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Lorenzo Nanetti

Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Unit of Medical Genetics and Neurogenetics

Via Celoria 11

Milan, 20133

Italy

SCHOLARLY PAPERS

2

DOWNLOADS

222

TOTAL CITATIONS

0

Scholarly Papers (2)

1.

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
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
Downloads 117 (608,822)

Abstract:

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

2.

Progression Characteristics in Friedreich's Ataxia: A 4-Year Observational Study

Number of pages: 29 Posted: 18 Nov 2020
RWTH Aachen University - Department of Neurology, Forschungszentrum Jülich GmbH - ARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, RWTH Aachen University - Department of Medical Statistics, UCL - Queen Square Institute of Neurology - Ataxia Centre, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Unit of Medical Genetics and Neurogenetics, Hôpital de la Pitié-Salpêtrière - Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), Hôpital de la Pitié-Salpêtrière - Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), Medical University of Innsbruck - Department of Neurology, Medical University of Innsbruck - Department of Neurology, Ludwig Maximilian University of Munich (LMU) - The Friedrich-Baur-Institute, Ludwig Maximilian University of Munich (LMU) - The Friedrich-Baur-Institute, La Paz Institute for Health Research (IdiPAZ) - Reference Unit of Hereditary Ataxias and Paraplegias, University of Tübingen - Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen - Department of Neurology and Hertie-Institute for Clinical Brain Research, University Hospital Bonn (UKB) - Department of Neurology, University Hospital Bonn (UKB) - Department of Neurology, RWTH Aachen University - Department of Neurology, Université Libre de Bruxelles (ULB) - Laboratory of Experimental Neurology, Université Libre de Bruxelles (ULB) - Laboratory of Experimental Neurology, RWTH Aachen University - Department of Neurology and Independent
Downloads 105 (664,543)

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functional outcome, natural history study, sample size, neuromuscular disease, ambulatory