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Chiara Fiorillo
Researcher at University of Genoa
Publications - 106
Citations - 2255
Chiara Fiorillo is an academic researcher from University of Genoa. The author has contributed to research in topics: Medicine & Myopathy. The author has an hindex of 25, co-authored 87 publications receiving 1697 citations. Previous affiliations of Chiara Fiorillo include Istituto Giannina Gaslini & Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico.
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Journal ArticleDOI
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score.
Costanza Lamperti,G. Fabbri,Liliana Vercelli,Roberto D'Amico,Roberto Frusciante,Emanuela Bonifazi,Chiara Fiorillo,C. Borsato,Michelangelo Cao,M. Servida,Francesca Greco,Rita Di Leo,Leda Volpi,Claudia Manzoli,P. Cudia,Ebe Pastorello,Leopoldo Ricciardi,Gabriele Siciliano,Giuliana Galluzzi,Carmelo Rodolico,Lucio Santoro,Giuliano Tomelleri,Corrado Angelini,Enzo Ricci,Laura Palmucci,Maurizio Moggio,Rossella Tupler,Rossella Tupler +27 more
TL;DR: A simple, reliable, easily used tool to define the clinical expression of FSHD is developed and longitudinal studies will assess its sensitivity and utility in measuring changes for widespread use.
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Sudden re-opening of collapsed transverse sinuses and longstanding clinical remission after a single lumbar puncture in a case of idiopathic intracranial hypertension. Pathogenetic implications
R. De Simone,E. Marano,Chiara Fiorillo,Francesco Briganti,F. Di Salle,A. Volpe,Vincenzo Bonavita +6 more
TL;DR: The case of a young woman diagnosed with IIH with papilloedema and narrowing of transverse sinuses is reported, in which lowering of intracranial pressure by a single 20 ml cerebrospinal fluid (CSF) resulted in a strong dimensional increase of the transversal sinuses.
Journal ArticleDOI
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
Marco Savarese,Giuseppina Di Fruscio,Annalaura Torella,Chiara Fiorillo,Francesca Magri,Marina Fanin,Lucia Ruggiero,Giulia Ricci,Guja Astrea,L. Passamano,Alessandra Ruggieri,Dario Ronchi,Giorgio Tasca,Adele D'Amico,Sandra Janssens,Olimpia Farina,Margherita Mutarelli,Veer Singh Marwah,Arcomaria Garofalo,Teresa Giugliano,Simone Sanpaolo,Francesca Del Vecchio Blanco,Gaia Esposito,Giulio Piluso,Paola D'Ambrosio,Roberta Petillo,Olimpia Musumeci,Carmelo Rodolico,Sonia Messina,Anni Evilä,Peter Hackman,Massimiliano Filosto,Giuseppe Di Iorio,Gabriele Siciliano,Marina Mora,Lorenzo Maggi,Carlo Minetti,Sabrina Sacconi,Lucio Santoro,Kathleen Claes,Liliana Vercelli,Tiziana Mongini,Enzo Ricci,Francesca Gualandi,Rossella Tupler,Jan De Bleecker,Bjarne Udd,Antonio Toscano,Maurizio Moggio,Elena Pegoraro,Enrico Bertini,Eugenio Mercuri,Corrado Angelini,Filippo M. Santorelli,Luisa Politano,Claudio Bruno,Giacomo P. Comi,Vincenzo Nigro +57 more
TL;DR: A large DNA study of patients with undiagnosed myopathy is an example of the ongoing revolution in molecular diagnostics, highlighting the advantages in using NGS as a first-tier approach for heterogeneous genetic conditions.
Journal ArticleDOI
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration
Vandana Shashi,Maria M. Magiera,Maria M. Magiera,Dennis Klein,Maha S. Zaki,Kelly Schoch,Sabine Rudnik-Schöneborn,A. Norman,Osorio Abath Neto,Marina Dusl,Xidi Yuan,Luca Bartesaghi,Patrizia De Marco,Ahmed Alfares,Ronit Marom,Ronit Marom,Stefan T. Arold,Francisco J. Guzmán-Vega,Loren D M Pena,Loren D M Pena,Edward C. Smith,Maja Steinlin,Mohamed Oe Babiker,Payam Mohassel,A. Reghan Foley,Sandra Donkervoort,Rupleen Kaur,Partha S. Ghosh,Valentina Stanley,Damir Musaev,Caroline Nava,Cyril Mignot,Boris Keren,Marcello Scala,Elisa Tassano,Paolo Picco,Paola Doneda,Chiara Fiorillo,Chiara Fiorillo,Mahmoud Y. Issa,Ali H. Alassiri,Ahmed Alahmad,Amanda Gerard,Amanda Gerard,Pengfei Liu,Pengfei Liu,Yaping Yang,Yaping Yang,Birgit Ertl-Wagner,Peter G. Kranz,Ingrid M. Wentzensen,Rolf Stucka,Nicholas Stong,Andrew S. Allen,David Goldstein,Benedikt Schoser,Kai Michael Rösler,Majid Alfadhel,Valeria Capra,Roman Chrast,Tim M Strom,Erik-Jan Kamsteeg,Carsten G. Bönnemann,Joseph G. Gleeson,Rudolf Martini,Carsten Janke,Jan Senderek,Jan Senderek +67 more
TL;DR: This work found biallelic rare and damaging variants in the gene encoding CCP1 in 13 individuals with infantile‐onset neurodegeneration and confirmed the absence of functional CCP1 along with dysregulated tubulin polyglutamylation, entailing this post‐translational modification as a potential target for drug development for neuro degenerative disorders.
Journal ArticleDOI
Novel Dynein DYNC1H1 Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development
Chiara Fiorillo,Francesca Moro,Julie Yi,Sarah J. Weil,Giacomo Brisca,Guja Astrea,Mariasavina Severino,Alessandro Romano,Roberta Battini,Andrea Rossi,Carlo Minetti,Claudio Bruno,Filippo M. Santorelli,Richard B. Vallee +13 more
TL;DR: The results expand the set of pathological mutations in DYNC1H1, reinforce the role of cytoplasmic dynein in disorders of neuronal migration, and provide evidence for a syndrome including spinal nerve degeneration and brain developmental problems.