• 4197 Citations
  • 36 h-Index
20002019
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Research Output 2000 2019

  • 4197 Citations
  • 36 h-Index
  • 205 Article
  • 1 Conference contribution
2019
1 Citation (Scopus)

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 1 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

Verrigni, D., Di Nottia, M., Ardissone, A., Baruffini, E., Nasca, A., Legati, A., Bellacchio, E., Fagiolari, G., Martinelli, D., Fusco, L., Battaglia, D., Trani, G., Versienti, G., Marchet, S., Torraco, A., Rizza, T., Verardo, M., D'Amico, A., Diodato, D., Moroni, I. & 7 others, Lamperti, C., Petrini, S., Moggio, M., Goffrini, P., Ghezzi, D., Carrozzo, R. & Bertini, E., May 2019, In : Human Mutation. 40, 5, p. 601-618 18 p.

Research output: Contribution to journalArticle

Dynamin I
Mitochondria
Muscles
Peroxisomes
Organelles

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

on behalf on the International DMD group, Aug 1 2019, In : PLoS One. 14, 7, p. e0220714

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons
ivabradine
Cardiomyopathies
Duchenne Muscular Dystrophy
Dilated Cardiomyopathy
Heart Rate

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

on behalf on the International DMD group, 2019, In : PLoS One. 14, 6, p. e0218683

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
Natural History
natural history
exons

X-linked myotubular myopathy: A prospective international natural history study

Annoussamy, M., Lilien, C., Gidaro, T., Gargaun, E., Chê, V., Schara, U., Gangfuß, A., D'Amico, A., Dowling, J. J., Darras, B. T., Daron, A., Hernandez, A., de Lattre, C., Arnal, J-M., Mayer, M., Cuisset, J-M., Vuillerot, C., Fontaine, S., Bellance, R., Biancalana, V. & 4 others, Buj-Bello, A., Hogrel, J-Y., Landy, H. & Servais, L., Apr 16 2019, In : Neurology. 92, 16, p. e1852-e1867

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Natural History
Phenotype
Ventilation
Dependovirus

An observational study of functional abilities in infants, children, and adults with type 1 SMA

Italian EAP working Group, Aug 21 2018, In : Neurology. 91, 8, p. e696-e703 8 p.

Research output: Contribution to journalArticle

Observational Studies
Tracheostomy
Phenotype
Spinal Muscular Atrophies of Childhood
Noninvasive Ventilation
Genetic Association Studies
Cross-Sectional Studies
Dystroglycans
Mutation
Congenital Myasthenic Syndromes

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement

Dabaj, I., Carlier, R. Y., Gómez-Andrés, D., Neto, O. A., Bertini, E., D'amico, A., Fattori, F., PéRéon, Y., Castiglioni, C., Rodillo, E., Catteruccia, M., Guimarães, J. B., Oliveira, A. S. B., Reed, U. C., Mesrob, L., Lechner, D., Boland, A., Deleuze, J-F., Malfatti, E., Bonnemann, C. & 6 others, Laporte, J., Romero, N., Felter, A., Quijano-Roy, S., Moreno, C. A. M. & Zanoteli, E., Aug 2018, In : Muscle and Nerve. 58, 2, p. 224-234 11 p.

Research output: Contribution to journalArticle

Muscular Diseases
Muscles
Mutation
Mosaicism
Missense Mutation

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

Giugliano, T., Savarese, M., Garofalo, A., Picillo, E., Fiorillo, C., D'Amico, A., Maggi, L., Ruggiero, L., Vercelli, L., Magri, F., Fattori, F., Torella, A., Ergoli, M., Rubegni, A., Fanin, M., Musumeci, O., Bleecker, J. D., Peverelli, L., Moggio, M., Mercuri, E. & 13 others, Toscano, A., Mora, M., Santoro, L., Mongini, T., Bertini, E., Bruno, C., Minetti, C., Comi, G. P., Santorelli, F. M., Angelini, C., Politano, L., Piluso, G. & Nigro, V., Oct 26 2018, In : Genes. 9, 11

Research output: Contribution to journalArticle

Genes
Muscles
Dystrophin
Comparative Genomic Hybridization
Muscular Diseases
1 Citation (Scopus)

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., 2018, In : Clinical Genetics. 93, 6, p. 1234-1239

Research output: Contribution to journalArticle

Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., Jun 2018, In : Clinical Genetics. 93, 6, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation

Expanding the histopathological spectrum of CFL2-related myopathies

Fattori, F., Fiorillo, C., Rodolico, C., Tasca, G., Verardo, M., Bellacchio, E., Pizzi, S., Ciolfi, A., Fagiolari, G., Lupica, A., Broda, P., Pedemonte, M., Moggio, M., Bruno, C., Tartaglia, M., Bertini, E. & D'Amico, A., Jun 1 2018, In : Clinical Genetics. 93, 6, p. 1234-1239 6 p.

Research output: Contribution to journalArticle

Cofilin 2
Myotonia Congenita
Muscular Diseases
Muscles
Mutation

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?

Vicari, S., Piccini, G., Mercuri, E., Battini, R., Chieffo, D., Bulgheroni, S., Pecini, C., Lucibello, S., Lenzi, S., Moriconi, F., Pane, M., D'Amico, A., Astrea, G., Baranello, G., Riva, D., Cioni, G. & Alfieri, P., Jan 16 2018, In : PLoS One. 13, 1, p. e0191164 10 p.

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
Intellectual Disability
learning
Learning

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

Maggi, L., Bernasconi, P., D'Amico, A., Brugnoni, R., Fiorillo, C., Garibaldi, M., Astrea, G., Bruno, C., Santorelli, F. M., Liguori, R., Antonini, G., Evoli, A., Bertini, E., Rodolico, C. & Mantegazza, R., Dec 15 2018, In : Neurological Sciences. 12 p.

Research output: Contribution to journalArticle

Congenital Myasthenic Syndromes
Inborn Genetic Diseases
Neuromuscular Junction
Differential Diagnosis
Mutation

MRI in sarcoglycanopathies: a large international cohort study

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R-Y., van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., 2018, In : Journal of neurology, neurosurgery, and psychiatry. 89, 1, p. 72-77 6 p.

Research output: Contribution to journalArticle

MRI in sarcoglycanopathies: A large international cohort study

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R-Y., Van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. 89, 1

Research output: Contribution to journalArticle

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

Castiglioni, C., Fattori, F., Udd, B., de Los Angeles Avaria, M., Suarez, B., D'Amico, A., Malandrini, A., Carrozzo, R., Verrigni, D., Bertini, E. & Tasca, G., Mar 2018, In : European Journal of Human Genetics. 26, 3, p. 367-373 7 p.

Research output: Contribution to journalArticle

Glaucoma
Cataract
Distal Myopathies
Slow-Twitch Muscle Fibers
Biopsy

Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function

Italian EAP working Group, Jul 2018, In : Neuromuscular Disorders. 28, 7, p. 582-585 4 p.

Research output: Contribution to journalArticle

Young Adult
Neurologic Examination
10 Citations (Scopus)

Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function

on behalf of the Italian EAP working Group, Jul 1 2018, In : Neuromuscular Disorders. 28, 7, p. 582-585 4 p.

Research output: Contribution to journalArticle

Young Adult
Neurologic Examination
Hereditary Spastic Paraplegia
Genetic Association Studies
Pediatrics
Genes
Single Nucleotide Polymorphism

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data

Pane, M., Coratti, G., Brogna, C., Mazzone, E. S., Mayhew, A., Fanelli, L., Messina, S., D'Amico, A., Catteruccia, M., Scutifero, M., Frosini, S., Lanzillotta, V., Colia, G., Cavallaro, F., Rolle, E., De Sanctis, R., Forcina, N., Petillo, R., Barp, A., Gardani, A. & 19 others, Pini, A., Monaco, G., D'Angelo, M. G., Zanin, R., Vita, G. L., Bruno, C., Mongini, T., Ricci, F., Pegoraro, E., Bello, L., Berardinelli, A., Battini, R., Sansone, V., Albamonte, E., Baranello, G., Bertini, E., Politano, L., Sormani, M. P. & Mercuri, E., 2018, In : PLoS One. 13, 6, p. e0199223

Research output: Contribution to journalArticle

muscular dystrophy
Duchenne Muscular Dystrophy
Upper Extremity
Trajectories
trajectories
2017
6 Citations (Scopus)

Congenital myopathies: Clinical phenotypes and new diagnostic tools

Cassandrini, D., Trovato, R., Rubegni, A., Lenzi, S., Fiorillo, C., Baldacci, J., Minetti, C., Astrea, G., Bruno, C., Santorelli, F. M., Berardinelli, A., Bertini, E. S., Comi, G., D'Amico, A., Donati, M. A., Dotti, M. T., Fattori, F., Grandis, M., Maggi, L., Magri, F. & 25 others, Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Mercuri, E., Merlini, L., Moggio, M., Mora, M., Morandi, L. O., Musumeci, O., Nigro, V., Pane, M., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Savarese, M., Siciliano, G., Simonati, A., Tonin, P. & Toscano, A., 2017, In : Italian Journal of Pediatrics. 43, 1

Research output: Contribution to journalArticle

9 Citations (Scopus)

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

D'Amico, A., Catteruccia, M., Baranello, G., Politano, L., Govoni, A., Previtali, S. C., Pane, M., D'Angelo, M. G., Bruno, C., Messina, S., Ricci, F., Pegoraro, E., Pini, A., Berardinelli, A., Gorni, K., Battini, R., Vita, G., Trucco, F., Scutifero, M., Petillo, R. & 9 others, D'Ambrosio, P., Ardissone, A., Pasanisi, B., Vita, G., Mongini, T., Moggio, M., Comi, G. P., Mercuri, E. & Bertini, E., 2017, In : Neuromuscular Disorders. 27, 5, p. 447-451 5 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Italy
Creatine Kinase
Incidental Findings
Muscle Weakness
9 Citations (Scopus)

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

D'Amico, A., Catteruccia, M., Baranello, G., Politano, L., Govoni, A., Previtali, S. C., Pane, M., D'Angelo, M. G., Bruno, C., Messina, S., Ricci, F., Pegoraro, E., Pini, A., Berardinelli, A., Gorni, K., Battini, R., Vita, G. L., Trucco, F., Scutifero, M., Petillo, R. & 9 others, D'Ambrosio, P., Ardissone, A., Pasanisi, B., Vita, G., Mongini, T., Moggio, M., Comi, G. P., Mercuri, E. & Bertini, E., 2017, In : Neuromuscular Disorders. 27, 5, p. 447-451 5 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Italy
Incidental Findings
Creatine
Muscle Weakness
9 Citations (Scopus)

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

D'Amico, A., Catteruccia, M., Baranello, G., Politano, L., Govoni, A., Previtali, S. C., Pane, M., D'Angelo, M. G., Bruno, C., Messina, S., Ricci, F., Pegoraro, E., Pini, A., Berardinelli, A., Gorni, K., Battini, R., Vita, G., Trucco, F., Scutifero, M., Petillo, R. & 8 others, D'Ambrosio, P., Ardissone, A., Pasanisi, B., Mongini, T., Moggio, M., Comi, G. P., Mercuri, E. & Bertini, E., May 27 2017, In : Neuromuscular Disorders. 27, 5, p. 447-451 5 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)

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

D'Amico, A., Catteruccia, M., Baranello, G., Politano, L., Govoni, A., Previtali, SC., Pane, M., D'Angelo, MG., Bruno, C., Messina, S., Ricci, F., Pegoraro, E., Pini, A., Berardinelli, A., Gorni, K., Battini, R., Vita, G., Trucco, F., Scutifero, M., Petillo, R. & 8 others, D'Ambrosio, P., Ardissone, A., Pasanisi, B., Mongini, T., Moggio, M., Comi, GP., Mercuri, E. & Bertini, E., 2017, In : Neuromuscular Disorders. 27, 5, p. 447-451 5 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Italy
Creatine Kinase
Incidental Findings
Muscle Weakness
9 Citations (Scopus)

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

D'Amico, A., Catteruccia, M., Baranello, G., Politano, L., Govoni, A., Previtali, S. C., Pane, M., D'Angelo, M. G., Bruno, C., Messina, S., Ricci, F., Pegoraro, E., Pini, A., Berardinelli, A., Gorni, K., Battini, R., Vita, G., Trucco, F., Scutifero, M., Petillo, R. & 8 others, D'Ambrosio, P., Ardissone, A., Pasanisi, B., Mongini, T., Moggio, M., Comi, G. P., Mercuri, E. & Bertini, E., 2017, In : Neuromuscular Disorders. 27, 5, p. 447-451 5 p.

Research output: Contribution to journalArticle

Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions

Politano, L., Scutifero, M., Patalano, M., Sagliocchi, A., Zaccaro, A., Civati, F., Brighina, E., Vita, G., Messina, S., Sframeli, M., Lombardo, M. E., Scalise, R., Colia, G., Catteruccia, M., Berardinelli, A., Motta, M. C., Gaiani, A., Semplicini, C., Bello, L., Astrea, G. & 9 others, Ricci, G., D'Angelo, M. G., Vita, G., Pane, M., D'Amico, A., Balottin, U., Angelini, C., Battini, R. & Magliano, L., 2017, In : Acta Myologica. 36, 1, p. 19-24 6 p.

Research output: Contribution to journalArticle

Muscular Dystrophies
Italy
Pharmacology
Therapeutics
Pharmaceutical Preparations

Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs

Magliano, L., Scutifero, M., Patalano, M., Sagliocchi, A., Zaccaro, A., Civati, F., Brighina, E., Vita, G., Messina, S., Sframeli, M., Lombardo, M. E., Scalise, R., Colia, G., Catteruccia, M., Berardinelli, A., Motta, M. C., Gaiani, A., Semplicini, C., Bello, L., Astrea, G. & 9 others, Ricci, G., D'Angelo, M. G., Vita, G., Pane, M., D'Amico, A., Balottin, U., Angelini, C., Battini, R. & Politano, L., 2017, In : Acta Myologica. 36, 2, p. 41-45 5 p.

Research output: Contribution to journalArticle

Financial Support
Muscular Dystrophies
Social Welfare
Italy
Psychology
9 Citations (Scopus)

MRI in sarcoglycanopathies: a large international cohort study

Tasca, G., Monforte, M., Díaz-Manera, J., Brisca, G., Semplicini, C., D'Amico, A., Fattori, F., Pichiecchio, A., Berardinelli, A., Maggi, L., Maccagnano, E., Løkken, N., Marini-Bettolo, C., Munell, F., Sanchez, A., Alshaikh, N., Voermans, N. C., Dastgir, J., Vlodavets, D., Haberlová, J. & 15 others, Magnano, G., Walter, M. C., Quijano-Roy, S., Carlier, R. Y., van Engelen, B. G. M., Vissing, J., Straub, V., Bönnemann, C. G., Mercuri, E., Muntoni, F., Pegoraro, E., Bertini, E., Udd, B., Ricci, E. & Bruno, C., Sep 9 2017, In : Journal of neurology, neurosurgery, and psychiatry. 89, 1, p. 72-77 6 p.

Research output: Contribution to journalArticle

Sarcoglycanopathies
Cohort Studies
Muscles
Sarcoglycans
Thigh
4 Citations (Scopus)

Muscle MRI in neutral lipid storage disease (NLSD)

Garibaldi, M., Tasca, G., Diaz-Manera, J., Ottaviani, P., Laschena, F., Pantoli, D., Gerevini, S., Fiorillo, C., Maggi, L., Tasca, E., D'Amico, A., Musumeci, O., Toscano, A., Bruno, C., Massa, R., Angelini, C., Bertini, E., Antonini, G. & Pennisi, E. M., Jul 2017, In : Journal of Neurology. 264, 7, p. 1334-1342 9 p.

Research output: Contribution to journalArticle

Lipids
Muscles
Rotator Cuff
Lipid Metabolism Disorders
Upper Extremity

Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life

Lehmann-Horn, F., D'Amico, A., Bertini, E., Lomonaco, M., Merlini, L., Nelson, K. R., Philippi, H., Siciliano, G., Spaans, F. & Jurkat-Rott, K., Sep 2017, In : Acta Myologica. 36, 3, p. 125-134 10 p.

Research output: Contribution to journalArticle

Laryngismus
Myotonia
Phenotype
Mutation
Warm-Up Exercise
7 Citations (Scopus)

Neutral Lipid Storage Diseases

Pennisi, E. M., Arca, M., Bertini, E., Bruno, C., Cassandrini, D., D'amico, A., Garibaldi, M., Gragnani, F., Maggi, L., Massa, R., Missaglia, S., Morandi, L., Musumeci, O., Pegoraro, E., Rastelli, E., Santorelli, F. M., Tasca, E., Tavian, D., Toscano, A., Angelini, C. & 1 others, Group, I. NLSD., May 12 2017, In : Orphanet Journal of Rare Diseases. 12, 1

Research output: Contribution to journalArticle

Lipids
Genetic Association Studies
Ichthyosis
Mutation
Defibrillators
7 Citations (Scopus)

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

Pennisi, E. M., Arca, M., Bertini, E., Bruno, C., Cassandrini, D., D'amico, A., Garibaldi, M., Gragnani, F., Maggi, L., Massa, R., Missaglia, S., Morandi, L., Musumeci, O., Pegoraro, E., Rastelli, E., Santorelli, F. M., Tasca, E., Tavian, D., Toscano, A. & Angelini, C., 2017, In : Orphanet Journal of Rare Diseases. 12, 1, p. 1-10 10 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)

Oxidative stress in Duchenne muscular dystrophy: Focus on the NRF2 redox pathway

Petrillo, S., Pelosi, L., Piemonte, F., Travaglini, L., Forcina, L., Catteruccia, M., Petrini, S., Verardo, M., D'Amico, A., Musaró, A. & Bertini, E., Jul 1 2017, In : Human Molecular Genetics. 26, 14, p. 2781-2790 10 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Oxidation-Reduction
Oxidative Stress
Antioxidants
NF-E2-Related Factor 2
2 Citations (Scopus)
Mosaicism
Collagen
Mutation
Muscular Diseases
Phenotype
11 Citations (Scopus)

Strategies for Disease Prevention and Health Promotion in Urban Areas: The Erice 50 Charter

50th Course "Urban Health. Instruments for promoting health and for assessing the hygienic and sanitary conditions in urban areas", Jan 1 2017, In : Annali di Igiene. 29, 6, p. 481-493 13 p.

Research output: Contribution to journalArticle

Health Promotion
Urban Health
Preventive Medicine
Public Health
Hygiene
2016
Apoptosis Inducing Factor
Motor Neuron Disease
Cytochrome-c Oxidase Deficiency
Phenotype
Charcot-Marie-Tooth Disease
22 Citations (Scopus)
Apoptosis Inducing Factor
Motor Neuron Disease
Cytochrome-c Oxidase Deficiency
Phenotype
Charcot-Marie-Tooth Disease
12 Citations (Scopus)

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review

Bottillo, I., Giordano, C., Cerbelli, B., D'Angelantonio, D., Lipari, M., Polidori, T., Majore, S., Bertini, E., D'Amico, A., Giannarelli, D., De Bernardo, C., Masuelli, L., Musumeci, F., Avella, A., Re, F., Zachara, E., d'Amati, G. & Grammatico, P., Sep 1 2016, In : Cardiovascular Pathology. 25, 5, p. 423-431 9 p.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type IIb
Cardiomegaly
Cardiomyopathies
Mutation
Heart Failure

Autophagy regulates satellite cell ability to regenerate normal and dystrophic muscles

Fiacco, E., Castagnetti, F., Bianconi, V., Madaro, L., De Bardi, M., Nazio, F., D'Amico, A., Bertini, E. S., Cecconi, F., Puri, P. L. & Latella, L., Jul 22 2016, (Accepted/In press) In : Cell Death and Differentiation.

Research output: Contribution to journalArticle

Autophagy
Duchenne Muscular Dystrophy
Muscles
Regeneration
Inbred mdx Mouse
28 Citations (Scopus)

Autophagy regulates satellite cell ability to regenerate normal and dystrophic muscles

Fiacco, E., Castagnetti, F., Bianconi, V., Madaro, L., de Bardi, M., Nazio, F., D'Amico, A., Bertini, E., Cecconi, F., Puri, P. L. & Latella, L., Jul 22 2016, (Accepted/In press) In : Cell Death and Differentiation.

Research output: Contribution to journalArticle

Autophagy
Duchenne Muscular Dystrophy
Muscles
Regeneration
Inbred mdx Mouse

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

Mercuri, E., Signorovitch, J. E., Swallow, E., Song, J., Ward, S. J., Pane, M., Mazzone, E. S., Messina, S., Vita, G., Sormani, M. P., D'Amico, A., Berardinelli, A., Magri, F., Comi, G. P., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Bruno, C. & 9 others, Politano, L., Previtali, S., Binks, M. H., Campion, G., Charnas, L., Kaye, E., Kelly, M., Morris, C. & Reha, A., Sep 1 2016, In : Neuromuscular Disorders. 26, 9, p. 576-583 8 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Natural History
Clinical Trials
Italy
Steroids
17 Citations (Scopus)

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

Mercuri, E., Signorovitch, J. E., Swallow, E., Song, J., Ward, S. J., Pane, M., Mazzone, E., Messina, S., Vita, G. L., Sormani, M. P., D'Amico, A., Berardinelli, A., Magri, F., Comi, G. P., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Bruno, C. & 9 others, Politano, L., Previtali, S., Binks, M. H., Campion, G., Charnas, L., Kaye, E., Kelly, M., Morris, C. & Reha, A., Sep 1 2016, In : Neuromuscular Disorders. 26, 9, p. 576-583 8 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Natural History
Clinical Trials
Italy
Steroids

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

Mercuri, E., Signorovitch, J. E., Swallow, E., Song, J., Ward, S. J., Pane, M., Mazzone, E. S., Messina, S., Vita, G., Sormani, M. P., D'Amico, A., Berardinelli, A., Magri, F., Comi, G. P., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Bruno, C. & 9 others, Politano, L., Previtali, S., Binks, M. H., Campion, G., Charnas, L., Kaye, E., Kelly, M., Morris, C. & Reha, A., Sep 1 2016, In : Neuromuscular Disorders. 26, 9, p. 576-583 8 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Natural History
Clinical Trials
Italy
Steroids

Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy

Mercuri, E., Signorovitch, J. E., Swallow, E., Song, J., Ward, S. J., Pane, M., Mazzone, E. S., Messina, S., Vita, G., Sormani, M. P., D'Amico, A., Berardinelli, A., Magri, F., Comi, G. P., Baranello, G., Mongini, T., Pini, A., Battini, R., Pegoraro, E., Bruno, C. & 9 others, Politano, L., Previtali, S., Binks, M. H., Campion, G., Charnas, L., Kaye, E., Kelly, M., Morris, C. & Reha, A., Sep 1 2016, In : Neuromuscular Disorders. 26, 9, p. 576-583 8 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Natural History
Clinical Trials
Italy
Steroids

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Scotton, C., Bovolenta, M., Schwartz, E., Falzarano, M. S., Martoni, E., Passarelli, C., Armaroli, A., Osman, H., Rodolico, C., Messina, S., Pegoraro, E., D'Amico, A., Bertini, E. S., Gualandi, F., Neri, M., Selvatici, R., Boffi, P., Maioli, M. A., Lochmüller, H., Straub, V. & 21 others, Bushby, K., Castrignanò, T., Pesole, G., Sabatelli, P., Merlini, L., Braghetta, P., Bonaldo, P., Bernardi, P., Foley, R., Cirak, S., Zaharieva, I., Muntoni, F., Capitanio, D., Gelfi, C., Kotelnikova, E., Yuryev, A., Lebowitz, M., Zhang, X., Hodge, B. A., Esser, K. A. & Ferlini, A., Apr 1 2016, In : Journal of Cell Science. 129, 8, p. 1671-1684 14 p.

Research output: Contribution to journalArticle

Muscular Diseases
Collagen
RNA
Genes
Autophagy
4 Citations (Scopus)

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Scotton, C., Bovolenta, M., Schwartz, E., Falzarano, M. S., Martoni, E., Passarelli, C., Armaroli, A., Osman, H., Rodolico, C., Messina, S., Pegoraro, E., D'Amico, A., Bertini, E., Gualandi, F., Neri, M., Selvatici, R., Boffi, P., Maioli, M. A., Lochmüller, H., Straub, V. & 21 others, Bushby, K., Castrignanò, T., Pesole, G., Sabatelli, P., Merlini, L., Braghetta, P., Bonaldo, P., Bernardi, P., Foley, R., Cirak, S., Zaharieva, I., Muntoni, F., Capitanio, D., Gelfi, C., Kotelnikova, E., Yuryev, A., Lebowitz, M., Zhang, X., Hodge, B. A., Esser, K. A. & Ferlini, A., Apr 1 2016, In : Journal of Cell Science. 129, 8, p. 1671-1684 14 p.

Research output: Contribution to journalArticle

Muscular Diseases
Collagen
RNA
Genes
Autophagy