Publications by authors named "Federica Trucco"

20Publications

Feeding difficulties in children and adolescents with spinal muscular atrophy type 2.

Authors:
Renske I Wadman Ramona De Amicis Chiara Brusa Alberto Battezzati Simona Bertoli Tracey Davis Marion Main Adnan Manzur Chiara Mastella Pinki Munot Nadia Imbrigiotta Lucia Schottlaender Anna Sarkozy Federica Trucco Giovanni Baranello Mariacristina Scoto Francesco Muntoni

Neuromuscul Disord 2020 Dec 19. Epub 2020 Dec 19.

Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, UK; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, UK. Electronic address:

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December 2020

Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study.

Authors:
Federica Trucco Deborah Ridout Mariacristina Scoto Giorgia Coratti Marion L Main Robert Muni Lofra Anna G Mayhew Jacqueline Montes Marika Pane Valeria Sansone Emilio Albamonte Adele D'Amico Enrico Bertini Sonia Messina Claudio Bruno Deepak Parasuraman Anne-Marie Childs Vasantha Gowda Tracey Willis Min Ong Chiara Marini-Bettolo Darryl C De Vivo Basil T Darras John Day Elizabeth A Kichula Oscar H Mayer Aledie A Navas Nazario Richard S Finkel Eugenio Mercuri Francesco Muntoni

Neurology 2020 Oct 16. Epub 2020 Oct 16.

Dubowitz Neuromuscular Centre, UCL GOS Institute of Child Health, London

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October 2020

Inflammation in children with neuromuscular disorders and sleep disordered breathing.

Authors:
Federica Trucco Emma Carruthers Jane C Davies Anita K Simonds Andrew Bush Hui-Leng Tan

Sleep Med 2020 08 9;72:118-121. Epub 2020 Apr 9.

Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK.

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August 2020

Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study.

Authors:
Federica Trucco Joana P Domingos Chee Geap Tay Deborah Ridout Kate Maresh Pinki Munot Anna Sarkozy Stephanie Robb Rosaline Quinlivan Mollie Riley Michael Burch Matthew Fenton Colin Wallis Elaine Chan Francois Abel Adnan Y Manzur Francesco Muntoni

Chest 2020 Oct 7;158(4):1606-1616. Epub 2020 May 7.

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital, London, England; NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, University College London, & Great Ormond Street Hospital Trust, London, England. Electronic address:

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October 2020

Genetic modifiers of respiratory function in Duchenne muscular dystrophy.

Authors:
Luca Bello Grazia D'Angelo Matteo Villa Aurora Fusto Sara Vianello Beatrice Merlo Daniele Sabbatini Andrea Barp Sandra Gandossini Francesca Magri Giacomo P Comi Marina Pedemonte Paola Tacchetti Valentina Lanzillotta Federica Trucco Adele D'Amico Enrico Bertini Guja Astrea Luisa Politano Riccardo Masson Giovanni Baranello Emilio Albamonte Elisa De Mattia Fabrizio Rao Valeria A Sansone Stefano Previtali Sonia Messina Gian Luca Vita Angela Berardinelli Tiziana Mongini Antonella Pini Marika Pane Eugenio Mercuri Andrea Vianello Claudio Bruno Eric P Hoffman Lauren Morgenroth Heather Gordish-Dressman Craig M McDonald Elena Pegoraro

Ann Clin Transl Neurol 2020 05 28;7(5):786-798. Epub 2020 Apr 28.

Department of Neurosciences DNS, University of Padova, Padova, Italy.

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May 2020

The McGill score as a screening test for obstructive sleep disordered breathing in children with co-morbidities.

Authors:
Federica Trucco Mark Rosenthal Andrew Bush Hui-Leng Tan

Sleep Med 2020 04 28;68:173-176. Epub 2019 Dec 28.

Department of Pediatric Respiratory Medicine, Royal Brompton Hospital, London, UK.

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April 2020

Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene.

Authors:
Chiara Fiorillo Maria Rosaria D'Apice Federica Trucco Michela Murdocca Paola Spitalieri Stefania Assereto Serena Baratto Guido Morcaldi Carlo Minetti Federica Sangiuolo Giuseppe Novelli

DNA Cell Biol 2018 Nov 2. Epub 2018 Nov 2.

2 Laboratory of Medical Genetics, Tor Vergata Hospital , Rome, Italy .

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November 2018

Reducing the need for carbon dioxide monitoring in the investigation of paediatric sleep disordered breathing.

Authors:
Federica Trucco Andrew Bush Hui-Leng Tan

Eur Respir J 2018 10 4;52(4). Epub 2018 Oct 4.

Dept of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK.

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October 2018

Sleep disordered breathing and ventilatory support in children with Down syndrome.

Authors:
Federica Trucco Michelle Chatwin Thomas Semple Mark Rosenthal Andrew Bush Hui-Leng Tan

Pediatr Pulmonol 2018 10 10;53(10):1414-1421. Epub 2018 Jul 10.

Department of Pediatric Respiratory Medicine, Royal Brompton Hospital, London, United Kingdom.

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October 2018

Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial.

Authors:
Federica Trucco Marina Pedemonte Fabrizio Racca Raffaele Falsaperla Catia Romano Anette Wenzel Alessia D'Agostino Angela Pistorio Paola Tacchetti Cristina Bella Claudio Bruno Carlo Minetti

J Telemed Telecare 2019 Aug 4;25(7):414-424. Epub 2018 Jun 4.

1 Paediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genoa, Italy.

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August 2019

Detection of early nocturnal hypoventilation in neuromuscular disorders.

Authors:
Federica Trucco Marina Pedemonte Chiara Fiorillo Hui-Leng Tan Annalisa Carlucci Giacomo Brisca Paola Tacchetti Claudio Bruno Carlo Minetti

J Int Med Res 2018 Mar 6;46(3):1153-1161. Epub 2017 Dec 6.

1 Unit of Pediatric Neurology and Muscle Disease, 18572 Istituto Giannina Gaslini , Genova, Italy.

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March 2018

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

Authors:
Chiara Panicucci Chiara Fiorillo Francesca Moro Guja Astrea Giacomo Brisca Federica Trucco Marina Pedemonte Paola Lanteri Lucia Sciarretta Carlo Minetti Filippo M Santorelli Claudio Bruno

JIMD Rep 2018 30;38:23-31. Epub 2017 Apr 30.

Center of Myology and Neurodegenerative Disorders, Department of Neuroscience and Rehabilitation, Istituto Giannina Gaslini, Genoa, Italy.

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April 2017

Respiratory pattern in a FSDH paediatric population.

Authors:
Federica Trucco Marina Pedemonte Chiara Fiorillo Paola Tacchetti Giacomo Brisca Claudio Bruno Carlo Minetti

Respir Med 2017 05 29;126:132. Epub 2017 Mar 29.

Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy; Department of Pediatrics, University of Genova, Italy.

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May 2017

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements.

Authors:
Adele D'Amico Michela Catteruccia Giovanni Baranello Luisa Politano Alessandra Govoni Stefano Carlo Previtali Marika Pane Maria Grazia D'Angelo Claudio Bruno Sonia Messina Federica Ricci Elena Pegoraro Antonella Pini Angela Berardinelli Ksenjia Gorni Roberta Battini Gianluca Vita Federica Trucco Marianna Scutifero Roberta Petillo Paola D'Ambrosio Anna Ardissone Barbara Pasanisi Giuseppe Vita Tiziana Mongini Maurizio Moggio Giacomo Pietro Comi Eugenio Mercuri Enrico Bertini

Neuromuscul Disord 2017 May 14;27(5):447-451. Epub 2017 Feb 14.

Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.

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May 2017

Respiratory pattern in a FSHD pediatric population.

Authors:
Federica Trucco Marina Pedemonte Chiara Fiorillo Paola Tacchetti Giacomo Brisca Claudio Bruno Carlo Minetti

Respir Med 2016 10 22;119:78-80. Epub 2016 Aug 22.

Pediatric Neurology and Muscle Disease Unit, Istituto Giannina Gaslini, Genova, Italy; Department of Pediatrics, University of Genova, Italy.

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October 2016

Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.

Authors:
Riccardo Papa Francesca Madia Domenico Bartolomeo Federica Trucco Marina Pedemonte Monica Traverso Paolo Broda Claudio Bruno Federico Zara Carlo Minetti Chiara Fiorillo

Pediatr Neurol 2016 Feb 26;55:58-63. Epub 2015 Nov 26.

DINOGMI, University of Genoa, Genoa, Italy. Electronic address:

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February 2016

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

Authors:
Roberta Biancheri Eleonora Lamantea Mariasavina Severino Daria Diodato Marina Pedemonte Denise Cassandrini Alexandra Ploederl Federica Trucco Chiara Fiorillo Carlo Minetti Filippo M Santorelli Massimo Zeviani Claudio Bruno

JIMD Rep 2015 9;23:85-9. Epub 2015 Apr 9.

Child Neurology and Psychiatry, Istituto Giannina Gaslini, Genoa, Italy.

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June 2015

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.

Authors:
Giacomo Brisca Chiara Fiorillo Claudia Nesti Federica Trucco Maria Derchi Antonio Andaloro Stefania Assereto Guido Morcaldi Marina Pedemonte Carlo Minetti Filippo M Santorelli Claudio Bruno

Biochem Biophys Res Commun 2015 Mar 11;458(3):601-604. Epub 2015 Feb 11.

Center of Myology and Neurodegenerative Disorders, Istituto Giannina Gaslini, Genova, Italy. Electronic address:

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March 2015

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.

Authors:
Chiara Fiorillo Giacomo Brisca Denise Cassandrini Sara Scapolan Guja Astrea Maura Valle Francesca Scuderi Federica Trucco Andrea Natali Gianmichele Magnano Elisabetta Gazzerro Carlo Minetti Marcello Arca Filippo M Santorelli Claudio Bruno

Biochem Biophys Res Commun 2013 Jan 9;430(1):241-4. Epub 2012 Nov 9.

Molecular Medicine Unit, IRCCS Stella Maris, Pisa, Italy.

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January 2013

Clinical and genetic characterization of Chanarin-Dorfman syndrome.

Authors:
Claudio Bruno Enrico Bertini Maja Di Rocco Denise Cassandrini Giuseppe Ruffa Teresa De Toni Marco Seri Marco Spada Giovanni Li Volti Adele D'Amico Federica Trucco Marcello Arca Carlo Casali Corrado Angelini Salvatore Dimauro Carlo Minetti

Biochem Biophys Res Commun 2008 May 11;369(4):1125-8. Epub 2008 Mar 11.

Muscular and Neurodegenerative Disease Unit, Giannina Gaslini Institute, University of Genova, Genova, Italy.

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May 2008