Works matching AU Ricci, Enzo

Results: 66

Heart rate variability in facioscapulohumeral muscular dystrophy.

Published in:

Functional Neurology, 2010, v. 25, n. 4, p. 211

By:

Marca, Giacomo Della;
Frusciante, Roberto;
Scatena, Michele;
Dittoni, Serena;
Testani, Elisa;
Vollono, Catello;
Losurdo, Anna;
Scarano, Emanuele;
Colicchio, Salvatore;
Farina, Benedetto;
Gnoni, Valentina;
Mazza, Salvatore;
Tonali, Pietro A.;
Ricci, Enzo

Publication type:

Article

A versatile, compact system for X-ray fluorescence analysis.

Published in:

XRS: X-ray Spectrometry, 1981, v. 10, n. 1, p. 12, doi. 10.1002/xrs.1300100105

By:

Ricci, Enzo;
Dunn, H. W.

Publication type:

Article

Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes.

Published in:

Proteomics, 2006, v. 6, n. 19, p. 5303, doi. 10.1002/pmic.200600056

By:

Barbara Celegato;
Daniele Capitanio;
Mario Pescatori;
Chiara Romualdi;
Beniamina Pacchioni;
Stefano Cagnin;
Agnese Viganò;
Luca Colantoni;
Shajna Begum;
Enzo Ricci;
Robin Wait;
Gerolamo Lanfranchi;
Cecilia Gelfi

Publication type:

Article

Comparison of protein expression in human deltoideus and vastus lateralis muscles using two-dimensional gel electrophoresis.

Published in:

Proteomics, 2005, v. 5, n. 10, p. 2577, doi. 10.1002/pmic.200401183

By:

Daniele Capitanio;
Agnese Viganò;
Enzo Ricci;
Paolo Cerretelli;
Robin Wait;
Cecilia Gelfi

Publication type:

Article

Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis.

Published in:

Neurological Sciences, 2011, v. 32, n. 5, p. 841, doi. 10.1007/s10072-011-0657-6

By:

Sancricca, Cristina;
Mora, Marina;
Ricci, Enzo;
Tonali, Pietro;
Mantegazza, Renato;
Mirabella, Massimiliano

Publication type:

Article

Mixed connective tissue disease presenting as a peculiar myositis with poor muscle regeneration.

Published in:

Neurological Sciences, 2011, v. 32, n. 1, p. 171, doi. 10.1007/s10072-010-0423-1

By:

Tasca, Giorgio;
Mirabella, Massimiliano;
Berrettini, Alfredo;
Monforte, Mauro;
Tonali, Pietro;
Ricci, Enzo

Publication type:

Article

Cerebellar degeneration and ocular myasthenia gravis in a patient with recurring ovarian carcinoma.

Published in:

Neurological Sciences, 2010, v. 31, n. 1, p. 79, doi. 10.1007/s10072-009-0154-3

By:

Caliandro, Pietro;
Luigetti, Marco;
Ricci, Enzo;
Mirabella, Massimiliano;
Tonali, Pietro Attilio;
Padua, Luca

Publication type:

Article

Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping.

Published in:

JAMA Neurology, 2014, v. 71, n. 1, p. 32, doi. 10.1001/jamaneurol.2013.4908

By:

Anthony, Karen;
Arechavala-Gomeza, Virginia;
Ricotti, Valeria;
Torelli, Silvia;
Feng, Lucy;
Janghra, Narinder;
Tasca, Giorgio;
Guglieri, Michela;
Barresi, Rita;
Armaroli, Annarita;
Ferlini, Alessandra;
Bushby, Katherine;
Straub, Volker;
Ricci, Enzo;
Sewry, Caroline;
Morgan, Jennifer;
Muntoni, Francesco

Publication type:

Article

D4Z4 Methylation Levels Combined with a Machine Learning Pipeline Highlight Single CpG Sites as Discriminating Biomarkers for FSHD Patients.

Published in:

Cells (2073-4409), 2022, v. 11, n. 24, p. 4114, doi. 10.3390/cells11244114

By:

Caputo, Valerio;
Megalizzi, Domenica;
Fabrizio, Carlo;
Termine, Andrea;
Colantoni, Luca;
Bax, Cristina;
Gimenez, Juliette;
Monforte, Mauro;
Tasca, Giorgio;
Ricci, Enzo;
Caltagirone, Carlo;
Giardina, Emiliano;
Cascella, Raffaella;
Strafella, Claudia

Publication type:

Article

Redox Homeostasis in Muscular Dystrophies.

Published in:

Cells (2073-4409), 2021, v. 10, n. 6, p. 1364, doi. 10.3390/cells10061364

By:

Mosca, Nicola;
Petrillo, Sara;
Bortolani, Sara;
Monforte, Mauro;
Ricci, Enzo;
Piemonte, Fiorella;
Tasca, Giorgio

Publication type:

Article

Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.

Published in:

Clinical Genetics, 2024, v. 105, n. 3, p. 335, doi. 10.1111/cge.14466

By:

Strafella, Claudia;
Colantoni, Luca;
Megalizzi, Domenica;
Trastulli, Giulia;
Piorgo, Emma Proietti;
Primiano, Guido;
Sancricca, Cristina;
Ricci, Giulia;
Siciliano, Gabriele;
Caltagirone, Carlo;
Filosto, Massimiliano;
Tasca, Giorgio;
Ricci, Enzo;
Cascella, Raffaella;
Giardina, Emiliano

Publication type:

Article

Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 974, doi. 10.1038/ejhg.2011.70

By:

Cacciottolo, Mafalda;
Numitone, Gelsomina;
Aurino, Stefania;
Caserta, Imma Rosaria;
Fanin, Marina;
Politano, Luisa;
Minetti, Carlo;
Ricci, Enzo;
Piluso, Giulio;
Angelini, Corrado;
Nigro, Vincenzo

Publication type:

Article

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

Published in:

Nature Genetics, 2012, v. 44, n. 4, p. 450, doi. 10.1038/ng.1103

By:

Sarparanta, Jaakko;
Jonson, Per Harald;
Golzio, Christelle;
Sandell, Satu;
Luque, Helena;
Screen, Mark;
McDonald, Kristin;
Stajich, Jeffrey M;
Mahjneh, Ibrahim;
Vihola, Anna;
Raheem, Olayinka;
Penttilä, Sini;
Lehtinen, Sara;
Huovinen, Sanna;
Palmio, Johanna;
Tasca, Giorgio;
Ricci, Enzo;
Hackman, Peter;
Hauser, Michael;
Katsanis, Nicholas

Publication type:

Article

Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity.

Published in:

2017

By:

Teveroni, Emanuela;
Pellegrino, Marsha;
Sacconi, Sabrina;
Calandra, Patrizia;
Cascino, Isabella;
Farioli-Vecchioli, Stefano;
Puma, Angela;
Garibaldi, Matteo;
Morosetti, Roberta;
Tasca, Giorgio;
Ricci, Enzo;
Pietro Trevisan, Carlo;
Galluzzi, Giuliana;
Pontecorvi, Alfredo;
Crescenzi, Marco;
Deidda, Giancarlo;
Moretti, Fabiola;
Trevisan, Carlo Pietro

Publication type:

journal article

To the Editor.

Published in:

2017

By:

Monforte, Mauro;
Servidei, Serenella;
Ricci, Enzo;
Tasca, Giorgio

Publication type:

Letter to the Editor

Tracking muscle wasting and disease activity in facioscapulohumeral muscular dystrophy by qualitative longitudinal imaging.

Published in:

Journal of Cachexia, Sarcopenia & Muscle, 2019, v. 10, n. 6, p. 1258, doi. 10.1002/jcsm.12473

By:

Monforte, Mauro;
Laschena, Francesco;
Ottaviani, Pierfrancesco;
Bagnato, Maria Rosaria;
Pichiecchio, Anna;
Tasca, Giorgio;
Ricci, Enzo

Publication type:

Article

Cardiac features of Emery–Dreifuss muscular dystrophy caused by lamin A/C gene mutations.

Published in:

European Heart Journal, 2003, v. 24, n. 24, p. 2227, doi. 10.1016/j.ehj.2003.09.020

By:

Sanna, Tommaso;
Dello Russo, Antonio;
Toniolo, Daniela;
Vytopil, Michal;
Pelargonio, Gemma;
De Martino, Giuseppe;
Ricci, Enzo;
Silvestri, Gabriella;
Giglio, Vincenzo;
Messano, Loredana;
Zachara, Elisabetta;
Bellocci, Fulvio

Publication type:

Article

Muscle diffusion tensor imaging in facioscapulohumeral muscular dystrophy.

Published in:

Muscle & Nerve, 2024, v. 70, n. 2, p. 248, doi. 10.1002/mus.28179

By:

Barzaghi, Leonardo;
Paoletti, Matteo;
Monforte, Mauro;
Bortolani, Sara;
Bonizzoni, Chiara;
Thorsten, Feiweier;
Bergsland, Niels;
Santini, Francesco;
Deligianni, Xeni;
Tasca, Giorgio;
Ballante, Elena;
Figini, Silvia;
Ricci, Enzo;
Pichiecchio, Anna

Publication type:

Article

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.

Published in:

2017

By:

Magri, Francesca;
Nigro, Vincenzo;
Angelini, Corrado;
Mongini, Tiziana;
Mora, Marina;
Moroni, Isabella;
Toscano, Antonio;
D'angelo, Maria Grazia;
Tomelleri, Giuliano;
Siciliano, Gabriele;
Ricci, Giulia;
Bruno, Claudio;
Corti, Stefania;
Musumeci, Olimpia;
Tasca, Giorgio;
Ricci, Enzo;
Monforte, Mauro;
Sciacco, Monica;
Fiorillo, Chiara;
Gandossini, Sandra

Publication type:

journal article

Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis.

Published in:

2015

By:

Tasca, Giorgio;
Monforte, Mauro;
De Fino, Chiara;
Kley, Rudolf A.;
Ricci, Enzo;
Mirabella, Massimiliano

Publication type:

journal article

Proteomics of Muscle Microdialysates Identifies Potential Circulating Biomarkers in Facioscapulohumeral Muscular Dystrophy.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 1, p. 290, doi. 10.3390/ijms22010290

By:

Corasolla Carregari, Victor;
Monforte, Mauro;
Di Maio, Giuseppe;
Pieroni, Luisa;
Urbani, Andrea;
Ricci, Enzo;
Tasca, Giorgio

Publication type:

Article

Diagnostic magnetic resonance imaging biomarkers for facioscapulohumeral muscular dystrophy identified by machine learning.

Published in:

Journal of Neurology, 2022, v. 269, n. 4, p. 2055, doi. 10.1007/s00415-021-10786-1

By:

Monforte, Mauro;
Bortolani, Sara;
Torchia, Eleonora;
Cristiano, Lara;
Laschena, Francesco;
Tartaglione, Tommaso;
Ricci, Enzo;
Tasca, Giorgio

Publication type:

Article

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

Published in:

Journal of Neurology, 2020, v. 267, n. 1, p. 45, doi. 10.1007/s00415-019-09539-y

By:

Barp, Andrea;
Laforet, Pascal;
Bello, Luca;
Tasca, Giorgio;
Vissing, John;
Monforte, Mauro;
Ricci, Enzo;
Choumert, Ariane;
Stojkovic, Tanya;
Malfatti, Edoardo;
Pegoraro, Elena;
Semplicini, Claudio;
Stramare, Roberto;
Scheidegger, Olivier;
Haberlova, Jana;
Straub, Volker;
Marini-Bettolo, Chiara;
Løkken, Nicoline;
Diaz-Manera, Jordi;
Urtizberea, Jon A.

Publication type:

Article

Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.

Published in:

Journal of Neurology, 2018, v. 265, n. 3, p. 542, doi. 10.1007/s00415-018-8741-y

By:

Monforte, Mauro;
Primiano, Guido;
Silvestri, Gabriella;
Mirabella, Massimiliano;
Luigetti, Marco;
Cuccagna, Cristina;
Ricci, Enzo;
Servidei, Serenella;
Tasca, Giorgio

Publication type:

Article

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.

Published in:

2016

By:

Tasca, Giorgio;
Fattori, Fabiana;
Monforte, Mauro;
Hedberg-Oldfors, Carola;
Sabatelli, Mario;
Udd, Bjarne;
Boldrini, Renata;
Bertini, Enrico;
Ricci, Enzo;
Oldfors, Anders

Publication type:

Letter

Muscle imaging findings in GNE myopathy.

Published in:

Journal of Neurology, 2012, v. 259, n. 7, p. 1358, doi. 10.1007/s00415-011-6357-6

By:

Tasca, Giorgio;
Ricci, Enzo;
Monforte, Mauro;
Laschena, Francesco;
Ottaviani, Pierfrancesco;
Rodolico, Carmelo;
Barca, Emanuele;
Silvestri, Gabriella;
Iannaccone, Elisabetta;
Mirabella, Massimiliano;
Broccolini, Aldobrando

Publication type:

Article

Hospital admissions from the emergency department of adult patients affected by myopathies.

Published in:

European Journal of Neurology, 2024, v. 31, n. 5, p. 1, doi. 10.1111/ene.16214

By:

Monforte, Mauro;
Torchia, Eleonora;
Bortolani, Sara;
Ravera, Beatrice;
Ricci, Enzo;
Silvestri, Gabriella;
Servidei, Serenella;
Primiano, Guido;
Mirabella, Massimiliano;
Sabatelli, Mario;
Mercuri, Eugenio;
Franceschi, Francesco;
Calabresi, Paolo;
Covino, Marcello;
Tasca, Giorgio

Publication type:

Article

Technology outcome measures in neuromuscular disorders: A systematic review.

Published in:

European Journal of Neurology, 2022, v. 29, n. 4, p. 1266, doi. 10.1111/ene.15235

By:

Bortolani, Sara;
Brusa, Chiara;
Rolle, Enrica;
Monforte, Mauro;
De Arcangelis, Valeria;
Ricci, Enzo;
Mongini, Tiziana Enrica;
Tasca, Giorgio

Publication type:

Article

Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials.

Published in:

European Journal of Neurology, 2022, v. 29, n. 3, p. 843, doi. 10.1111/ene.15174

By:

Garibaldi, Matteo;
Nicoletti, Tommaso;
Bucci, Elisabetta;
Fionda, Laura;
Leonardi, Luca;
Morino, Stefania;
Tufano, Laura;
Alfieri, Girolamo;
Lauletta, Antonio;
Merlonghi, Gioia;
Perna, Alessia;
Rossi, Salvatore;
Ricci, Enzo;
Alonso Perez, Jorge;
Tartaglione, Tommaso;
Petrucci, Antonio;
Pennisi, Elena Maria;
Salvetti, Marco;
Cutter, Gary;
Díaz‐Manera, Jordi

Publication type:

Article

Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.

Published in:

Annals of Neurology, 2005, v. 58, n. 4, p. 569

By:

Petra G. M. Van Overveld;
Leo Enthoven;
Enzo Ricci;
Monica Rossi;
Luciano Felicetti;
Marc Jeanpierre;
Sara T. Winokur;
Rune R. Frants;
George W. Padberg;
Silvère M. Van Der Maarel

Publication type:

Article

Muscle fibrosis as a prognostic biomarker in facioscapulohumeral muscular dystrophy: a retrospective cohort study.

Published in:

Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01660-4

By:

Ragozzino, Elvira;
Bortolani, Sara;
Di Pietro, Lorena;
Papait, Andrea;
Parolini, Ornella;
Monforte, Mauro;
Tasca, Giorgio;
Ricci, Enzo

Publication type:

Article

Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD.

Published in:

Frontiers in Genetics, 2023, p. 01, doi. 10.3389/fgene.2023.1235589

By:

Strafella, Claudia;
Caputo, Valerio;
Bortolani, Sara;
Torchia, Eleonora;
Megalizzi, Domenica;
Trastulli, Giulia;
Monforte, Mauro;
Colantoni, Luca;
Caltagirone, Carlo;
Ricci, Enzo;
Tasca, Giorgio;
Cascella, Raffaella;
Giardina, Emiliano

Publication type:

Article

Alternative splicing alterations of Ca<sup>2+</sup> handling genes are associated with Ca<sup>2+</sup> signal dysregulation in myotonic dystrophy type 1 ( DM1) and type 2 ( DM2) myotubes.

Published in:

Neuropathology & Applied Neurobiology, 2014, v. 40, n. 4, p. 464, doi. 10.1111/nan.12076

By:

Santoro, Massimo;
Piacentini, Roberto;
Masciullo, Marcella;
Bianchi, Maria Laura Ester;
Modoni, Anna;
Podda, Maria Vittoria;
Ricci, Enzo;
Silvestri, Gabriella;
Grassi, Claudio

Publication type:

Article

Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3‐year follow‐up.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 355, doi. 10.1007/s10545-010-9186-3

By:

Masciullo, Marcella;
Santoro, Massimo;
Modoni, Anna;
Ricci, Enzo;
Guitton, Jerome;
Tonali, Pietro;
Silvestri, Gabriella

Publication type:

Article

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.

Published in:

Human Mutation, 2004, v. 23, n. 6, p. 632, doi. 10.1002/humu.9252

By:

Broccolini, Aldobrando;
Ricci, Enzo;
Cassandrini, Denise;
Gliubizzi, Carla;
Bruno, Claudio;
Tonoli, Emmanuel;
Silvestri, Gabriella;
Pescatori, Mario;
Rodolico, Carmelo;
Sinicropi, Stefano;
Servidei, Serenella;
Zara, Federico;
Minetti, Carlo;
Tonali, Pietro A.;
Mirabella, Massimiliano

Publication type:

Article

CD8 T Cells in Facioscapulohumeral Muscular Dystrophy Patients with Inflammatory Features at Muscle MRI.

Published in:

Journal of Clinical Immunology, 2011, v. 31, n. 2, p. 155, doi. 10.1007/s10875-010-9474-6

By:

Frisullo, Giovanni;
Frusciante, Roberto;
Nociti, Viviana;
Tasca, Giorgio;
Renna, Rosaria;
Iorio, Raffaele;
Patanella, Agata;
Iannaccone, Elisabetta;
Marti, Alessandro;
Rossi, Monica;
Bianco, Assunta;
Monforte, Mauro;
Tonali, Pietro;
Mirabella, Massimiliano;
Batocchi, Anna;
Ricci, Enzo

Publication type:

Article

Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas.

Published in:

Sleep & Breathing, 2011, v. 15, n. 1, p. 99, doi. 10.1007/s11325-010-0330-y

By:

Marca, Giacomo Della;
Pantanali, Francesca;
Frusciante, Roberto;
Scarano, Emanuele;
Cianfoni, Alessandro;
Calò, Lea;
Dittoni, Serena;
Vollono, Catello;
Losurdo, Anna;
Testani, Elisa;
Colicchio, Salvatore;
Gnoni, Valentina;
Iannaccone, Elisabetta;
Farina, Benedetto;
Pirronti, Tommaso;
Tonali, Pietro A.;
Ricci, Enzo

Publication type:

Article

Cephalometric findings in facioscapulohumeral muscular dystrophy patients with obstructive sleep apneas.

Published in:

Sleep & Breathing, 2011, v. 15, n. 1, p. 99, doi. 10.1007/s11325-010-0330-y

By:

Della Marca, Giacomo;
Pantanali, Francesca;
Frusciante, Roberto;
Scarano, Emanuele;
Cianfoni, Alessandro;
Calò, Lea;
Dittoni, Serena;
Vollono, Catello;
Losurdo, Anna;
Testani, Elisa;
Colicchio, Salvatore;
Gnoni, Valentina;
Iannaccone, Elisabetta;
Farina, Benedetto;
Pirronti, Tommaso;
Tonali, Pietro A.;
Ricci, Enzo

Publication type:

Article

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures.

Published in:

Acta Neuropathologica, 2013, v. 125, n. 1, p. 169, doi. 10.1007/s00401-012-1049-6

By:

Tasca, Giorgio;
Fattori, Fabiana;
Ricci, Enzo;
Monforte, Mauro;
Rizzo, Valentina;
Mercuri, Eugenio;
Bertini, Enrico;
Silvestri, Gabriella

Publication type:

Article

Critères de jugement pour les essais cliniques dans les maladies neuromusculaires.

Published in:

Médecine Sciences, 2018, v. 34, p. 49, doi. 10.1051/medsci/201834s216

By:

Boussaïd, Ghilas;
Vuillerot, Carole;
Domingos, Joana Pisco;
Dany, Antoine;
Ricci, Enzo;
Servais, Laurent;
Boyer, François Constant

Publication type:

Article

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 12, p. 3544, doi. 10.1093/brain/awr291

By:

Anthony, Karen;
Cirak, Sebahattin;
Torelli, Silvia;
Tasca, Giorgio;
Feng, Lucy;
Arechavala-Gomeza, Virginia;
Armaroli, Annarita;
Guglieri, Michela;
Straathof, Chiara S.;
Verschuuren, Jan J.;
Aartsma-Rus, Annemieke;
Helderman-van den Enden, Paula;
Bushby, Katherine;
Straub, Volker;
Sewry, Caroline;
Ferlini, Alessandra;
Ricci, Enzo;
Morgan, Jennifer E.;
Muntoni, Francesco

Publication type:

Article

Magnetic resonance imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: Pattern refinement and implications for clinical trials.

Published in:

2016

By:

Tasca, Giorgio;
Monforte, Mauro;
Ottaviani, Pierfrancesco;
Pelliccioni, Marco;
Frusciante, Roberto;
Laschena, Francesco;
Ricci, Enzo

Publication type:

journal article

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine.

Published in:

Annals of Neurology, 2010, v. 67, n. 2, p. 201, doi. 10.1002/ana.21846

By:

Mercuri, Eugenio;
Clements, Emma;
Offiah, Amaka;
Pichiecchio, Anna;
Vasco, Gessica;
Bianco, Flaviana;
Berardinelli, Angela;
Manzur, Adnan;
Pane, Marika;
Messina, Sonia;
Gualandi, Francesca;
Ricci, Enzo;
Rutherford, Mary;
Muntoni, Francesco

Publication type:

Article

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.

Published in:

FASEB Journal, 2007, v. 21, n. 4, p. 1210, doi. 10.1096/fj.06-7285com

By:

Pescatori, Mario;
Broccolini, Aldobrando;
Minetti, Carlo;
Bertini, Enrico;
Bruno, Claudio;
D'amico, Adele;
Bernardini, Camilla;
Mirabela, Massimiliano;
Silvestri, Gabriella;
Giglio, Vincenzo;
Modoni, Anna;
Pedemonte, Marina;
Tasca, Giorgio;
Galluzzi, Giuliana;
Mercuri, Eugenio;
Tonali, Pietro A.;
Ricci, Enzo

Publication type:

Article

Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle.

Published in:

Journal of Neurochemistry, 2008, v. 105, n. 3, p. 971, doi. 10.1111/j.1471-4159.2007.05208.x

By:

Broccolini, Aldobrando;
Gidaro, Teresa;
De Cristofaro, Raimondo;
Morosetti, Roberta;
Gliubizzi, Carla;
Ricci, Enzo;
Tonali, Pietro A.;
Mirabella, Massimiliano

Publication type:

Article

Neprilysin participates in skeletal muscle regeneration and is accumulated in abnormal muscle fibres of inclusion body myositis.

Published in:

Journal of Neurochemistry, 2006, v. 96, n. 3, p. 777, doi. 10.1111/j.1471-4159.2005.03584.x

By:

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Ricci, Enzo;
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Article

The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure.

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BMC Medical Genetics, 2007, v. 8, p. 8, doi. 10.1186/1471-2350-8-8

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Rossi, Monica;
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Tonali, Pietro A.;
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Article

Deep learning for automatic segmentation of thigh and leg muscles.

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MAGMA: Magnetic Resonance Materials in Physics, Biology & Medicine, 2022, v. 35, n. 3, p. 467, doi. 10.1007/s10334-021-00967-4

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Agosti, Abramo;
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Colelli, Giulia;
Savini, Giovanni;
Muzic, Shaun I.;
Santini, Francesco;
Deligianni, Xeni;
Diamanti, Luca;
Monforte, Mauro;
Tasca, Giorgio;
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Article

Artificial Intelligence for Evaluation of Retinal Vasculopathy in Facioscapulohumeral Dystrophy Using OCT Angiography: A Case Series.

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2023

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Maceroni, Martina;
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Ricci, Enzo;
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Minnella, Angelo Maria

Publication type:

Case Study

Fast Open-Source Toolkit for Water T2 Mapping in the Presence of Fat From Multi-Echo Spin-Echo Acquisitions for Muscle MRI.

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Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.630387

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Santini, Francesco;
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Weigel, Matthias;
de Sousa, Paulo Loureiro;
Bieri, Oliver;
Monforte, Mauro;
Ricci, Enzo;
Tasca, Giorgio;
Pichiecchio, Anna;
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Article