• 613 Citations
  • 15 h-Index
20092019
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Research Output 2009 2019

  • 613 Citations
  • 15 h-Index
  • 45 Article
  • 1 Comment/debate
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Article
2019
ivabradine
Cardiomyopathies
Duchenne Muscular Dystrophy
Dilated Cardiomyopathy
Heart Rate

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

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
12 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

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
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

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., Amico, A. D., 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., Angelo, M. G. D., 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

Research output: Contribution to journalArticle

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., Amico, A. D., 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., Angelo, M. G. D., 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

Research output: Contribution to journalArticle

2017
12 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

12 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
12 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

12 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
12 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
15 Citations (Scopus)

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

Messina, S., Pane, M., Sansone, V., Bruno, C., Catteruccia, M., Vita, G., Palermo, C., Albamonte, E., Pedemonte, M., Bertini, E., Binetti, L., Mercuri, E., Italian EAP working Group & Ambrosini, A., Dec 2017, In : Neuromuscular Disorders. 27, 12, p. 1084-1086 3 p.

Research output: Contribution to journalArticle

15 Citations (Scopus)

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

Messina, S., Pane, M., Sansone, V., Bruno, C., Catteruccia, M., Vita, G., Palermo, C., Albamonte, E., Pedemonte, M., Bertini, E., Binetti, L., Mercuri, E., Group, I. EAP. W. & Ambrosini, A., Dec 1 2017, In : Neuromuscular Disorders. 27, 12, p. 1084-1086 3 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
3 Citations (Scopus)
Peptide Elongation Factor Tu
Peptide Elongation Factors
Leukoencephalopathies
Mitochondrial DNA
Transfer RNA
11 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
2016
12 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., Jul 4 2016, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Italy
Creatine Kinase
Incidental Findings
Muscle Weakness

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Bettica, P., Petrini, S., D'Oria, V., D'Amico, A., Catteruccia, M., Pane, M., Sivo, S., Magri, F., Brajkovic, S., Messina, S., Vita, G. L., Gatti, B., Moggio, M. G., Puri, P. L., Rocchetti, M., De Nicolao, G., Vita, G., Comi, G. P., Bertini, E. S. & Mercuri, E., Oct 1 2016, In : Neuromuscular Disorders. 26, 10, p. 643-649 7 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Muscles
Dystrophin
Inbred mdx Mouse
Biopsy
28 Citations (Scopus)

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Bettica, P., Petrini, S., D'Oria, V., D'Amico, A., Catteruccia, M., Pane, M., Sivo, S., Magri, F., Brajkovic, S., Messina, S., Vita, G. L., Gatti, B., Moggio, M., Puri, P. L., Rocchetti, M., De Nicolao, G., Vita, G., Comi, G. P., Bertini, E. & Mercuri, E., Oct 1 2016, In : Neuromuscular Disorders. 26, 10, p. 643-649 7 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Muscles
Dystrophin
Inbred mdx Mouse
Biopsy

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Bettica, P., Petrini, S., D'Oria, V., D'Amico, A., Catteruccia, M., Pane, M., Sivo, S., Magri, F., Brajkovic, S., Messina, S., Vita, G. L., Gatti, B., Moggio, M., Puri, P. L., Rocchetti, M., De Nicolao, G., Vita, G., Comi, G. P., Bertini, E. S. & Mercuri, E., Oct 1 2016, In : Neuromuscular Disorders. 26, 10, p. 643-649 7 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Muscles
Dystrophin
Inbred mdx Mouse
Biopsy
2015
20 Citations (Scopus)

Burden, professional support, and social network in families of children and young adults with muscular dystrophies

Magliano, L., Patalano, M., Sagliocchi, A., Scutifero, M., Zaccaro, A., D'angelo, M. G., Civati, F., Brighina, E., Vita, G., Vita, G. L., Messina, S., Sframeli, M., Pane, M., Lombardo, M. E., Scalise, R., D'amico, A., Colia, G., Catteruccia, M., Balottin, U., Berardinelli, A. & 8 others, Chiara Motta, M., Angelini, C., Gaiani, A., Semplicini, C., Bello, L., Battini, R., Astrea, G. & Politano, L., Jul 1 2015, In : Muscle and Nerve. 52, 1, p. 13-21 9 p.

Research output: Contribution to journalArticle

Muscular Dystrophies
Social Support
Young Adult
Emotions
Emergencies
26 Citations (Scopus)

Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort

Fattori, F., Maggi, L., Bruno, C., Cassandrini, D., Codemo, V., Catteruccia, M., Tasca, G., Berardinelli, A., Magri, F., Pane, M., Rubegni, A., Santoro, L., Ruggiero, L., Fiorini, P., Pini, A., Mongini, T., Messina, S., Brisca, G., Colombo, I., Astrea, G. & 17 others, Fiorillo, C., Bragato, C., Moroni, I., Pegoraro, E., D’Apice, M. R., Alfei, E., Mora, M., Morandi, L., Donati, A., Evilä, A., Vihola, A., Udd, B., Bernansconi, P., Mercuri, E., Santorelli, F. M., Bertini, E. & D’Amico, A., May 10 2015, In : Journal of Neurology. 262, 7, p. 1728-1740 13 p.

Research output: Contribution to journalArticle

Congenital Structural Myopathies
Mutation
Genes
Genetic Testing
Muscular Diseases

Erratum: Redefining phenotypes associated with mitochondrial DNA single deletion (J Neurol, (2015) 262, (1301-1309), DOI 10.1007/s00415-015-7710-y)

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Donati, M. A., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Toscano, A., Bruno, C., Bello, L., Ienco, E. C., Cardaioli, E., Catteruccia, M. & 14 others, Da Pozzo, P., Filosto, M., Lamperti, C., Moroni, I., Musumeci, O., Pegoraro, E., Ronchi, D., Sauchelli, D., Scarpelli, M., Sciacco, M., Valentino, M. L., Vercelli, L., Zeviani, M. & Siciliano, G., Dec 1 2015, In : Journal of Neurology. 262, 12, p. 2800 1 p.

Research output: Contribution to journalArticle

29 Citations (Scopus)

Redefining phenotypes associated with mitochondrial DNA single deletion

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Donati, M. A., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Toscano, A., Bruno, C., Bello, L., Caldarazzo Ienco, E., Cardaioli, E., Catteruccia, M. & 14 others, Da Pozzo, P., Filosto, M., Lamperti, C., Moroni, I., Musumeci, O., Pegoraro, E., Ronchi, D., Sauchelli, D., Scarpelli, M., Sciacco, M., Valentino, M. L., Vercelli, L., Zeviani, M. & Siciliano, G., Mar 26 2015, In : Journal of Neurology. 262, 5, p. 1301-1309 9 p.

Research output: Contribution to journalArticle

Mitochondrial DNA
Chronic Progressive External Ophthalmoplegia
Phenotype
Databases
Mitochondrial Diseases
22 Citations (Scopus)

“Myo-cardiomyopathy” is commonly associated with the A8344G “MERRF” mutation

Catteruccia, M., Sauchelli, D., Della Marca, G., Primiano, G., Cuccagna, C., Bernardo, D., Leo, M., Camporeale, A., Sanna, T., Cianfoni, A. & Servidei, S., 2015, In : Journal of Neurology. 262, 3, p. 701-710 10 p.

Research output: Contribution to journalArticle

MERRF Syndrome
Cardiomyopathies
Lactic Acidosis
Mutation
Respiratory Insufficiency
2014
17 Citations (Scopus)

"I have got something positive out of this situation": Psychological benefits of caregiving in relatives of young people with muscular dystrophy

Magliano, L., Patalano, M., Sagliocchi, A., Scutifero, M., Zaccaro, A., D'Angelo, M. G., Civati, F., Brighina, E., Vita, G., Vita, G. L., Messina, S., Sframeli, M., Pane, M., Lombardo, M. E., Scalise, R., D'Amico, A., Colia, G., Catteruccia, M., Balottin, U., Berardinelli, A. & 9 others, Motta, M. C., Angelini, C., Gaiani, A., Semplicini, C., Bello, L., Battini, R., Astrea, G., Ricci, G. & Politano, L., Jan 2014, In : Journal of Neurology. 261, 1, p. 188-195 8 p.

Research output: Contribution to journalArticle

Muscular Dystrophies
Psychology
Social Support
Limb-Girdle Muscular Dystrophies
Aptitude
22 Citations (Scopus)

Myoclonus in mitochondrial disorders

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Catteruccia, M., Pegoraro, E., Carelli, V., Valentino, M. L., Comi, G. P., Minetti, C., Bruno, C., Moggio, M., Ienco, E. C., Mongini, T., Vercelli, L., Primiano, G., Servidei, S., Tonin, P., Scarpelli, M., Toscano, A. & 9 others, Musumeci, O., Moroni, I., Uziel, G., Santorelli, F. M., Nesti, C., Filosto, M., Lamperti, C., Zeviani, M. & Siciliano, G., 2014, In : Movement Disorders. 29, 6, p. 722-728 7 p.

Research output: Contribution to journalArticle

Mitochondrial Diseases
Myoclonus
MERRF Syndrome
Epilepsy
Mutation
14 Citations (Scopus)
Pulmonary Hypertension
Newborn Infant
Hypertrophic Cardiomyopathy
Echocardiography
Mutation
39 Citations (Scopus)

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy

Pane, M., Mazzone, E. S., Fanelli, L., De Sanctis, R., Bianco, F., Sivo, S., D'Amico, A., Messina, S., Battini, R., Scutifero, M., Petillo, R., Frosini, S., Scalise, R., Vita, G., Bruno, C., Pedemonte, M., Mongini, T., Pegoraro, E., Brustia, F., Gardani, A. & 22 others, Berardinelli, A., Lanzillotta, V., Viggiano, E., Cavallaro, F., Sframeli, M., Bello, L., Barp, A., Bonfiglio, S., Rolle, E., Colia, G., Catteruccia, M., Palermo, C., D'Angelo, G., Pini, A., Iotti, E., Gorni, K., Baranello, G., Morandi, L., Bertini, E., Politano, L., Sormani, M. & Mercuri, E., Mar 2014, In : Neuromuscular Disorders. 24, 3, p. 201-206 6 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Upper Extremity
Activities of Daily Living
Young Adult
Outcome Assessment (Health Care)
54 Citations (Scopus)

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Mancuso, M., Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Donati, A., Minetti, C., Moggio, M., Mongini, T., Servidei, S., Tonin, P., Toscano, A., Uziel, G., Bruno, C., Ienco, E. C., Filosto, M., Lamperti, C., Catteruccia, M., Moroni, I. & 11 others, Musumeci, O., Pegoraro, E., Ronchi, D., Santorelli, F. M., Sauchelli, D., Scarpelli, M., Sciacco, M., Valentino, M. L., Vercelli, L., Zeviani, M. & Siciliano, G., 2014, In : Journal of Neurology. 261, 3, p. 504-510 7 p.

Research output: Contribution to journalArticle

Mitochondrial DNA
Stroke
MELAS Syndrome
Phenotype
Mutation
2013
11 Citations (Scopus)
Ophthalmoplegia
Muscular Diseases
Missense Mutation
Myosins
Myotonia Congenita

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.

Catteruccia, M., Fattori, F., Codemo, V., Ruggiero, L., Maggi, L., Tasca, G., Fiorillo, C., Pane, M., Berardinelli, A., Verardo, M., Bragato, C., Mora, M., Morandi, L., Bruno, C., Santoro, L., Pegoraro, E., Mercuri, E., Bertini, E. & D'Amico, A., Mar 2013, In : Neuromuscular Disorders. 23, 3, p. 229-238 10 p.

Research output: Contribution to journalArticle

Dynamin II
Congenital Structural Myopathies
Muscles
Mutation
Inborn Genetic Diseases

Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort

Catteruccia, M., Fattori, F., Codemo, V., Ruggiero, L., Maggi, L., Tasca, G., Fiorillo, C., Pane, M., Berardinelli, A., Verardo, M., Bragato, C., Mora, M., Morandi, L., Bruno, C., Santoro, L., Pegoraro, E., Mercuri, E., Bertini, E. & D'Amico, A., 2013, (Accepted/In press) In : Neuromuscular Disorders.

Research output: Contribution to journalArticle

Dynamin II
Congenital Structural Myopathies
Muscles
Mutation
Inborn Genetic Diseases
31 Citations (Scopus)

Early neurodevelopmental assessment in Duchenne muscular dystrophy

Pane, M., Scalise, R., Berardinelli, A., D'Angelo, G., Ricotti, V., Alfieri, P., Moroni, I., Hartley, L., Pera, M. C., Baranello, G., Catteruccia, M., Casalino, T., Romeo, D. M., Graziano, A., Gandioli, C., Bianco, F., Mazzone, E. S., Lombardo, M. E., Scoto, M., Sivo, S. & 7 others, Palermo, C., Gualandi, F., Sormani, M. P., Ferlini, A., Bertini, E., Muntoni, F. & Mercuri, E., Jun 2013, In : Neuromuscular Disorders. 23, 6, p. 451-455 5 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
Dystrophin
Mutation
Exons
Protein Isoforms
20 Citations (Scopus)
Riboflavin
Mutation
Deafness
Paralysis
Sequence Analysis
2012
25 Citations (Scopus)

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: A clinical, biochemical and genetic study

Ciccolella, M., Catteruccia, M., Benedetti, S., Moroni, I., Uziel, G., Pantaleoni, C., Chiapparini, L., Bizzi, A., D'Amico, A., Fattori, F., Salsano, M. L., Pastore, A., Tozzi, G., Piemonte, F. & Bertini, E., Dec 2012, In : Neuromuscular Disorders. 22, 12, p. 1075-1082 8 p.

Research output: Contribution to journalArticle

Progressive Bulbar Palsy
Molecular Biology
Riboflavin
Deafness
Auditory Evoked Potentials
94 Citations (Scopus)

EPI-743 reverses the progression of the pediatric mitochondrial disease-Genetically defined Leigh Syndrome

Martinelli, D., Catteruccia, M., Piemonte, F., Pastore, A., Tozzi, G., Dionisi-Vici, C., Pontrelli, G., Corsetti, T., Livadiotti, S., Kheifets, V., Hinman, A., Shrader, W. D., Thoolen, M., Klein, M. B., Bertini, E. & Miller, G., Nov 2012, In : Molecular Genetics and Metabolism. 107, 3, p. 383-388 6 p.

Research output: Contribution to journalArticle

Leigh Disease
Mitochondrial Diseases
Pediatrics
Disease Progression
Compassionate Use Trials
12 Citations (Scopus)
Chronic Inflammatory Demyelinating Polyradiculoneuropathy
Therapeutics
Immunosuppressive Agents
Rituximab
2009
1 Citation (Scopus)

Restless legs syndrome with periodic limb movements: A possible cause of idiopathic hyperckemia

Della Marca, G., Dittoni, S., Catteruccia, M., Frusciante, R., Madia, F., Losurdo, A., Testani, E., Vollono, C. & Servidei, S., Aug 25 2009, In : Neurology. 73, 8, p. 643-645 3 p.

Research output: Contribution to journalArticle

20 Citations (Scopus)

Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene

Catteruccia, M., Sanna, T., Santorelli, F. M., Tessa, A., Giacopo, R. D., Sauchelli, D., Verbo, A., Monaco, M. L. & Servidei, S., Nov 2009, In : Neuromuscular Disorders. 19, 11, p. 779-783 5 p.

Research output: Contribution to journalArticle

Caveolin 3
Cardiomyopathies
Mutation
Genes
Myocardium