S
Stefano Di Donato
Researcher at Carlo Besta Neurological Institute
Publications - 54
Citations - 6383
Stefano Di Donato is an academic researcher from Carlo Besta Neurological Institute. The author has contributed to research in topics: Huntington's disease & Ataxia. The author has an hindex of 32, co-authored 48 publications receiving 5899 citations. Previous affiliations of Stefano Di Donato include Karolinska University Hospital.
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Journal ArticleDOI
Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
Victoria Campuzano,Laura Montermini,María Dolores Moltó,Luigi Pianese,Mireille Cossée,F Cavalcanti,Eugenia Monros,François Rodius,Franck Duclos,Antonella Monticelli,Federico Zara,Joaquín Cañizares,Hana Koutnikova,Sanjay I. Bidichandani,Cinzia Gellera,Alexis Brice,Paul Trouillas,Giuseppe De Michele,Alessandro Filla,Rosa de Frutos,Francisco Palau,Pragna Patel,Stefano Di Donato,Jean-Louis Mandel,Sergio Cocozza,Michel Koenig,Massimo Pandolfo +26 more
TL;DR: A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.
Journal ArticleDOI
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
Daniela Di Bella,Federico Lazzaro,Alfredo Brusco,Massimo Plumari,Giorgio Battaglia,Annalisa Pastore,Adele Finardi,Claudia Cagnoli,Filippo Tempia,Marina Frontali,Liana Veneziano,Tiziana Sacco,Enrica Boda,Alessandro Brussino,Florian Bonn,Barbara Castellotti,Silvia Baratta,Caterina Mariotti,Cinzia Gellera,Valentina Fracasso,Stefania Magri,Thomas Langer,Paolo Plevani,Stefano Di Donato,Marco Muzi-Falconi,Franco Taroni +25 more
TL;DR: This work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegenersation.
Journal ArticleDOI
Dysfunction of the Cholesterol Biosynthetic Pathway in Huntington's Disease
Marta Valenza,Dorotea Rigamonti,Donato Goffredo,Chiara Zuccato,Simone Fenu,Laure Jamot,Andrew D. Strand,Alessia Tarditi,Ben Woodman,Marco Racchi,Caterina Mariotti,Stefano Di Donato,Alberto Corsini,Gillian P. Bates,Rebecca Pruss,James M. Olson,Simonetta Sipione,Marzia Tartari,Elena Cattaneo +18 more
TL;DR: It is concluded that the cholesterol biosynthetic pathway is impaired in HD cells, mice, and human subjects, and that the search for HD therapies should also consider cholesterol levels as both a potential target and disease biomarker.
Journal ArticleDOI
Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion
Laura Montermini,Andrea Richeter,Kenneth Morgan,Cristina M. Justice,Dominique Julien,Barbara Castellotti,Jocelyne Mercier,Josée Poirier,Fiorentino Capozzoli,Jean-Pierre Bouchard,Bernard Lemieux,Jean Mathieu,Michel Vanasse,Marie-Helene Seni,Gail Graham,Frederick Andermann,Eva Andermann,Serge B. Melançon,Bronya J.B. Keats,Stefano Di Donato,Massimo Pandolfo +20 more
TL;DR: The study indicated the existence of several sources of variability in FRDA, and some clinical variants associated with specific FRDA haplotypes, such as Acadian FRDA and FARR, turned out to be unrelated to expansion sizes.
Journal ArticleDOI
Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
Davina J. Hensman Moss,Antonio F. Pardiñas,Douglas R. Langbehn,Kitty Lo,Blair R. Leavitt,Raymund A.C. Roos,Alexandra Durr,Simon Mead,A. Coleman,R. Dar Santos,J Decolongon,A Sturrock,Eric Bardinet,C Jauff Ret,D Justo,S Lehericy,C Marelli,K. Nigaud,Romain Valabregue,Sja van den Bogaard,E M Dumas,J. van der Grond,EP t'Hart,C Jurgens,M-N Witjes-Ane,N Arran,J Callaghan,C Stopford,Chris Frost,Randi Jones,Nicola Z. Hobbs,N Lahiri,Roger J. Ordidge,Gail Owen,Tracey Pepple,J Read,Miranda J. Say,E Wild,Ameen Patel,Nick C. Fox,C Gibbard,Ian B. Malone,HE Crawford,D Whitehead,S. E. Keenan,David M. Cash,Claire M. Berna,N Bechtel,S Bohlen,A Hoff Man,P H Kraus,Eric Axelson,C Wang,T Acharya,Sang Hong Lee,W Monaco,C Campbell,Sarah Queller,K.B. Whitlock,Meghan C. Campbell,E Frajman,C Milchman,A O'Regan,Izelle Labuschagne,Julie C. Stout,B Landwehrmeyer,D Craufurd,RI Scahill,Stephen Hicks,Christopher Kennard,Hans J. Johnson,Allan J. Tobin,H. D. Rosas,R Reilmann,Beth Borowsky,C Pourchot,Sophie C. Andrews,Anne-Catherine Bachoud-Lévi,Anna Rita Bentivoglio,Ida Biunno,Raphael Bonelli,Jean-Marc Burgunder,Stephen B. Dunnett,Joaquim Ferreira,Olivia Handley,Arvid Heiberg,Torsten Illmann,G. Bernhard Landwehrmeyer,Jamie Levey,Maria A. Ramos-Arroyo,Jorgen E. Nielsen,Susana Pro Koivisto,Markku Päivärinta,R A C Roos,A Rojo Sebastián,Sarah Tabrizi,Wim Vandenberghe,Christine Verellen-Dumoulin,Tereza Uhrová,Jan Wahlström,Jacek Zaremba,Verena Baake,Katrin Barth,Monica Bascuñana Garde,Sabrina Betz,Reineke Bos,Jenny Callaghan,Adrien Come,Leonor Correia Guedes,D. Ecker,Ana Maria Finisterra,Ruth Fullam,Mette Gilling,Lena Gustafsson,Olivia J. Handley,Carina Hvalstedt,Christine Held,Kerstin Koppers,Claudia Lamanna,Matilde Laura,Asunción Martínez Descals,Saul Martinez-Horta,Tiago A. Mestre,Sara Minster,D. Monza,Lisanne Mütze,Martin Oehmen,Michael Orth,Hélène Padieu,Laurent Paterski,Nadia Peppa,Martina Di Renzo,Amandine Rialland,Niini Røren,Pavla Šašinková,Erika Timewell,Jenny Townhill,Patricia Trigo Cubillo,Wildson Vieira da Silva,Marleen R. van Walsem,Carina Whalstedt,Marie-Noëlle W. Witjes-Ané,Grzegorz Witkowski,Abigail Wright,Daniel Zielonka,Eugeniusz Zielonka,Paola Zinzi,Raphael M. Bonelli,Sabine Lilek,Karen Hecht,Brigitte Herranhof,Anna Holl,Hans-Peter Kapfhammer,Michael Koppitz,Markus Magnet,Nicole Müller,Daniela Otti,Annamaria Painold,Karin Reisinger,Monika Scheibl,Helmut Schöggl,Jasmin Ullah,Eva-Maria Braunwarth,Florian Brugger,Lisa Buratti,Eva-Maria Hametner,Caroline Hepperger,Christiane Holas,Anna Hotter,Anna Hussl,Christoph Müller,Werner Poewe,Klaus Seppi,Fabienne Sprenger,Gregor K. Wenning,Andrea Boogaerts,Godelinde Calmeyn,Isabelle Delvaux,Dirk Liessens,Nele Somers,Michel Dupuit,Cécile Minet,Dominique van Paemel,Pascale Ribai,Dimphna van Reijen,Jiri Klempir,Veronika Majerová,Jan Roth,Irena Stárková,Lena E. Hjermind,Oda Jacobsen,Jørgen E. Nielsen,Ida Unmack Larsen,Tua Vinther-Jensen,Heli Hiivola,Hannele Hyppönen,Kirsti Martikainen,Katri Tuuha,Philippe Allain,Dominique Bonneau,Marie Bost,Bénédicte Gohier,Marie-Anne Guérid,Audrey Olivier,Adriana Prundean,Clarisse Scherer-Gagou,Christophe Verny,Blandine Babiloni,Sabrina Debruxelles,Charlotte Duché,Cyril Goizet,Laetitia Jameau,Danielle Lafoucrière,Umberto Spampinato,Rekha Barthélémy,Christelle De Bruycker,Maryline Cabaret Anne-Sophie Carette,Eric Decorte Luc Defebvre,Marie Delliaux,Arnaud Delval,Alain Destée,Kathy Dujardin,Marie-Hélène Lemaire,Sylvie Manouvrier,Mireille Peter,Lucie Plomhouse,Bernard Sablonnière,Clémence Simonin,Stéphanie Thibault-Tanchou,Isabelle Vuillaume,Marcellin Bellonet,Hassan Berrissoul,Stephanie Blin,Françoise Courtin,Cécile Duru,Véronique Fasquel,Olivier Godefroy,Pierre Krystkowiak,Béatrice Mantaux,Martine F. Roussel,Sandrine Wannepain,Jean-Philippe Azulay,Marie Delfini,Alexandre Eusebio,Frédérique Fluchère,Laura Mundler,Mathieu Anheim,Celine Julié,Ouhaid Lagha Boukbiza,Nadine Longato,Gabrielle Rudolf,Christine Tranchant,Marie-Agathe Zimmermann,Christoph Michael Kosinski,Eva Milkereit,Daniela Probst,Kathrin Reetz,Christian Sass,Johannes Schiefer,Christiane Schlangen,Cornelius J. Werner,Harald Gelderblom,Josef Priller,Harald Prüß,Eike Jakob Spruth,Gisa Ellrichmann,Lennard Herrmann,Rainer Hoffmann,Barbara Kaminski,Peter Kotz,Christian Prehn,Carsten Saft,Herwig W. Lange,Robert Maiwald,Matthias Löhle,Antonia Maass,Simone Schmidt,Cecile Bosredon,Alexander Storch,Annett Wolz,Martin Wolz,Philipp Capetian,Johann Lambeck,Birgit Zucker,Kai Boelmans,Christos Ganos,Walburgis Heinicke,Ute Hidding,Jan Lewerenz,Alexander Münchau,Jenny Schmalfeld,Lars Stubbe,Simone Zittel,Gabriele Diercks,Dirk Dressler,Heike Gorzolla,Christoph Schrader,Pawel Tacik,Michael Ribbat,Bernhard Longinus,Katrin Bürk,Jens Carsten Möller,Ida Rissling,Mark Mühlau,Alexander Peinemann,Michael Städtler,Adolf Weindl,Juliane Winkelmann,Cornelia Ziegler,N Bechtel,Heike Beckmann,S. Bohlen,E Hölzner,Ralf Reilmann,Stefanie Rohm,Silke Rumpf,Sigrun Schepers,Natalia Weber,Matthias Dose,Gabriele Leythäuser,Ralf Marquard,Tina Raab,Alexandra Wiedemann,Andrea Buck,Julia Connemann,Carolin Geitner,Andrea Kesse,Bernhard Landwehrmeyer,Christina Lang,Franziska Lezius,Solveig Nepper,Anke Niess,Ariane Schneider,Daniela Schwenk,Sigurd D. Süßmuth,Sonja Trautmann,Patrick Weydt,Claudia Cormio,Vittorio Sciruicchio,Claudia Serpino,Marina de Tommaso,Sabina Capellari,Pietro Cortelli,Roberto Galassi,Giovanni Rizzo,Roberto Poda,Cesa Scaglione,E Bertini,Elena Ghelli,Andrea Ginestroni,Francesca Massaro,Claudia Mechi,Marco Paganini,Silvia Piacentini,Silvia Pradella,Anna Maria Romoli,Sandro Sorbi,Giovanni Abbruzzese,Monica Bandettini di Poggio,Giovanna Ferrandes,Paola Mandich,Roberta Marchese,Alberto Albanese,Daniela Di Bella,Anna Castaldo,Stefano Di Donato,Cinzia Gellera,S. Genitrini,Caterina Mariotti,Lorenzo Nanetti,D. Paridi,Paola Soliveri,Chiara Tomasello,Giuseppe De Michele,Luigi Di Maio,Marco Massarelli,Silvio Peluso,Alessandro Roca,Cinzia Valeria Russo,Elena Salvatore,Pierpaolo Sorrentino,Enrico Amico,Mariagrazia Favellato,Annamaria Griguoli,Irene Mazzante,Martina Petrollini,Ferdinando Squitieri,Barbara D'Alessio,Chiara Esposito,Rita Bentivoglio,Marina Frontali,Arianna Guidubaldi,Tamara Ialongo,Gioia Jacopini,Carla Piano,Silvia Romano,Francesco Soleti,Maria Spadaro,Monique S.E. van Hout,Marloes E. Verhoeven,Jeroen P. P. van Vugt,A. Marit de Weert,J.J.W. Bolwijn,Marieke C. J. Dekker,B. Kremer,Klaus L. Leenders,J.C.H. van Oostrom,Simon J.A. van den Bogaard,Eve M. Dumas,Ellen P. Hart,Berry Kremer,C.C.P. Verstappen,Olaf Aaserud,Jan Frich C,Ragnhild Wehus,Kathrine Bjørgo,Madeleine Fannemel,Per F. Gørvell,Eirin Lorentzen,Lars Retterstøl,Bodil Stokke,Inga Bjørnevoll,Sigrid Botne Sando,Artur Dziadkiewicz,Malgorzata Nowak,Piotr Robowski,Emilia J. Sitek,Jarosław Sławek,Witold Sołtan,Michal Szinwelski,Magdalena Blaszcyk,Magdalena Boczarska-Jedynak,Ewelina Ciach-Wysocka,Agnieszka Gorzkowska,Barbara Jasinska-Myga,Gabriela Klodowska-Duda,Gregorz Opala,Daniel Stompel,Krzysztof Banaszkiewicz,Dorota Bocwinska,Kamila Bojakowska-Jaremek,Malgorzata Dec,Malgorzata Krawczyk,Monika Rudzińska,Elzbieta Szczygiel,Andrzej Szczudlik,Anna Wasielewska,Magdalena Wójcik,Anna Bryl,Anna Ciesielska,Aneta Klimberg,Jerzy T. Marcinkowski,Husam Samara,Justyna Sempolowicz,Anna Gogol,Piotr Janik,Hubert Kwieciński,Zygmunt Jamrozik,Jakub Antczak,Katarzyna Jachinska,Wioletta Krysa,Maryla Rakowicz,Przemyslaw Richter,Rafał Rola,Danuta Ryglewicz,Halina Sienkiewicz-Jarosz,Iwona Stepniak,Anna Sulek,Elzbieta Zdzienicka,Karolina Zieora-Jakutowicz,Joaquim J. Ferreira,Miguel Coelho,Tiago Mendes,Anabela Valadas,Carlos Andrade,Miguel Gago,Carolina Garrett,Maria Rosália Guerra,Carmen Durán Herrera,Patrocinio Moreno Garcia,Miquel Aguilar Barbera,Dolors Badenes Guia,Laura Casas Hernanz,Judit López Catena,Pilar Quiléz Ferrer,Ana Rojo Sebastián,Gemma Tome Carruesco,Jordi Bas,Núria Busquets,Matilde Calopa,Misericordia Floriach Robert,Celia Mareca Viladrich,Jesús Miguel Ruiz Idiago,Antonio Villa Riballo,Esther Cubo,Cecilia Gil Polo,Natividad Mariscal,Perez Jessica Rivadeneyra,Francisco J. Barrero,Blas Morales,María Fenollar,Rocío García-Ramos García,Paloma Ortega,Clara Villanueva,Javier Alegre,Mónica Bascuñana,Juan Garcia Caldentey,Marta Fatás Ventura,Guillermo García Ribas,Justo García de Yébenes,José Luis López-Sendón Moreno,Fernando Alonso Frech,Pedro J. Garcia Ruiz,Asunción Martinez-Descals,Rosa Guerrero,María José Saiz Artiga,Vicenta Sánchez,María Fuensanta Noguera Perea,Lorenza Fortuna,Salvadora Manzanares,Gema Reinante,María Martirio Antequera Torres,Laura Vivancos Moreau,Sonia González González,Luis Menéndez Guisasola,Carlos Salvador,Esther Suaréz San Martín,Inés Legarda Ramirez,Aranzazú Gorospe,Mónica Rodriguez Lopera,Penelope Navas Arques,María José Torres Rodríguez,Barbara Vives Pastor,Itziar Gaston,Maria Dolores Martinez-Jaurrieta,Jose Manuel Garcia Moreno,Carolina Mendez Lucena,Fatima Damas,Hermoso Eva Pacheco Cortegana,José Rafael Chacón Peña,Luis Redondo,Fátima Carrillo,María Teresa Cáceres,Pablo Mir,María José Lama Suarez,Laura Vargas-González,Maria E. Bosca,Francisco Castera Brugada,Juan Andres Burguera,Anabel Campos,Garcia Carmen Peiró Vilaplana,Peter Berglund,Radu Constantinescu,Gunnel Fredlund,Ulrika Høsterey-Ugander,Petra Linnsand,Liselotte Neleborn-Lingefjärd,Magnus Wentzel,Ghada Loutfi,Carina Olofsson,Eva-Lena Stattin,Laila Westman,Birgitta Wikström,Yanik Stebler,Alain Kaelin,Irene Romero,Michael Schüpbach,Sabine Weber Zaugg,Maria Hauer,Roman Gonzenbach,Hans H. Jung,Violeta Mihaylova,Jens Petersen,Roisin Jack,Kirsty Matheson,Zosia Miedzybrodzka,Daniela Rae,Sheila A. Simpson,Fiona Summers,Alexandra Ure,Vivien Vaughan,Shahbana Akhtar,Jenny Crooks,Adrienne Curtis,Jenny de Souza,John Piedad,Hugh Rickards,Jan Wright,Elizabeth Coulthard,Louise Gethin,Beverley Hayward,Kasia Sieradzan,Matthew Armstrong,Roger A. Barker,Deidre O'Keefe,Anna Di Pietro,Kate Fisher,Anna O. G. Goodman,Susan Hill,Ann Kershaw,Sarah L Mason,Nicole S. Paterson,Lucy Raymond,Rachel Swain,Natalie Valle Guzman,Monica Busse,Cynthia Butcher,Catherine Clenaghan,Sarah E. Hunt,Lesley Jones,Una Jones,Hanan Khalil,Michael John Owen,Kathleen Price,Anne Elizabeth Rosser,Maureen Edwards,Carrie Ho,Teresa Hughes,Marie McGill,Pauline Pearson,Mary Porteous,Paul Smith,Peter Brockie,Jillian Foster,Nicola Johns,Sue McKenzie,Jean Rothery,Gareth Thomas,Shona Yates,Liz Burrows,Carol Chu,Amy Fletcher,Deena Gallantrae,Stephanie Hamer,Alison Harding,Stefan Klöppel,Alison Kraus,Fiona Laver,Monica Lewis,Mandy Longthorpe,Ivana Marková,Ashok Raman,Nicola J. Robertson,Mark Silva,Aileen Thomson,Sue Wild,Pam Yardumian,Carole Evans,Deena Gallentrae,Emma Hobson,Stuart Jamieson,Hannah Musgrave,Liz Rowett,Jean Toscano,Colin Bourne,Jackie Clapton,Carole Clayton,Heather Dipple,Dawn Freire-Patino,Janet Grant,Diana Gross,Caroline Hallam,Julia Middleton,Ann Murch,Catherine Thompson,Sundus Alusi,Rhys Davies,Kevin Foy,Emily Gerrans,Louise Pate,Thomasin C. Andrews,Andrew Dougherty,Charlotte Golding,Fred Kavalier,Hana Laing,Alison Lashwood,Dene Robertson,Deborah Ruddy,Alastair Santhouse,Anna Whaite,Stefania Bruno,Karen M. Doherty,Salman Haider,Davina Hensman,Nayana Lahiri,Marianne Novak,Aakta Patel,Elisabeth Rosser,Rachel Taylor,Thomas T. Warner,Edward J. Wild,Natalie Arran,Judith Bek,David Craufurd,Marianne Hare,Liz Howard,Susan Huson,Liz Johnson,Mary Jones,Helen Murphy,Emma Oughton,Lucy Partington-Jones,Dawn Rogers,Andrea C. Sollom,Julie S. Snowden,Cheryl L. Stopford,Jennifer C. Thompson,Iris Trender-Gerhard,Nichola Verstraelen,Leann Westmoreland,Richard J. E. Armstrong,Kathryn Dixon,Andrea H. Németh,Gill Siuda,Ruth Valentine,David J. Harrison,Max Hughes,Andrew Parkinson,Beverley Soltysiak,Oliver Bandmann,Alyson Bradbury,Paul Gill,Helen Fairtlough,Kay Fillingham,Isabella Foustanos,Mbombe Kazoka,Kirsty L O'Donovan,Cat Taylor,Katherine Tidswell,Oliver Quarrell,Puay Ngoh Lau,Emmanul Pica,Louis C. Tan,Peter Holmans,Sarah J. Tabrizi +734 more
TL;DR: A novel measure of disease progression and a genome-wide significant signal on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2 is generated, suggesting this mechanism as an area for future therapeutic investigation.