Matteo Garibaldi

Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores.

Authors:

Matteo Garibaldi Fabiana Fattori Elena Maria Pennisi Gioia Merlonghi Laura Fionda Fiammetta Vanoli Luca Leonardi Elisabetta Bucci Stefania Morino Andrea Micaloni Tommaso Tartaglione Bas Uijterwijk Martijn Zierikzee Coen Ottenheijm Enrico Silvio Bertini Antonella Stoppacciaro Salvatore Raffa Marco Salvetti Giovanni Antonini

Neuromuscul Disord 2020 Nov 30. Epub 2020 Nov 30.

Neuromuscular and Rare Disease Centre, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant'Andrea Hospital, Rome, Italy.

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November 2020

Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.

Authors:

Anna Sidorina Giulio Catesini Stefano Levi Mortera Valeria Marzano Lorenza Putignani Sara Boenzi Roberta Taurisano Matteo Garibaldi Federica Deodato Carlo Dionisi-Vici

J Inherit Metab Dis 2020 Dec 15. Epub 2020 Dec 15.

Division of Metabolism, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

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December 2020

Gender effect on cardiac involvement in myotonic dystrophy type 1.

Authors:

Matteo Garibaldi Antonio Lauletta Elisabetta Bucci Laura Fionda Fiammetta Vanoli Luca Leonardi Girolamo Alfieri Laura Tufano Stefania Morino Gioia Merlonghi Paolo Anibaldi Marco Salvetti Marco Testa Giovanni Antonini

Eur J Neurol 2020 Dec 6. Epub 2020 Dec 6.

Neuromuscular and Rare Disease Center, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University, Sant'Andrea Hospital, Rome, Italy.

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December 2020

Nerve ultrasonography findings as possible pitfall in differential diagnosis between hereditary transthyretin amyloidosis with polyneuropathy and chronic inflammatory demyelinating polyneuropathy.

Authors:

Luca Leonardi Fiammetta Vanoli Laura Fionda Simona Loreti Matteo Garibaldi Stefania Morino Marco Salvetti Domitilla Russo Beatrice Musumeci Giovanni Antonini

Neurol Sci 2020 Dec 16;41(12):3775-3778. Epub 2020 Sep 16.

Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.

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December 2020

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

Authors:

Jorge Alonso-Pérez Lidia González-Quereda Luca Bello Michela Guglieri Volker Straub Pia Gallano Claudio Semplicini Elena Pegoraro Vittoria Zangaro Andrés Nascimento Carlos Ortez Giacomo Pietro Comi Leroy Ten Dam Marianne De Visser A J van der Kooi Cristina Garrido Manuela Santos Ulrike Schara Andrea Gangfuß Nicoline Løkken Jesper Helbo Storgaard John Vissing Benedikt Schoser Gabriele Dekomien Bjarne Udd Johanna Palmio Adele D'Amico Luisa Politano Vincenzo Nigro Claudio Bruno Chiara Panicucci Anna Sarkozy Omar Abdel-Mannan Alicia Alonso-Jimenez Kristl G Claeys David Gomez-Andrés Francina Munell Laura Costa-Comellas Jana Haberlová Marie Rohlenová De Vos Elke Jan L De Bleecker Cristina Dominguez-González Giorgio Tasca Claudia Weiss Nicolas Deconinck Roberto Fernández-Torrón Adolfo López de Munain Ana Camacho-Salas Béla Melegh Kinga Hadzsiev Lea Leonardis Blaz Koritnik Matteo Garibaldi Juan Carlos de Leon-Hernández Edoardo Malfatti Arturo Fraga-Bau Isabelle Richard Isabel Illa Jordi Díaz-Manera

Brain 2020 Sep;143(9):2696-2708

Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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September 2020

Telemedicine for neuromuscular disorders during the COVID-19 outbreak.

Authors:

Matteo Garibaldi Gabriele Siciliano Giovanni Antonini

J Neurol 2020 Jul 10. Epub 2020 Jul 10.

Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Neuromuscular and Rare Disease Centre, Sant'Andrea Hospital, SAPIENZA University of Rome, Via di Grottarossa 1035-1039, 00189, Rome, Italy.

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July 2020

Creatine Kinase and Progression Rate in Amyotrophic Lateral Sclerosis.

Authors:

Marco Ceccanti Valeria Pozzilli Chiara Cambieri Laura Libonati Emanuela Onesti Vittorio Frasca Ilenia Fiorini Antonio Petrucci Matteo Garibaldi Eleonora Palma Caterina Bendotti Paola Fabbrizio Maria Chiara Trolese Giovanni Nardo Maurizio Inghilleri

Cells 2020 05 8;9(5). Epub 2020 May 8.

Rare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy.

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May 2020

Immune checkpoint inhibitors (ICIs)-related ocular myositis.

Authors:

Matteo Garibaldi Fabio Calabrò Gioia Merlonghi Silvia Pugliese Marco Ceccanti Lara Cristiano Tommaso Tartaglione Antonio Petrucci

Neuromuscul Disord 2020 05 26;30(5):420-423. Epub 2020 Feb 26.

Department of Neuroscience, San Camillo-Forlanini Hospital, Rome, Italy.

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May 2020

Muscle involvement in myasthenia gravis: Expanding the clinical spectrum of Myasthenia-Myositis association from a large cohort of patients.

Authors:

Matteo Garibaldi Laura Fionda Fiammetta Vanoli Luca Leonardi Simona Loreti Elisabetta Bucci Antonella Di Pasquale Stefania Morino Elisa Vizzaccaro Gioia Merlonghi Marco Ceccanti Matteo Lucchini Massimiliano Mirabella Francesca Andreetta Elena Maria Pennisi Antonio Petrucci Marco Salvetti Giovanni Antonini

Autoimmun Rev 2020 Apr 14;19(4):102498. Epub 2020 Feb 14.

Neuromuscular and Rare Disease Center, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University, Sant'Andrea Hospital, Rome, Italy.

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April 2020

MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients.

J Neurol 2020 Apr 27;267(4):898-912. Epub 2019 Nov 27.

Pediatric Neurology, Università Cattolica del Sacro Cuore, Largo Gemelli 8, 00168, Rome, Italy.

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April 2020

A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy.

Authors:

Celia Cordero-Sanchez Beatrice Riva Simone Reano Nausicaa Clemente Ivan Zaggia Federico A Ruffinatti Alberto Potenzieri Tracey Pirali Salvatore Raffa Sabina Sangaletti Mario P Colombo Alessandra Bertoni Matteo Garibaldi Nicoletta Filigheddu Armando A Genazzani

Dis Model Mech 2019 12 3;13(2). Epub 2019 Dec 3.

Department of Pharmaceutical Sciences, University of Piemonte Orientale, Via Bovio 6, Novara 28100, Italy

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December 2019

Nerve high-resolution ultrasonography in peripheral nerve injuries associated with supracondylar humeral fractures in children.

Authors:

Luca Leonardi Simona Loreti Antonella Di Pasquale Stefania Morino Laura Fionda Fiammetta Vanoli Matteo Garibaldi Giovanni Antonini

J Clin Neurosci 2020 Jan 4;71:119-123. Epub 2019 Sep 4.

Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Sant'Andrea Hospital, Rome, Italy.

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January 2020

Expanding the spectrum of genes responsible for hereditary motor neuropathies.

J Neurol Neurosurg Psychiatry 2019 10 5;90(10):1171-1179. Epub 2019 Jun 5.

Institute of Experimental Neurology (InSpe), Division of Neuroscience, IRCCS Ospedale San Raffaele, Milano, Italy

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October 2019

Reply to the letter entitled "Predictors of respiratory impairment in patients with myotonic dystrophy type 1".

J Neurol Sci 2019 08 24;403:166-167. Epub 2019 May 24.

Department of Neurology, Fondazione Policlinico Universitario A. Gemelli IRCSS, Largo A. Gemelli 8, 00168 Rome, Italy; Institute of Neurology, Catholic University of the Sacred Heart, Largo F. Vito 1, 00168 Rome, Italy. Electronic address:

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August 2019

Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study.

J Neurol Sci 2019 Apr 7;399:118-124. Epub 2019 Feb 7.

Department of Neurology, Fondazione Policlinico Universitario A. Gemelli IRCSS, Largo A. Gemelli 8, 00168 Rome, Italy; Institute of Neurology, Catholic University of the Sacred Heart, Largo F. Vito 1, 00168 Rome, Italy. Electronic address:

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April 2019

Thymomatous myasthenia gravis: novel association with HLA DQB1*05:01 and strengthened evidence of high clinical and serological severity.

Authors:

Roberto Massa Giulia Greco Manuela Testi Emanuele Rastelli Chiara Terracciano Erica Frezza Matteo Garibaldi Girolama A Marfia Franco Locatelli Nicola B Mercuri Eugenio Pompeo Giovanni Antonini Marco Andreani

J Neurol 2019 Apr 11;266(4):982-989. Epub 2019 Feb 11.

Laboratorio d'Immunogenetica dei Trapianti, Dipartimento di Oncoematologia e Terapia Cellulare e Genica, IRCCS OPBG, Rome, Italy.

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April 2019

Nerve high-resolution ultrasonography in tangier disease.

Authors:

Antonella Di Pasquale Luca Leonardi Laura Fionda Fiammetta Vanoli Matteo Garibaldi Maurizio Inghilleri Marco Ceccanti Chiara Cambieri Emanuela Onesti Giovanni Antonini

Muscle Nerve 2019 05 7;59(5):587-590. Epub 2019 Feb 7.

Department of Neuroscience, Mental Health and Sensory Organs, Sapienza University of Rome, Sant'Andrea Hospital, Rome, Italy.

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May 2019

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Authors:

Matteo Garibaldi John Rendu Julie Brocard Emmanuelle Lacene Julien Fauré Guy Brochier Maud Beuvin Clemence Labasse Angeline Madelaine Edoardo Malfatti Jorge Alfredo Bevilacqua Fabiana Lubieniecki Soledad Monges Ana Lia Taratuto Jocelyn Laporte Isabelle Marty Giovanni Antonini Norma Beatriz Romero

Acta Neuropathol Commun 2019 01 5;7(1). Epub 2019 Jan 5.

Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.

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January 2019

Italian recommendations for diagnosis and management of congenital myasthenic syndromes.

Authors:

Lorenzo Maggi Pia Bernasconi Adele D'Amico Raffaella Brugnoni Chiara Fiorillo Matteo Garibaldi Guja Astrea Claudio Bruno Filippo Maria Santorelli Rocco Liguori Giovanni Antonini Amelia Evoli Enrico Bertini Carmelo Rodolico Renato Mantegazza

Neurol Sci 2019 Mar 15;40(3):457-468. Epub 2018 Dec 15.

Neurology IV - Neuroimmunology and Neuromuscular Diseases Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Via Celoria 11, 20133, Milan, Italy.

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March 2019

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Authors:

Alicia Alonso-Jimenez Rosemarie H M J M Kroon Aida Alejaldre-Monforte Claudia Nuñez-Peralta Corinne G C Horlings Baziel G M van Engelen Montse Olivé Laura González Enric Verges-Gil Carmen Paradas Celedonio Márquez Matteo Garibaldi Pía Gallano Maria José Rodriguez Lidia Gonzalez-Quereda Cristina Dominguez Gonzalez John Vissing Freja Fornander Anne-Sofie Vibæk Eisum Tania García-Sobrino Julio Pardo Roberto García-Figueiras Nuria Muelas Juan Jesús Vilchez Solange Kapetanovic Giorgio Tasca Mauro Monforte Enzo Ricci María Teresa Gomez Jorge Alfredo Bevilacqua Jorge Diaz-Jara Ivonne Ingrid Zamorano Robert Yves Carlier Pascal Laforet Ana Pelayo-Negro Alba Ramos-Fransi Amaia Martínez Chiara Marini-Bettolo Volker Straub Gerardo Gutiérrez Tanya Stojkovic María Asunción Martín Germán Morís Roberto Fernández-Torrón Adolfo Lopez De Munaín Elena Cortes-Vicente Luis Querol Ricardo Rojas-García Isabel Illa Jordi Diaz-Manera

J Neurol Neurosurg Psychiatry 2019 05 8;90(5):576-585. Epub 2018 Dec 8.

Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain

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May 2019

Widening the phenotypical spectrum of EGR2-related CMT: Unusual phenotype for R409W mutation.

Authors:

Luca Leonardi Matteo Garibaldi Laura Fionda Fiammetta Vanoli Simona Loreti Stefania Morino Giovanni Antonini

Clin Neurophysiol 2019 01 22;130(1):93-94. Epub 2018 Nov 22.

Neuromuscular Diseases Centre, Department of Neurosciences Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant'Andrea Hospital, Rome, Italy.

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January 2019

Lipid Myopathies.

Authors:

Elena Maria Pennisi Matteo Garibaldi Giovanni Antonini

J Clin Med 2018 Nov 23;7(12). Epub 2018 Nov 23.

Unit of Neuromuscular Diseases, Department of Neurology, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant' Andrea Hospital, 00189 Rome, Italy.

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November 2018

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.

Authors:

Matteo Garibaldi Fabiana Fattori Carlo Augusto Bortolotti Guy Brochier Clemence Labasse Margherita Verardo Emilia Servian-Morilla Lara Gibellini Marcello Pinti Giulia Di Rocco Salvatore Raffa Elena Maria Pennisi Enrico Silvio Bertini Carmen Paradas Norma Beatriz Romero Giovanni Antonini

Acta Neuropathol Commun 2018 09 13;6(1):94. Epub 2018 Sep 13.

Unit of Neuromuscular Diseases, Department of Neurology, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant'Andrea Hospital, Rome, Italy.

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September 2018

Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome.

Authors:

Dimitri Renard Guillaume Taieb Matteo Garibaldi Andre Maues De Paula Rafaelle Bernard Nadira Lagha Gael Cristofari Catherine Vovan Charlène Chaix Nicolas Lévy Philippe Khau Van Kien Sabrina Sacconi

Am J Med Genet A 2018 08 28;176(8):1760-1763. Epub 2018 Jul 28.

Peripheral Nervous System, Muscle and ALS Department, Nice University Hospital, Université Côte d'Azur, Nice, France.

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August 2018

A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre.

Authors:

Elisabetta Bucci Marco Testa Loretta Licchelli Alessandra Frattari Nadia Attalla El Halabieh Erica Gabriele Giulia Pignatelli Tiziana De Santis Laura Fionda Fiammetta Vanoli Stefania Morino Matteo Garibaldi Antonella Di Pasquale Nicola Vanacore Annalisa Botta Giovanni Antonini

J Neurol 2018 Apr 10;265(4):885-895. Epub 2018 Feb 10.

Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), School of Medicine and Psychology, Sapienza University of Rome, Sant'Andrea Hospital, Via di Grottarossa 1035, 00189, Rome, Italy.

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April 2018

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).

Authors:

Matteo Garibaldi Giorgio Tasca Jordi Diaz-Manera Pierfancesco Ottaviani Francesco Laschena Donatella Pantoli Simonetta Gerevini Chiara Fiorillo Lorenzo Maggi Elisabetta Tasca Adele D'Amico Olimpia Musumeci Antonio Toscano Claudio Bruno Roberto Massa Corrado Angelini Enrico Bertini Giovanni Antonini Elena Maria Pennisi

J Neurol 2017 07;264(7):1343-1344

Department of Neurology, San Filippo Neri Hospital, Rome, Italy.

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July 2017

Muscle MRI in neutral lipid storage disease (NLSD).

Authors:

Matteo Garibaldi Giorgio Tasca Jordi Diaz-Manera Pierfancesco Ottaviani Francesco Laschena Donatella Pantoli Simonetta Gerevini Chiara Fiorillo Lorenzo Maggi Elisabetta Tasca Adele D'Amico Olimpia Musumeci Antonio Toscano Claudio Bruno Roberto Massa Corrado Angelini Enrico Bertini Giovanni Antonini Elena Maria Pennisi

J Neurol 2017 Jul 13;264(7):1334-1342. Epub 2017 May 13.

Department of Neurology, San Filippo Neri Hospital, Rome, Italy.

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July 2017

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients.

Orphanet J Rare Dis 2017 05 12;12(1):90. Epub 2017 May 12.

IRCCS Fondazione Ospedale S. Camillo, Venice, Italy.

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May 2017

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

Authors:

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

J Clin Invest 2017 Apr 6;127(4):1531-1545. Epub 2017 Mar 6.

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April 2017

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

Authors:

Xavière Lornage Edoardo Malfatti Chrystel Chéraud Raphaël Schneider Valérie Biancalana Jean-Marie Cuisset Matteo Garibaldi Bruno Eymard Michel Fardeau Anne Boland Jean-François Deleuze Julie Thompson Robert-Yves Carlier Johann Böhm Norma B Romero Jocelyn Laporte

Ann Neurol 2017 Mar 20;81(3):467-473. Epub 2017 Mar 20.

Institute of Genetics and Molecular and Cellular Biology, Illkirch, France.

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March 2017

Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD).

Authors:

Matteo Garibaldi Sabrina Sacconi Giovanni Antonini Claude Desnuelle

J Neurol 2017 Mar 24;264(3):589-590. Epub 2017 Jan 24.

Neuromuscular Diseases Centre, Department of Clinical Neurosciences, University Hospital of Nice (CHU), Nice, France.

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March 2017

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

Authors:

Matteo Garibaldi Johann Böhm Fabiana Fattori Catherine Koch Cecilia Surace Pierfrancesco Ottaviani Francesco Laschena Jocelyn Laporte Enrico Bertini Giovanni Antonini Norma B Romero

J Neuromuscul Dis 2016 03;3(1):111-114

Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.

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March 2016

Teaching Video NeuroImages: The Beevor sign in late-onset Pompe disease.

Authors:

Matteo Garibaldi Jordi Diaz-Manera Eduard Gallardo Giovanni Antonini

Neurology 2016 06;86(24):e250-1

From the Unit of Neuromuscular Diseases (M.G., G.A.), Department of Neurology, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, "Sapienza" University of Rome, Italy; Laboratori de Malalties Neuromusculars (J.D.-M., E.G.), Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona (UAB), Barcelona; and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (J.D.-M., E.G.), Madrid, Spain.

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June 2016

Dropped-head in recessive oculopharyngeal muscular dystrophy.

Authors:

Matteo Garibaldi Elena Maria Pennisi Mirella Bruttini Veronica Bizzarri Elisabetta Bucci Stefania Morino Caterina Talerico Antonella Stoppacciaro Alessandra Renieri Giovanni Antonini

Neuromuscul Disord 2015 Nov 7;25(11):869-72. Epub 2015 Sep 7.

Unit of Neuromuscular Diseases, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.

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November 2015

The increase of pericyte population in human neuromuscular disorders supports their role in muscle regeneration in vivo.

Authors:

Jordi Díaz-Manera Eduard Gallardo Noemi de Luna Miquel Navas Laura Soria Matteo Garibaldi Ricard Rojas-García Rossana Tonlorenzi Giulio Cossu Isabel Illa

J Pathol 2012 Dec 5;228(4):544-53. Epub 2012 Oct 5.

Neuromuscular Disorders Unit, Neurology Department, Universitat Autònoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.

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December 2012

Erectile dysfunction in myotonic dystrophy type 1 (DM1).

Authors:

Giovanni Antonini Alessandro Clemenzi Elisabetta Bucci Stefania Morino Matteo Garibaldi Micaela Sepe-Monti Franco Giubilei Giuseppe Novelli

J Neurol 2009 Apr 27;256(4):657-9. Epub 2009 Apr 27.

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April 2009

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