Cinzia Gellera

Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Unit of Genetics of Neurodegenerative and Metabolic Diseases

Milan, 20133

Italy

SCHOLARLY PAPERS

3

DOWNLOADS

262

TOTAL CITATIONS

8

Scholarly Papers (3)

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 114 (478,187)

Abstract:

Loading...

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

2.

Mutations in the Sphingolipid Pathway Gene SPTLC1 are a Cause of Amyotrophic Lateral Sclerosis

Number of pages: 85 Posted: 06 Jun 2019
National Institutes of Health - Neuromuscular Diseases Research Section, National Institutes of Health - Neuromuscular Diseases Research Section, Government of the United States of America - National Institutes of Health (NIH), King’s College London - Maurice Wohl Clinical Neuroscience Institute, National Institutes of Health - Neuromuscular Diseases Research Section, National Institutes of Health - Molecular Genetics Section, National Institutes of Health - Neuromuscular Diseases Research Section, United Kingdom Dementia Research Institute Centre, National Institutes of Health - Neurodegenerative Diseases Research Unit, National Institutes of Health - Computational Biology Core, National Institutes of Health - Computational Biology Core, National Institutes of Health, Government of the United States of America - National Institutes of Health (NIH), Government of the United States of America - Center for Alzheimer's and Related Dementias (CARD), Government of the United States of America - Center for Alzheimer's and Related Dementias (CARD), Johns Hopkins University - School of Medicine, Johns Hopkins University - Department of Pathology, National Institutes of Health - Neurodegenerative Diseases Research Unit, National Institutes of Health - Neurodegenerative Diseases Research Unit, National Institutes of Health - Neurodegenerative Diseases Research Unit, Uniformed Services University of the Health Sciences, United Kingdom Dementia Research Institute Centre, King’s College London - Maurice Wohl Clinical Neuroscience Institute, King’s College London - Maurice Wohl Clinical Neuroscience Institute, King’s College London - Department of Basic and Clinical Neuroscience, King’s College London - Department of Basic and Clinical Neuroscience, University of Milan - Department of Neurology and Laboratory of Neuroscience, University of Massachusetts Worcester - Department of Neurology, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Unit of Genetics of Neurodegenerative and Metabolic Diseases, Macquarie University - Centre for MND Research, University of New South Wales (UNSW) - School of Medical Sciences (SoMS), University of New South Wales (UNSW) - School of Medical Sciences (SoMS), National Institutes of Health, Independent, Independent, Independent, Independent, University of Massachusetts Worcester - Department of Neurology, University of Massachusetts Worcester - Department of Neurology, University of Southampton - Faculty of Medicine, Health and Life Sciences, University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN), King’s College London - Maurice Wohl Clinical Neuroscience Institute, University of Massachusetts Worcester - Department of Neurology, ASO OIRM-S.Anna, University of Turin - Department of Neurosciences, Azienda Ospedaliera Universitaria Maggiore della Carità - ALS Center, Hebrew University of Jerusalem, King’s College London - Maurice Wohl Clinical Neuroscience Institute, University of Massachusetts Worcester - Department of Neurology, University of Massachusetts Worcester - Department of Neurology, Johns Hopkins University - Department of Pediatrics, King’s College London - Maurice Wohl Clinical Neuroscience Institute and University of Massachusetts Worcester - Department of Neurology
Downloads 86 (578,119)
Citation 4

Abstract:

Loading...

amyotrophic lateral sclerosis, genomics, de novo mutation, sphingolipid metabolism, SPTLC1, serine nutritional supplementation, deoxymethyl-sphinganine, individualized medicine

3.

Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

Number of pages: 74 Posted: 06 Aug 2018
Aude Nicolas, Kevin P. Kenna, Alan E. Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A. Dominov, Brendan J. Kenna, Mike A. Nalls, Pamela Keagle, Alberto M. Rivera, Wouter van Rheenen, Natalie A. Murphy, Joke J.F.A. van Vugt, Joshua T. Geiger, Rick A. Van der Spek, Hannah A. Pliner, Bradley N. Smith, Giuseppe Marangi, Simon D. Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D. Eicher, Aoife Kenna, ITALSGEN Consortium, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L. Conforti, Giuseppe Borghero, Sonia Messina, Isabella L. Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O. Logullo, Sandra D’Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Genomic Translation for ALS Care (GTAC) Consortium, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B. Goldstein, The ALS Sequencing Consortium, Aaron D. Gitler, Tim Harris, Richard M. Myers, NYGC ALS Consortium, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael Charles Zody, Answer ALS Foundation, Julia Kaye, Steven Finkbeiner, Stacia Wyman, Alex Lenail, Leandro Lima, Ernest Fraenkel, Clive N. Svendsen, Leslie M. Thompson, Jennifer E. Van Eyk, James D. Berry, Timothy M. Miller, Stephen J. Kolb, Merit Cudkowicz, Emily Baxi, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Michael Benatar, J. Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, SLAGEN Consortium, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P. Comi, Gianni Sorarù, Cristina Cereda, French ALS Consortium, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hesham Hamdallah, Sara Rollinson, Stuart Pickering-Brown, Richard W. Orrell, Katie C. Sidle, Andrea Malaspina, John Hardy, Andrew B. Singleton, Janel O. Johnson, Sampath Arepalli, Peter C. Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor LMA ten Asbroek, José Luis Muñoz-Blanco, Dena G. Hernandez, Jinhui Ding, J. Raphael Gibbs, Sonja W. Scholz, Mary Kay Floeter, Roy H. Campbell, Francesco Landi, Stefan M. Pulst, John M. Ravits, Daniel J. L. MacGowan, Janine Kirby, Erik Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L. Dunckley, Christopher B. Brady, Neil W. Kowall, Juan Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D. Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H. Baloh, Tim M. Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R. Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L. McLaughlin, Michael A. Van Es, Markus Weber, Kevin B. Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E. Morrison, A. Nazli Basak, Jesús S. Mora, Vivian E. Drory, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Orla Hardiman, Kelly L. Williams, Jennifer A. Fifita, Garth A. Nicholson, Ian P. Blair, Guy A. Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Project MinE ALS Sequencing Consortium, Ekaterina Rogaeva, Lorne Zinman, Lyle Ostrow, Nicholas J. Maragakis, Jeffrey D. Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A. Goutman, Eva L. Feldman, Summer B. Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, William Camu, John Q. Trojanowski, Vivianna M. Van Deerlin, Robert H. Brown, Leonard H. van den Berg, Jan H. Veldink, Matthew B. Harms, Jonathan D. Glass, David J. Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E. Shaw, Bryan J. Traynor and John E. Landers
Government of the United States of America - Neuromuscular Diseases Research Section, University of Massachusetts Worcester - Department of Neurology, Icahn School of Medicine at Mount Sinai - Nash Department of Neuroscience, University of Milan - Department of Neurology and Laboratory of Neuroscience, National Institutes of Health - Molecular Genetics Section, National Institutes of Health - Neuromuscular Diseases Research Section, University of Massachusetts Worcester - Department of Neurology, University of Massachusetts Worcester - Department of Neurology, National Institutes of Health - Molecular Genetics Section, University of Massachusetts Worcester - Department of Neurology, Government of the United States of America - Neuromuscular Diseases Research Section, Utrecht University - Department of Neurology, Government of the United States of America - Neuromuscular Diseases Research Section, Utrecht University - Department of Neurology, Government of the United States of America - Neurodegenerative Diseases Research Unit, Utrecht University - Department of Neurology, National Institutes of Health - Neurodegenerative Diseases Research Unit, United Kingdom Dementia Research Institute Centre, Government of the United States of America - Neuromuscular Diseases Research Section, United Kingdom Dementia Research Institute Centre, National Institutes of Health - Neuromuscular Diseases Research Section, United Kingdom Dementia Research Institute Centre, Merck & Co., Inc. - Genetics and Pharmacogenomics, University of Massachusetts Worcester - Department of Neurology, Independent, Azienda Ospedaliera Universitaria Maggiore della Carità - ALS Center, University of Turin - Department of Neurosciences, Azienda Ospedaliera Universitaria Maggiore della Carità - ALS Center, Università Vita-Salute San Raffaele - Department of Neurology, Azienda Ospedaliero Universitaria di Modena - Department of Neuroscience, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) - Ophthalmology, Genetics, Rehabilitation, Maternal and Child Health, University of Siena - Department of Medical, Surgical and Neurological Sciences, Salvatore Maugeri Foundation IRCCS - ALS Center, University of Palermo - ALS Clinical Research Center, University of Palermo - ALS Clinical Research Center, Universita di Cagliari - Department of Neurology, University of Messina - Department of Clinical and Experimental Medicine, Università degli Studi di Bari “Aldo Moro” (UNIBA) - Department of Basic Medical Sciences, Neurosciences and Sense Organs, Università degli Studi della Campania - Department of Medical, Surgical, Neurological, Metabolic and Aging Sciences, IRCCS Istituto delle Scienze Neurologiche di Bologna (ISNB) - Il Bene Center for Immunological and Rare Neurological Diseases, Polytechnic University of Marche - Neurological Clinic, University of Eastern Piedmont - Department of Health Sciences, University of Eastern Piedmont - Department of Health Sciences, 'Gabriele d'Annunzio' University of Chieti-Pescara - Department of Neurology, Government of the United States of America - Longitudinal Studies Section, Independent, Columbia University Medical Center, Department of Neurology, Columbia University Medical Center, Department of Neurology, Columbia University - Institute for Genomic Medicine, Independent, Stanford University - Genetics Department, Bioverativ, HudsonAlpha Institute for Biotechnology, Independent, New York Genome Center - Center for Genomics of Neurodegenerative Diseases (CGND), New York Genome Center - Computational Biology, New York Genome Center - Computational Biology, New York Genome Center - Computational Biology, New York Genome Center - Computational Biology, Independent, University of California, San Francisco (UCSF) - Gladstone Institute of Neurological Disease, University of California, San Francisco (UCSF) - Gladstone Institute of Neurological Disease, University of California, San Francisco (UCSF) - Gladstone Institutes, Massachusetts Institute of Technology (MIT) - Department of Biological Engineering, University of California, San Francisco (UCSF) - Gladstone Institute of Neurological Disease, Massachusetts Institute of Technology (MIT) - Department of Biological Engineering, Cedars Sinai Medical Center - Board of Governors Regenerative Medicine Institute, University of California, Irvine - Department of Neurobiology and Behavior, Cedars Sinai Medical Center - Department of Medicine, Harvard University - Department of Neurology, Washington University in St. Louis - Department of Neurology, Ohio State University (OSU) - Department of Neurology, Harvard University - Department of Neurology, Johns Hopkins University - Department of Neurology and Neurosurgery, Independent, University of Miami - Department of Neurology, Howard Hughes Medical Institute (HHMI) - Chevy Chase, St Jude Children’s Research Hospital - Department of Computational Biology, St Jude Children’s Research Hospital - Department of Computational Biology, University of Miami - Department of Neurology, Independent, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - 3rd Neurology Unit, University of Milan - Department of Neurology, King’s College London - Maurice Wohl Clinical Neuroscience Institute, University of Milan - Department of Neurology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico - Neurology Unit, University of Padua - Department of Neurosciences, IRCCS ‘C. Mondino’ National Institute of Neurology Foundation - Experimental Neurobiology Laboratory, Independent, François Rabelais University - ALS Center, University of Helsinki - Molecular Neurology Programme, University of Helsinki - Department of Pathology, University of Helsinki - Molecular Neurology Programme, University of Helsinki - Department of Neurology, Government of the United Kingdom - Department of Neurology, Government of the United Kingdom - Department of Neurology, The University of Manchester - Faculty of Human and Medical Sciences, The University of Manchester - Faculty of Human and Medical Sciences, University College London - Department of Clinical Neuroscience, University College London - Department of Molecular Neuroscience, Queen Mary University of London, Barts and The London School of Medicine and Dentistry, Blizard Institute, Wingate Institute of Neurogastroenterology, Centre for Neuroscience and Trauma, University College London - Department of Molecular Neuroscience, Government of the United States of America - Laboratory of Neurogenetics, Government of the United States of America - Neuromuscular Diseases Research Section, Government of the United States of America - Genomics Technology Group, University of Massachusetts Worcester - Department of Neurology, University of Massachusetts Worcester - Department of Neurology, Emory University - Department of Neurology, Emory University - Department of Neurology, United Kingdom Dementia Research Institute Centre, United Kingdom Dementia Research Institute Centre, United Kingdom Dementia Research Institute Centre, United Kingdom Dementia Research Institute Centre, Imperial College London - Division of Brain Sciences, University of Amsterdam - Department of Genome analysis and Neurogenetics, University of Amsterdam - Department of Neurogenetics and Neurology, Gregorio Marañón Hospital - Unidad de ELA, Government of the United States of America - Genomics Technology Group, National Institutes of Health - Computational Biology Core, National Institutes of Health - Computational Biology Core, National Institutes of Health - Neurodegenerative Diseases Research Unit, Government of the United States of America - Motor Neuron Disorders Unit, University of Illinois at Urbana-Champaign - Department of Computer Science, Catholic University of Rome - Center for Geriatric Medicine, University of Utah - Department of Neurology, University of California, San Diego (UCSD) - Department of Neurosciences, Mount Sinai Health System - Mount Sinai Beth Israel Hospital, University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN), Cleveland Clinic - Department of Neurology, The University of Sydney - Discipline of Pathology, Pennsylvania State University - Department of Biochemistry, Pennsylvania State University - Department of Pathology, Pennsylvania State University - Department of Pathology, Government of the United States of America - Research and Development Service, Government of the United States of America - Neurology Service, Johns Hopkins University - Department of Pathology, Sorbonne University - University Hospitals Pitié Salpêtrière - Charles Foix, UNIMES - Université de Nîmes - Department of Biochemistry, UNIMES - Université de Nîmes - Department of Biochemistry, Temple University - Department of Neurology, Government of the United States of America - Epidemiology Branch, KU Leuven - Division of Experimental Neurology, Cedars Sinai Medical Center - Department of Neurology, Helmholtz Association of German Research Centres - Institute of Human Genetics, Technische Universität München (TUM) - Institute of Human Genetics, King’s College London - Maurice Wohl Clinical Neuroscience Institute, Utrecht University - Department of Neurology, University of Lisbon - Institute of Physiology, SURFsara, Utrecht University - Department of Neurology, KU Leuven - Division of Experimental Neurology, Trinity College (Dublin) - Population Genetics Laboratory, Utrecht University - Department of Neurology, Kantonsspital St. Gallen - Neuromuscular Diseases Unit/ALS Clinic, Mayo Clinic - Florida - Department of Neurology, Mayo Clinic - Florida - Department of Neuroscience, Mayo Clinic - Florida - Department of Neuroscience, University of Southampton - Faculty of Medicine, Health and Life Sciences, Bogazici University - Suna and Inan Kırac Foundation, Hospital San Rafael - ALS Unit/Neurology, Tel Aviv Sourasky Medical Centre - Department of Neurology, University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN), University of Oxford - Nuffield Department of Clinical Neurosciences, University of Oxford - Nuffield Department of Clinical Neurosciences, Trinity College (Dublin) - Academic Unit of Neurology, Macquarie University - Centre for MND Research, Macquarie University - Centre for MND Research, Macquarie University - Centre for MND Research, Macquarie University - Centre for MND Research, McGill University - Montreal Neurological Institute and Hospital, Gregorio Marañón Hospital - Unidad de ELA, Gregorio Marañón Hospital - Unidad de ELA, King’s College London - Maurice Wohl Clinical Neuroscience Institute, Independent, University of Toronto - Tanz Centre for Research of Neurodegenerative Diseases, University of Toronto - Division of Neurology, Johns Hopkins University - Department of Neurology and Neurosurgery, Johns Hopkins University - Department of Neurology and Neurosurgery, Johns Hopkins University - Brain Science Institute, Pennsylvania State University - Department of Neurology, University of Sheffield - Sheffield Institute for Translational Neuroscience (SITraN), Sorbonne University - University Hospitals Pitié Salpêtrière - Charles Foix, University of Michigan at Ann Arbor - Department of Neurology, University of Michigan at Ann Arbor - Department of Neurology, University of Utah - Department of Neurology, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Unit of Genetics of Neurodegenerative and Metabolic Diseases, University of Milan - Department of Pathophysiology and Transplantation, Fondazione IRCCS Istituto Neurologico ‘Carlo Besta’ - Unit of Genetics of Neurodegenerative and Metabolic Diseases, KU Leuven - Laboratory of Neurobiology, KU Leuven - Laboratory of Neurobiology, University College London - Sobell Department of Motor Neuroscience and Movement Disorders, Catholic University of Rome - Institute of Neurology, Centro Clinico NeMO, Serena Foundation Onlus - Clinical Center NEMO (NEuroMuscular Omnicenter), Ulm University - Department of Neurology, Umeå University - Department of Pharmacology and Clinical Neuroscience, Ulm University - Department of Neurology, University of Montpellier - ALS Center, University of Pennsylvania - Department of Pathology and Lab Medicine, University of Pennsylvania - Department of Pathology and Lab Medicine, University of Massachusetts Worcester - Department of Neurology, Utrecht University - Department of Neurology, Utrecht University - Department of Neurology, Columbia University Medical Center, Department of Neurology, Emory University - Department of Neurology, University of Massachusetts Worcester - Department of Neurology, University of Massachusetts Worcester - Department of Neurology, University of Massachusetts Worcester - Department of Neurology, University of Massachusetts Worcester - Department of Neurology, University of Massachusetts Worcester - Department of Neurology, University of Massachusetts Worcester - Department of Neurology and University of Massachusetts Worcester - Department of Neurology
Downloads 62 (689,494)
Citation 4

Abstract:

Loading...