Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.

Autor: Cozzi M; Department of Pharmacological and Biomolecular Sciences 'Rodolfo Paoletti' (DiSFeB), Università degli Studi di Milano, 20133, Milan, Italy., Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy., Tedesco B; Department of Pharmacological and Biomolecular Sciences 'Rodolfo Paoletti' (DiSFeB), Università degli Studi di Milano, 20133, Milan, Italy.; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy., Patelli G; Department of Pharmacological and Biomolecular Sciences 'Rodolfo Paoletti' (DiSFeB), Università degli Studi di Milano, 20133, Milan, Italy.; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy., Ferrari V; Department of Pharmacological and Biomolecular Sciences 'Rodolfo Paoletti' (DiSFeB), Università degli Studi di Milano, 20133, Milan, Italy., Casarotto E; Department of Pharmacological and Biomolecular Sciences 'Rodolfo Paoletti' (DiSFeB), Università degli Studi di Milano, 20133, Milan, Italy., Chierichetti M; Department of Pharmacological and Biomolecular Sciences 'Rodolfo Paoletti' (DiSFeB), Università degli Studi di Milano, 20133, Milan, Italy., Pramaggiore P; Department of Pharmacological and Biomolecular Sciences 'Rodolfo Paoletti' (DiSFeB), Università degli Studi di Milano, 20133, Milan, Italy., Cornaggia L; Department of Pharmacological and Biomolecular Sciences 'Rodolfo Paoletti' (DiSFeB), Università degli Studi di Milano, 20133, Milan, Italy., Piccolella M; Department of Pharmacological and Biomolecular Sciences 'Rodolfo Paoletti' (DiSFeB), Università degli Studi di Milano, 20133, Milan, Italy., Galbiati M; Department of Pharmacological and Biomolecular Sciences 'Rodolfo Paoletti' (DiSFeB), Università degli Studi di Milano, 20133, Milan, Italy., Rusmini P; Department of Pharmacological and Biomolecular Sciences 'Rodolfo Paoletti' (DiSFeB), Università degli Studi di Milano, 20133, Milan, Italy., Crippa V; Department of Pharmacological and Biomolecular Sciences 'Rodolfo Paoletti' (DiSFeB), Università degli Studi di Milano, 20133, Milan, Italy., Mandrioli J; Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Centre for Neuroscience and Neurotechnology (CfNN), 41125, Modena, Italy.; Department of Neurosciences, Azienda Ospedaliero-Universitaria di Modena, 41126, Modena, Italy., Pareyson D; Unit of Rare Neurological Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy., Pisciotta C; Unit of Rare Neurological Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy., D'Arrigo S; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy., Ratti A; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, 20054, Segrate, Italy.; Department of Neuroscience - Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, 20095, Cusano Milanino, Italy., Nanetti L; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy., Mariotti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy., Sarto E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy., Pensato V; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy., Gellera C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy., Di Bella D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy., Cristofani RM; Department of Pharmacological and Biomolecular Sciences 'Rodolfo Paoletti' (DiSFeB), Università degli Studi di Milano, 20133, Milan, Italy., Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133, Milan, Italy. franco.taroni@istituto-besta.it., Poletti A; Department of Pharmacological and Biomolecular Sciences 'Rodolfo Paoletti' (DiSFeB), Università degli Studi di Milano, 20133, Milan, Italy. angelo.poletti@unimi.it.

Publikováno v: Cell death & disease [Cell Death Dis] 2024 Sep 27; Vol. 15 (9), pp. 692. Date of Electronic Publication: 2024 Sep 27.

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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.

Autor: Dominik N; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Currò R; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy., Abati E; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy., Facchini S; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; IRCCS Mondino Foundation, Pavia 27100, Italy., Corbetta M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Macpherson H; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Di Bella D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Sarto E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Stevanovski I; Genomics Pillar, Garvan Institute of Medical Research, Sydney 2010, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst 2010, Australia., Chintalaphani SR; Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Darlinghurst 2010, Australia., Akcimen F; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 2292, USA., Manini A; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy.; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20145, Italy., Vegezzi E; IRCCS Mondino Foundation, Pavia 27100, Italy., Quartesan I; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy., Montgomery KA; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Pirota V; Department of Chemistry, University of Pavia, Pavia 27100, Italy.; G4-INTERACT, USERN, 27100 Pavia, Italy., Crespan E; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza', Pavia 27100, Italy., Perini C; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza', Pavia 27100, Italy., Grupelli GP; Institute of Molecular Genetics IGM-CNR 'Luigi Luca Cavalli-Sforza', Pavia 27100, Italy., Tomaselli PJ; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto 2650, Brazil., Marques W; Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto 2650, Brazil., Shaw J; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Polke J; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Salsano E; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy., Fenu S; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy., Pareyson D; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy., Pisciotta C; Clinic of Central and Peripheral Degenerative Neuropathies Unit, IRCCS Foundation, C. Besta Neurological Institute, Milan 20126, Italy., Tofaris GK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK., Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Ealing J; Salford Royal NHS Foundation Trust Greater Manchester Neuroscience Centre, Manchester Centre for Clinical Neurosciences Salford, Greater Manchester M6 8HD, UK., Radunovic A; Barts MND Centre, Royal London Hospital, London E1 1BB, UK., Kearney S; Department of Neurology, Royal Victoria Hospital, Belfast BT12 6BA, UK., Kumar KR; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.; Concord Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2139, Australia., Vucic S; Concord Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2139, Australia.; Brain and Nerve Research Centre, Concord Hospital, Sydney, NSW 2139, Australia., Kennerson M; Molecular Medicine Laboratory, Concord Hospital, Concord, NSW 2139, Australia.; Northcott Neuroscience Laboratory, ANZAC Research Institute SLHD, Sydney, NSW 2050, Australia.; School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2050, Australia., Reilly MM; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Houlden H; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Deveson I; Genomics Pillar, Garvan Institute of Medical Research, Sydney 2010, Australia., Tucci A; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK., Taroni F; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Cortese A; Department of Neuromuscular Diseases, University College London, London WC1N 3BG, UK.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia 27100, Italy.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 5060-5069.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

Autor: Cunha P; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Petit E; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Coutelier M; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Coarelli G; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Mariotti C; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Faber J; German Center for Neurodegenerative Disease (DZNE), 53127 Bonn, Germany; Department of Neurology, University Hospital of Bonn, 53111 Bonn, Germany., Van Gaalen J; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6525 Nijmegen, the Netherlands., Damasio J; Neurology Department, Hospital de Santo António, Centro Hospitalar Universitário de Santo António, 4099-001 Porto, Portugal; CGPP, IBMC-Institute for Molecular and Cell Biology & UnIGENe, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal., Fleszar Z; German Center for Neurodegenerative Disease (DZNE), 72076 Tübingen, Germany; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, 72076 Tübingen, Germany., Tosi M; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, IRCCS, 00165 Rome, Italy., Rocca C; Department of Neuromuscular Diseases, UCL Queen's Square Institute of Neurology, Queen's Square House, Queen's Square, WC1N 3BG London, UK., De Michele G; Department of Neuroscience and Reproductive and Odontostomatological Sciences, University of Naples Federico II, 80131 Naples, Italy., Minnerop M; Institute of Neuroscience and Medicine (INM-1), Research Centre Jülich, 52428 Jülich, Germany; Institute of Clinical Neuroscience and Medical Psychology and Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty & University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany., Ewenczyk C; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Santorelli FM; Molecular Medicine & Neurogenetics, IRCCS Fondazione Stella Maris, 56128 Calambrone, Italy., Heinzmann A; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Bird T; University of Washington, Seattle, WA 98195, USA., Amprosi M; Center for Rare Movement Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Indelicato E; Center for Rare Movement Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Benussi A; Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, 25121 Brescia, Italy., Charles P; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Stendel C; German Center for Neurodegenerative Disease (DZNE), München, Germany; Department of Neurology, Friedrich-Baur Institute, University Hospital of Ludwig-Maximilians-University, Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany., Romano S; Neurosciences, Mental Health, and Sensory Organs (NESMOS) Department, S. Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy., Scarlato M; San Raffaele Hospital and Vita-Salute San Raffaele University, Milan, Italy., Le Ber I; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Bassi MT; Scientific Institute I.R.C.C.S. Eugenio Medea, 23842 Bosisio Parini, Italy., Serrano M; Pediatric Neurology Department, Sant Joan de Déu Hospital, 08950 Barcelona, Spain., Schmitz-Hübsch T; Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany., Doss S; Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany., Van Velzen GAJ; Department of Neurology, Leiden University Medical Center, 2333 Leiden, the Netherlands., Thomas Q; Department of Clinical Genetics, Dijon University Hospital, 21000 Dijon, France., Trabacca A; Scientific Institute I.R.C.C.S. Eugenio Medea, 23842 Bosisio Parini, Italy., Ortigoza-Escobar JD; Pediatric Neurology Department, Sant Joan de Déu Hospital, 08950 Barcelona, Spain., D'Arrigo S; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Timmann D; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, 45147 Essen, Germany., Pantaleoni C; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Martinuzzi A; Scientific Institute I.R.C.C.S. Eugenio Medea, 23842 Bosisio Parini, Italy., Besse-Pinot E; Department of Neurology, Clermont-Ferrand University Hospital, 63000 Clermont-Ferrand, France., Marsili L; Gardner Family Center for Parkinson's Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH 45219, USA., Cioffi E; Sapienza University of Rome, Department of Medico-Surgical Sciences and Biotechnologies, Polo Pontino, 04100 Latina, Italy., Nicita F; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, IRCCS, 00165 Rome, Italy., Giorgetti A; Computational Biomedicine, Institute for Advanced Simulations IAS-5 and Institute of Neuroscience and Medicine INM-9, Forschungszentrum Jülich GmbH, 52428 Jülich, Germany; Department of Biotechnology, Università degli Studi di Verona, 37134 Verona, Italy., Moroni I; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Romaniello R; Scientific Institute I.R.C.C.S. Eugenio Medea, 23842 Bosisio Parini, Italy., Casali C; Sapienza University of Rome, Department of Medico-Surgical Sciences and Biotechnologies, Polo Pontino, 04100 Latina, Italy., Ponger P; Neurology Department, Tel-Aviv Sourasky Medical Center, 6329302 Tel-Aviv, Israel; Sackler School of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel., Casari G; San Raffaele Hospital and Vita-Salute San Raffaele University, Milan, Italy., De Bot ST; Department of Neurology, Leiden University Medical Center, 2333 Leiden, the Netherlands., Ristori G; Neurosciences, Mental Health, and Sensory Organs (NESMOS) Department, S. Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy., Blumkin L; Sackler School of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Pediatric Movement Disorders Clinic, Pediatric Neurology Unit, Wolfson Medical Center, 5822012 Holon, Israel., Borroni B; Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, 25121 Brescia, Italy., Goizet C; University Bordeaux, Equipe « Neurogénétique Translationnelle - NRGEN », INCIA CNRS UMR5287 Université Bordeaux and Centre de Reference Maladies Rares « Neurogénétique », Service de Génétique Médicale, Bordeaux University Hospital (CHU Bordeaux), 33000 Bordeaux, France., Marelli C; MMDN, University Montpellier, EPHE, INSERM and Expert Center for Neurogenetic Diseases, CHU, 34095 Montpellier, France., Boesch S; Center for Rare Movement Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria., Anheim M; Department of Neurology, Strasbourg University Hospital, 67098 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964; CNRS-UMR7104; University of Strasbourg, 67400 Illkirch-Graffenstaden, France., Filla A; Department of Neuroscience and Reproductive and Odontostomatological Sciences, University of Naples Federico II, 80131 Naples, Italy., Houlden H; Department of Neuromuscular Diseases, UCL Queen's Square Institute of Neurology, Queen's Square House, Queen's Square, WC1N 3BG London, UK., Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, IRCCS, 00165 Rome, Italy., Klopstock T; German Center for Neurodegenerative Disease (DZNE), München, Germany; Department of Neurology, Friedrich-Baur Institute, University Hospital of Ludwig-Maximilians-University, Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany., Synofzik M; German Center for Neurodegenerative Disease (DZNE), 72076 Tübingen, Germany; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, 72076 Tübingen, Germany., Riant F; Department of Neurovascular Molecular Genetics, Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Louis, 75010 Paris, France., Zanni G; Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital, IRCCS, 00165 Rome, Italy., Magri S; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Di Bella D; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Nanetti L; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Sequeiros J; CGPP, IBMC-Institute for Molecular and Cell Biology & UnIGENe, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal., Oliveira J; CGPP, IBMC-Institute for Molecular and Cell Biology & UnIGENe, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal., Van de Warrenburg B; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6525 Nijmegen, the Netherlands., Schöls L; German Center for Neurodegenerative Disease (DZNE), 72076 Tübingen, Germany; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, 72076 Tübingen, Germany., Taroni F; Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Brice A; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France., Durr A; Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France. Electronic address: alexandra.durr@icm-institute.org.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 Jul 06; Vol. 110 (7), pp. 1098-1109. Date of Electronic Publication: 2023 Jun 09.

Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.

Autor: Nanetti L; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Magri S; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Fichera M; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Castaldo A; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Nigri A; Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Pinardi C; Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy.; Bassini Hospital, Cinisello Balsamo, Milan, Italy., Mongelli A; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Sarro L; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy.; Neurology Unit, Martini Hospital, Turin, Italy., Pareyson D; Rare Neurodegenerative and Neurometabolic Diseases Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Grisoli M; Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Gellera C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Di Bella D; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Mariotti C; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy., Taroni F; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta Milan, Milan, Italy.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Apr; Vol. 38 (4), pp. 665-675. Date of Electronic Publication: 2023 Feb 17.