I
Ilaria Martinelli
Researcher at University of Padua
Publications - 36
Citations - 416
Ilaria Martinelli is an academic researcher from University of Padua. The author has contributed to research in topics: Amyotrophic lateral sclerosis & Medicine. The author has an hindex of 8, co-authored 19 publications receiving 212 citations.
Papers
More filters
Journal ArticleDOI
Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis: Neurofilament Light Chain Levels in Definite Subtypes of Disease.
Alessandra Gaiani,Ilaria Martinelli,Luca Bello,Giorgia Querin,Marco Puthenparampil,S. Ruggero,Elisabetta Toffanin,Annachiara Cagnin,Chiara Briani,Elena Pegoraro,Gianni Sorarù +10 more
TL;DR: The role of NFL as a biomarker in ALS is confirmed, and Elevation in NFL levels in patients with upper motor neuron involvement and FTD might reflect the corticospinal tract degeneration.
Journal ArticleDOI
Neurofilaments in motor neuron disorders: towards promising diagnostic and prognostic biomarkers.
Elisabetta Zucchi,Valentina Bonetto,Gianni Sorarù,Ilaria Martinelli,Piero Parchi,Rocco Liguori,Jessica Mandrioli +6 more
TL;DR: How NFs are impacting research and clinical management in ALS and other MNDs is discussed and how NFs may provide a useful tool for the early enrolment of patients in clinical trials is discussed.
Journal ArticleDOI
Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy
Vittoria Lombardi,G. Querin,Oliver J. Ziff,Luca Zampedri,Ilaria Martinelli,Carolin Heller,Martha S. Foiani,C. Bertolin,Ching-Hua Lu,Bilal Malik,Kezia Allen,Carlo Rinaldi,Henrik Zetterberg,Amanda Heslegrave,Linda Greensmith,Michael G. Hanna,Gianni Sorarù,Andrea Malaspina,Pietro Fratta +18 more
TL;DR: While muscle damage and muscle mass biomarkers are abnormal in SBMA, axonal damage markers are unchanged, highlighting the relevant primary role of skeletal muscle in disease pathogenesis.
Journal ArticleDOI
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Janel O. Johnson,Ruth Chia,Danny E. Miller,Rachel Li,Ravindran Kumaran,Yevgeniya Abramzon,Yevgeniya Abramzon,Nada Alahmady,Nada Alahmady,Alan E. Renton,Simon Topp,J. Raphael Gibbs,Mark R. Cookson,Marya S. Sabir,Clifton L. Dalgard,Claire Troakes,Ashley R. Jones,Aleksey Shatunov,Alfredo Iacoangeli,Ahmad Al Khleifat,Nicola Ticozzi,Vincenzo Silani,Cinzia Gellera,Ian P. Blair,Carol Dobson-Stone,Carol Dobson-Stone,John B.J. Kwok,John B.J. Kwok,Emily Bonkowski,Robin Palvadeau,Pentti J. Tienari,Karen E. Morrison,Pamela J. Shaw,Ammar Al-Chalabi,Ammar Al-Chalabi,Robert H. Brown,Andrea Calvo,Gabriele Mora,Hind Al-Saif,Marc Gotkine,Fawn Leigh,Irene J. Chang,Seth J. Perlman,Ian A. Glass,Anna I. Scott,Anna I. Scott,Christopher Shaw,A. Nazli Basak,John Landers,Adriano Chiò,Thomas O. Crawford,Bradley N. Smith,Bryan J. Traynor,Claudia Fallini,Athina Soragia Gkazi,Emma L. Scotter,K.P. Kenna,Pamela Keagle,Cinzia Tiloca,Caroline Vance,Claudia Colombrita,Andrew King,Viviana Pensato,Barbara Castellotti,Frank Baas,Anneloor L.M.A. ten Asbroek,Diane McKenna-Yasek,Russell L. McLaughlin,Meraida Polak,Seneshaw Asress,Jesús Esteban-Pérez,Zorica Stevic,Sandra D'Alfonso,Letizia Mazzini,Giacomo P. Comi,Roberto Del Bo,Mauro Ceroni,Stella Gagliardi,Giorgia Querin,Cinzia Bertolin,Wouter van Rheenen,Rosa Rademakers,Marka van Blitterswijk,Giuseppe Lauria,Stefano Duga,Stefania Corti,Cristina Cereda,Lucia Corrado,Lucia Corrado,Gianni Sorarù,Kelly L. Williams,Garth A. Nicholson,Claire Leblond-Manry,Guy A. Rouleau,Orla Hardiman,J. H. Veldink,Leonard H. van den Berg,Hardev Pall,Martin R Turner,Kevin Talbot,Franco Taroni,Alberto García-Redondo,Zheyang Wu,Jonathan D. Glass,Antonia Ratti,Adelani Adeleye,Adelani Adeleye,Anthony R. Soltis,Anthony R. Soltis,Camille Alba,Camille Alba,Coralie Viollet,Coralie Viollet,Dagmar Bacikova,Daniel Hupalo,Daniel Hupalo,Gauthaman Sukumar,Gauthaman Sukumar,Harvey B. Pollard,Harvey B. Pollard,Matthew D. Wilkerson,Elisa McGrath Martinez,Sarah Ahmed,Sampath Arepalli,Robert H. Baloh,Robert H. Baloh,Robert Bowser,Christopher B. Brady,Alexis Brice,James Broach,Roy H. Campbell,William Camu,John Cooper-Knock,Jinhui Ding,Carsten Drepper,Vivian E. Drory,Travis L. Dunckley,Travis L. Dunckley,John D. Eicher,Bryce K. England,Faraz Faghri,Eva L. Feldman,Mary Kay Floeter,Pietro Fratta,Joshua T. Geiger,Glenn Gerhard,Summer B. Gibson,John Hardy,Matthew B. Harms,Terry Heiman-Patterson,Dena G. Hernandez,Lilja Jansson,J. Kirby,Neil W. Kowall,Hannu Laaksovirta,Hannu Laaksovirta,Natalie Landeck,Francesco Landi,Isabelle Le Ber,Serge Lumbroso,Daniel J. L. MacGowan,Nicholas J. Maragakis,Kevin Mouzat,Natalie A. Murphy,Liisa Myllykangas,Mike A. Nalls,Richard W. Orrell,Lyle W. Ostrow,Roger Pamphlett,Stuart Pickering-Brown,Erik P. Pioro,Olga Pletnikova,Hannah A. Pliner,Hannah A. Pliner,Stefan M. Pulst,John M. Ravits,Alberto M. Rivera,Wim Robberecht,Ekaterina Rogaeva,Sara Rollinson,Jeffrey D. Rothstein,Sonja W. Scholz,Michael Sendtner,Katie Sidle,Zachary Simmons,Andrew B. Singleton,Nathan Smith,David J. Stone,Juan C. Troncoso,Miko Valori,Philip Van Damme,Vivianna M. Van Deerlin,Ludo Van Den Bosch,Lorne Zinman,Stefania M. Angelocola,Francesco P. Ausiello,Marco Barberis,Ilaria Bartolomei,Stefania Battistini,Enrica Bersano,Giulia Bisogni,Giuseppe Borghero,Maura Brunetti,Corrado Cabona,Fabrizio Canale,Antonio Canosa,Teresa A. Cantisani,Margherita Capasso,Claudia Caponnetto,Patrizio Cardinali,Paola Carrera,Federico Casale,Tiziana Colletti,Francesca Luisa Conforti,Amelia Conte,Elisa Conti,Massimo Corbo,Stefania Cuccu,Eleonora Dalla Bella,Eustachio D’Errico,Giovanni DeMarco,Raffaele Dubbioso,Carlo Ferrarese,Pilar M. Ferraro,Massimo Filippi,Nicola Fini,Gianluca Floris,Giuseppe Fuda,Salvatore Gallone,Giulia Gianferrari,Fabio Giannini,Maurizio Grassano,Lucia Greco,Barbara Iazzolino,Alessandro Introna,Alessandro Introna,Vincenzo La Bella,Serena Lattante,Rocco Liguori,Giancarlo Logroscino,Francesco Logullo,Christian Lunetta,Paola Mandich,Jessica Mandrioli,Umberto Manera,Fiore Manganelli,Giuseppe Marangi,Kalliopi Marinou,Maria Giovanna Marrosu,Ilaria Martinelli,Sonia Messina,Cristina Moglia,Lorena Mosca,Maria Rita Murru,Paola Origone,Carla Passaniti,Cristina Petrelli,Antonio Petrucci,Susanna Pozzi,Maura Pugliatti,Angelo Quattrini,Claudia Ricci,Giulia Riolo,Nilo Riva,Massimo Russo,Mario Sabatelli,Paolina Salamone,Marco Salivetto,Fabrizio Salvi,Marialuisa Santarelli,Luca Sbaiz,Riccardo Sideri,Isabella Laura Simone,Cecilia Simonini,Rossella Spataro,Raffaella Tanel,Gioacchino Tedeschi,Anna Ticca,Antonella Torriello,Stefania Tranquilli,Lucio Tremolizzo,Francesca Trojsi,Rosario Vasta,Veria Vacchiano,Giuseppe Vita,Paolo Volanti,Marcella Zollino,Marcella Zollino,Elisabetta Zucchi +288 more
TL;DR: In this article, three whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation, and three de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients and failure to thrive.
Journal ArticleDOI
Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial.
Christopher Grunseich,Ram R. Miller,Therese Swan,David J. Glass,Mohamed El Mouelhi,Mara Fornaro,Olivier Petricoul,Igor Vostiar,Ronenn Roubenoff,Matthew N. Meriggioli,Angela Kokkinis,Robert D. Guber,Maher S. Budron,John Vissing,Gianni Sorarù,Tahseen Mozaffar,Albert C. Ludolph,John T. Kissel,Kenneth H. Fischbeck,Julia R. Dahlqvist,Nanna Witting,Ilaria Martinelli,Giorgia Querin,Namita Goyal,Tiyonnoh M. Cash,Brian Minton,Angela Rosenbohm,Ulrike Weiland,Patrick Weydt,Sharon Chelnick,Stanley Iyadurai,Wendy C. King +31 more
TL;DR: The intervention was associated with high incidence of immunogenicity and did not improve muscle strength or function, and additional studies might be needed to assess the efficacy of activating the IGF-1 pathway in this disease.