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Antonio Petrucci
Researcher at University of Rome Tor Vergata
Publications - 53
Citations - 1646
Antonio Petrucci is an academic researcher from University of Rome Tor Vergata. The author has contributed to research in topics: Myotonic dystrophy & Medicine. The author has an hindex of 17, co-authored 48 publications receiving 1099 citations. Previous affiliations of Antonio Petrucci include Carlo Besta Neurological Institute.
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Journal ArticleDOI
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Aude Nicolas,Kevin P. Kenna,Alan E. Renton,Alan E. Renton,Nicola Ticozzi,Faraz Faghri,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.A. van der Spek,Hannah A. Pliner,Shankaracharya,Bradley N. Smith,Giuseppe Marangi,Giuseppe Marangi,Simon Topp,Yevgeniya Abramzon,Yevgeniya Abramzon,Athina Soragia Gkazi,John D. Eicher,Aoife Kenna,Francesco Logullo,Isabella Simone,Giancarlo Logroscino,Fabrizio Salvi,Ilaria Bartolomei,Giuseppe Borghero,Maria Rita Murru,Emanuela Costantino,Carla Pani,Roberta Puddu,Carla Caredda,Valeria Piras,Stefania Tranquilli,Stefania Cuccu,Daniela Corongiu,Maurizio Melis,Antonio Milia,Francesco Marrosu,Maria Giovanna Marrosu,Gianluca Floris,Antonino Cannas,Margherita Capasso,Claudia Caponnetto,Gianluigi Mancardi,Paola Origone,Paola Mandich,Francesca Luisa Conforti,Sebastiano Cavallaro,Gabriele Mora,Kalliopi Marinou,Riccardo Sideri,Silvana Penco,Lorena Mosca,Christian Lunetta,Giuseppe Lauria Pinter,Massimo Corbo,Nilo Riva,Paola Carrera,Paolo Volanti,Jessica Mandrioli,Nicola Fini,Antonio Fasano,Lucio Tremolizzo,A Arosio,Carlo Ferrarese,Francesca Trojsi,Gioacchino Tedeschi,Maria Rosaria Monsurrò,Giovanni Piccirillo,Cinzia Femiano,Anna Ticca,Enzo Ortu,Vincenzo La Bella,Rossella Spataro,Tiziana Colletti,Mario Sabatelli,Marcella Zollino,Amelia Conte,Marco Luigetti,Serena Lattante,Marialuisa Santarelli,Antonio Petrucci,Maura Pugliatti,Angelo Pirisi,Leslie D. Parish,Patrizia Occhineri,Fabio Giannini,Stefania Battistini,Claudia Ricci,Michele Benigni,Tea B. Cau,Daniela Loi,Andrea Calvo,Cristina Moglia,Maura Brunetti,Marco Barberis,Gabriella Restagno,Federico Casale,Giuseppe Marrali,Giuseppe Fuda,Irene Ossola,Stefania Cammarosano,Antonio Canosa,Antonio Ilardi,Umberto Manera,Maurizio Grassano,Raffaella Tanel,Fabrizio Pisano,Letizia Mazzini,Sonia Messina,Isabella Laura Simone,Sandra D'Alfonso,Lucia Corrado,Luigi Ferrucci,Matthew B. Harms,David Goldstein,Neil A. Shneider,Stephen A. Goutman,Zachary Simmons,Timothy M. Miller,Siddharthan Chandran,Suvankar Pal,George Manousakis,Stanley H. Appel,Ericka Simpson,Leo H. Wang,Robert H. Baloh,Summer B. Gibson,Richard Bedlack,David Lacomis,Dhruv Sareen,Alexander Sherman,Lucie Bruijn,Michelle Penny,Cristiane de Araújo Martins Moreno,Sitharthan Kamalakaran,Andrew S. Allen,Stanley Appel,Richard S. Bedlack,Braden E. Boone,Robert H. Brown,John P. Carulli,Alessandra Chesi,Wendy K. Chung,Elizabeth T. Cirulli,Gregory M. Cooper,Julien Couthouis,Aaron G. Day-Williams,Patrick A. Dion,Aaron D. Gitler,Jonathan D. Glass,Yujun Han,Timothy D. Harris,Sebastian D. Hayes,Angela Jones,Jonathan Keebler,Brian J. Krueger,Brittany N. Lasseigne,Shawn Levy,Yi-Fan Lu,Tom Maniatis,Diane McKenna-Yasek,Richard M. Myers,Slavé Petrovski,Stefan M. Pulst,Alya R. Raphael,John M. Ravits,Zhong Ren,Guy A. Rouleau,Peter C. Sapp,Katherine B. Sims,John F. Staropoli,Lindsay L. Waite,Quanli Wang,Jack R. Wimbish,Winnie Xin,Hemali Phatnani,Justin Y. Kwan,James R. Broach,Ximena Arcila-Londono,Edward B. Lee,Vivianna M. Van Deerlin,Ernest Fraenkel,Lyle W. Ostrow,Frank Baas,Noah Zaitlen,James D. Berry,Andrea Malaspina,Pietro Fratta,Gregory A. Cox,Leslie M. Thompson,Steve Finkbeiner,Efthimios Dardiotis,Eran Hornstein,Daniel MacGowan,Terry Heiman-Patterson,Molly G. Hammell,Nikolaos A. Patsopoulos,Joshua Dubnau,Avindra Nath,Rajeeva Musunuri,Uday S. Evani,Avinash Abhyankar,Michael C. Zody,Julia A. Kaye,Steven Finkbeiner,Stacia K. Wyman,Alexander LeNail,Leandro Lima,Jeffrey D. Rothstein,Clive N. Svendsen,Jenny Van Eyk,Nicholas J. Maragakis,Stephen J. Kolb,Merit Cudkowicz,Emily G. Baxi,Stacia Wyman,Alex LeNail,Jennifer E. Van Eyk,Michael Benatar,J. Paul Taylor,Gang Wu,Evadnie Rampersaud,Joanne Wuu,Rosa Rademakers,Stephan Züchner,Rebecca Schüle,Jacob L. McCauley,Sumaira Hussain,Anne Cooley,Marielle Wallace,Christine Clayman,Richard J. Barohn,Jeffrey Statland,John Ravits,Andrea Swenson,Carlayne E. Jackson,Jaya Trivedi,Shaida Khan,Jonathan L. Katz,Liberty Jenkins,Ted M. Burns,Kelly G. Gwathmey,James Caress,Corey T. McMillan,Lauren Elman,Erik P. Pioro,Jeannine M. Heckmann,Yuen T. So,David Walk,Samuel Maiser,Jinghui Zhang,Vincenzo Silani,C. Gellera,Antonia Ratti,Franco Taroni,Giuseppe Lauria,Federico Verde,Isabella Fogh,Cinzia Tiloca,Giacomo P. Comi,Gianni Sorarù,Cristina Cereda,Fabiola De Marchi,Stefania Corti,Mauro Ceroni,Gabriele Siciliano,Massimiliano Filosto,Maurizio Inghilleri,Silvia Peverelli,Claudia Colombrita,Barbara Poletti,Luca Maderna,Roberto Del Bo,Stella Gagliardi,Giorgia Querin,Cinzia Bertolin,Viviana Pensato,Barbara Castellotti,William Camu,Kevin Mouzat,Serge Lumbroso,Philippe Corcia,Vincent Meininger,Gérard Besson,Emmeline Lagrange,Pierre Clavelou,Nathalie Guy,Philippe Couratier,Patrick Vourc'h,Veronique Danel,Emilien Bernard,Gwendal Lemasson,Hannu Laaksovirta,Liisa Myllykangas,Lilja Jansson,Miko Valori,John Ealing,Hisham Hamdalla,Sara Rollinson,Stuart Pickering-Brown,Richard W. Orrell,Katie C. L. Sidle,John Hardy,Andrew B. Singleton,Janel O. Johnson,Sampath Arepalli,Meraida Polak,Seneshaw Asress,Safa Al-Sarraj,Andrew T. King,Claire Troakes,Caroline Vance,Jacqueline de Belleroche,Anneloor L.M.A. 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,Robert Bowser,Daniel J. L. MacGowan,Janine Kirby,Erik P. Pioro,Roger Pamphlett,James Broach,Glenn S. Gerhard,Travis Dunckley,Christopher B. Brady,Christopher B. Brady,Neil W. Kowall,Juan C. Troncoso,Isabelle Le Ber,Terry Heiman-Patterson,Terry Heiman-Patterson,Freya Kamel,Ludo Van Den Bosch,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,Karen E. Morrison,A. Nazli Basak,Jesus S. Mora,Vivian E. Drory,Pamela J. Shaw,Martin R Turner,Kevin Talbot,Orla Hardiman,Kelly L. Williams,Jennifer A. Fifita,Garth A. Nicholson,Garth A. Nicholson,Ian P. Blair,Jesús Esteban-Pérez,Alberto García-Redondo,Ammar Al-Chalabi,Ahmad Al Kheifat,Peter M. Andersen,Adriano Chiò,Jonathan Cooper-Knock,Annelot M. Dekker,Vivian E. Drory,Alberto Garcia Redondo,Marc Gotkine,Winston Hide,Alfredo Iacoangeli,Jonathan Glass,K.P. Kenna,Matthew C. Kiernan,John E. Landers,Russell McLaughlin,Jonathan Mill,Miguel Mitne Neto,Mattieu Moisse,Jesus S. Mora Pardina,Karen E. Morrison,Stephen Newhouse,Susana Pinto,Sara L. Pulit,Wim Robberecht,Pamela Shaw,Chris Shaw,William Sproviero,Gijs H.P. Tazelaar,Philip Van Damme,Leonard H. van den Berg,Rick van der Spek,Kristel R van Eijk,Michael A van Es,Joke van Vugt,J. H. Veldink,Mayana Zatz,Denis C. Bauer,Natalie A. Twine,Ekaterina Rogaeva,Lorne Zinman,Johnathan Cooper-Knock,Alexis Brice,Stephen A. Goutman,Eva L. Feldman,Summer Gibson,Albert C. Ludolph,Peter M Andersen,Jochen H. Weishaupt,John Q. Trojanowski,Robert H. Brown,Leonard H. van den Berg,Jan H. Veldink,David J. Stone,Pentti J. Tienari,Christopher Shaw,Bryan J. Traynor,Bryan J. Traynor,John Landers +435 more
TL;DR: Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia and Charcot-Marie-Tooth type 2.
Journal ArticleDOI
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial
Silvia Romano,Giulia Coarelli,Christian Marcotulli,Luca Leonardi,Francesca Piccolo,Maria Spadaro,Marina Frontali,Michela Ferraldeschi,Maria Chiara Vulpiani,Federica Ponzelli,Marco Salvetti,Francesco Orzi,Antonio Petrucci,Nicola Vanacore,Carlo Casali,Giovanni Ristori +15 more
TL;DR: The findings lend support to the idea that riluzole could be a treatment for cerebellar ataxia, and longer studies and disease-specific trials are needed to confirm whether these findings can be applied in clinical practice.
Journal ArticleDOI
Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signalling.
Elisa Gregianin,Giorgia Pallafacchina,Sofia Zanin,Valeria Crippa,Paola Rusmini,Angelo Poletti,Mingyan Fang,Zhouxuan Li,Laura Diano,Antonio Petrucci,Ludovico Lispi,Tiziana Cavallaro,Gian Maria Fabrizi,Maria Muglia,Francesca Boaretto,Andrea Vettori,Rosario Rizzuto,Maria Luisa Mostacciuolo,Giovanni Vazza +18 more
TL;DR: The involvement of SIGMAR1 in motor neuron maintenance and survival is definitively demonstrated by correlating, for the first time in the Caucasian population, mutations in this gene to distal motor dysfunction and highlighting the chaperone activity of sigma-1R at the MAM as a critical aspect in dHMN pathology.
Journal ArticleDOI
Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes
Daniele Cazzato,Marco Castori,Raffaella Lombardi,Francesca Caravello,Eleonora Dalla Bella,Antonio Petrucci,Paola Grammatico,Chiara Dordoni,Marina Colombi,Giuseppe Lauria +9 more
TL;DR: All patients showed a decrease of IENFD consistent with the diagnosis of small fiber neuropathy (SFN), regardless of the EDS type, suggesting SFN is a common feature in adults with EDS.
Journal ArticleDOI
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients
Chiara Fiorillo,Guja Astrea,Marco Savarese,Denise Cassandrini,Giacomo Brisca,Federica Trucco,Marina Pedemonte,Rosanna Trovato,Lucia Ruggiero,Liliana Vercelli,Adele D'Amico,Giorgio Tasca,Marika Pane,Marina Fanin,Luca Bello,Paolo Broda,Olimpia Musumeci,Carmelo Rodolico,Sonia Messina,Gian Luca Vita,Maria Sframeli,Sara Gibertini,Lucia Morandi,Marina Mora,Lorenzo Maggi,Antonio Petrucci,Roberto Massa,Marina Grandis,Antonio Toscano,Elena Pegoraro,Eugenio Mercuri,Enrico Bertini,Tiziana Mongini,Lucio Santoro,Vincenzo Nigro,Carlo Minetti,Filippo M. Santorelli,Claudio Bruno +37 more
TL;DR: This work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder.