M
Marcella Neri
Researcher at University of Ferrara
Publications - 61
Citations - 1479
Marcella Neri is an academic researcher from University of Ferrara. The author has contributed to research in topics: Missense mutation & Gene. The author has an hindex of 21, co-authored 54 publications receiving 1268 citations. Previous affiliations of Marcella Neri include Hammersmith Hospital & Anna University.
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Journal ArticleDOI
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human.
Marcella Neri,Marcella Neri,Silvia Torelli,Susan C. Brown,Isabella Ugo,Patrizia Sabatelli,Luciano Merlini,Pietro Spitali,Paola Rimessi,Francesca Gualandi,Caroline Sewry,Caroline Sewry,Alessandra Ferlini,Alessandra Ferlini,Francesco Muntoni +14 more
TL;DR: It was found that dystrophin levels comprised between 29% and 57% were sufficient to avoid muscle weakness in these XLDC families, and this information will be of help for the development of therapeutic approaches aimed at restoring dystrophic levels sufficient to prevent the muscle pathology in DMD.
Journal ArticleDOI
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia
Marco Fichera,M. Lo Giudice,Michele Falco,Maurizio Sturnio,S. Amata,Olga Calabrese,Stefania Bigoni,Elisa Calzolari,Marcella Neri +8 more
TL;DR: A four-generation pedigree segregating an autosomal dominant phenotype for HSP and showing a linkage to the SPG10 locus, coding for Kinesin family member 5A is reported.
Journal ArticleDOI
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Lucia Micale,Bartolomeo Augello,Claudia Maffeo,Angelo Selicorni,Federica Zucchetti,Carmela Fusco,Pasquelena De Nittis,Maria Teresa Pellico,Barbara Mandriani,Barbara Mandriani,Rita Fischetto,Loredana Boccone,Margherita Silengo,Elisa Biamino,Chiara Perria,Stefano Sotgiu,Gigliola Serra,Elisabetta Lapi,Marcella Neri,Alessandra Ferlini,Maria Luigia Cavaliere,Pietro Chiurazzi,Matteo Della Monica,Gioacchino Scarano,Francesca Faravelli,Paola Ferrari,Laura Mazzanti,Alba Pilotta,Maria Grazia Patricelli,Maria Francesca Bedeschi,Francesco Benedicenti,Paolo Prontera,Benedetta Toschi,Leonardo Salviati,Daniela Melis,Eliana Di Battista,Alessandra Vancini,Livia Garavelli,Leopoldo Zelante,Giuseppe Merla,Giuseppe Merla +40 more
TL;DR: The authors' experimental data showed that both KMT2D and KDM6A nonsense mutations displayed high levels of readthrough in response to gentamicin treatment, paving the way to further studies aimed at eventually treating some Kabuki patients with read through inducers.
Journal ArticleDOI
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking
Roland F.R. Schindler,C. Scotton,Jianguo Zhang,Chiara Passarelli,Beatriz Ortiz-Bonnin,Subreena Simrick,Thorsten Schwerte,Kar Lai Poon,Mingyan Fang,Susanne Rinné,Alexander Froese,Viacheslav O. Nikolaev,Christiane Grunert,Thomas Müller,Giorgio Tasca,Padmini Sarathchandra,Fabrizio Drago,Bruno Dallapiccola,Claudio Rapezzi,Eloisa Arbustini,Francesca Romana Di Raimo,Marcella Neri,Rita Selvatici,Francesca Gualandi,Fabiana Fattori,Antonello Pietrangelo,Wenyan Li,Hui Jiang,Xun Xu,Enrico Bertini,Niels Decher,Jun Wang,Thomas Brand,Alessandra Ferlini +33 more
TL;DR: POPDC1 is identified as a disease gene causing a very rare autosomal recessive cardiac arrhythmia and limb-girdle muscular dystrophy, expanding the genetic causes of this heterogeneous group of inherited rare diseases.
Journal ArticleDOI
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse.
Paola Rimessi,Patrizia Sabatelli,M. Fabris,Paola Braghetta,Elena Bassi,Pietro Spitali,Gaetano Vattemi,Giuliano Tomelleri,Lara Mari,Daniela Perrone,Alessandro Medici,Marcella Neri,Matteo Bovolenta,E. Martoni,Nadir M. Maraldi,Francesca Gualandi,Luciano Merlini,Marco Ballestri,Luisa Tondelli,Katia Sparnacci,Paolo Bonaldo,Antonella Caputo,Michele Laus,Alessandra Ferlini +23 more
TL;DR: T1 nanoparticles have the capacity to bind and convoy AONs in body-wide muscle tissues and to reduce the dose required for dystrophin rescue, and are highlighted by immunofluorescence and electron microscopy studies.