena Rizzo, Alessia Mongelli , Benedetta Ricci, Roberto Fancellu , Luisa Sambati , Pietro Cortelli , Alfredo Brusco, Maria Grazia Bruzzone , Caterina Mariotti, Daniela Di Bella and Franco Taroni
Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Unit of Genetics of Neurodegenerative and Metabolic Diseases, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta,, UO Neurologia, IRCCS Ospedale Policlinico San Martino,, IRCCS Istituto delle Scienze Neurologiche di Bologna; Dipartimento di Scienze Biomediche e Neuromotorie, Università degli Studi di Bologna, University of Bologna - Department of Biomedical and Neuromotor Sciences, University of Turin - Department of Medical Sciences, Unit of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta,, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Unit of Medical Genetics and Neurogenetics, Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta and Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Unit of Genetics of Neurodegenerative and Metabolic Diseases
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Abstract:

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Spinocerebellar ataxia, Huntington Disease-Like phenotype, digenic disease, trinucleotide repeat expansion, polyglutamine, CHIP