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Auteur Minetti C |
Documents disponibles écrits par cet auteur



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Novel TRIM32 mutation in sarcotubular myopathy
Panicucci C, Traverso M, Baratto S, et al.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 1
Revue : Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 38, 1 Titre : Novel TRIM32 mutation in sarcotubular myopathy Type de document : Article Auteurs : Panicucci C, Auteur ; Traverso M ; Baratto S ; Romeo C ; Iacomino M ; Gemelli C ; Tagliafico A ; Broda P ; Zara F ; Bruno C ; Minetti C ; Fiorillo C Année de publication : 06/2019 Langues : Anglais (eng) Lien associé : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598407/ Pubmed / DOI : Pubmed : 31309175 N° Profil MNM : 2019072 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial
Trucco F, Pedemonte M, Racca F, et al.
Journal of telemedicine and telecare, 2018
Revue : Journal of telemedicine and telecare Titre : Tele-monitoring in paediatric and young home-ventilated neuromuscular patients: A multicentre case-control trial Type de document : Article Auteurs : Trucco F, Auteur ; Pedemonte M ; Racca F ; Falsaperla R ; Romano C ; Wenzel A ; D'Agostino A ; Pistorio A ; Tacchetti P ; Bella C ; Bruno C ; Minetti C Année de publication : 04/06/2018 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1177/1357633X18778479 / Pubmed : 29865934
N° Profil MNM : 2018061 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29865934 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease
Savarese M, Torella A, Musumeci O, et al.
Neuromuscular disorders : NMD, 2018
Revue : Neuromuscular disorders : NMD Titre : Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease Type de document : Article Auteurs : Savarese M, Auteur ; Torella A ; Musumeci O ; Angelini C ; Astrea G ; Bello L ; Bruno C ; Comi GP ; Di Fruscio G ; Piluso G ; Di iorio G ; Ergoli M ; Esposito G ; Fanin M ; Farina O ; Fiorillo C ; Garofalo A ; Giugliano T ; Magri F ; Minetti C ; Moggio M ; Passamano L ; Pegoraro E ; Picillo E ; Sampaolo S ; Santorelli FM ; Semplicini C ; Udd B ; Toscano A ; Politano L ; Nigro V Année de publication : 09/04/2018 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1016/j.nmd.2018.03.011 / Pubmed : 29880332
N° Profil MNM : 2018061 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29880332 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Clinical and molecular consequences of exon 78 deletion in DMD gene
Traverso M, Assereto S, Baratto S, et al.
Journal of human genetics, 2018
Revue : Journal of human genetics Titre : Clinical and molecular consequences of exon 78 deletion in DMD gene Type de document : Article Auteurs : Traverso M, Auteur ; Assereto S ; Baratto S ; Iacomino M ; Pedemonte M ; Diana MC ; Ferretti M ; Broda P ; Minetti C ; Gazzerro E ; Madia F ; Bruno C ; Zara F ; Fiorillo C Année de publication : 19/03/2018 Langues : Anglais (eng) Mots-clés : analyse génétique ; corrélation génotype-phénotype ; délétion génétique ; diagnostic génétique ; dystrophie musculaire de Becker ; dystrophie musculaire de Duchenne ; dystrophine ; enfant ; étude de cas ; examen clinique ; gène DMD ; histopathologie musculaire ; mutation génétique Pubmed / DOI : DOI : 10.1038/s10038-018-0439-6 / Pubmed : 29556034
N° Profil MNM : 2018032 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29556034 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders
Savarese M, Maggi L, Vihola A, et al.
JAMA Neurology, 2018, 75, 5, p 557
Revue : JAMA Neurology, 75, 5 Titre : Interpreting Genetic Variants in Titin in Patients With Muscle Disorders Type de document : Article Auteurs : Savarese M, Auteur ; Maggi L ; Vihola A ; Jonson PH ; Tasca G ; Ruggiero L ; Bello L ; Magri F ; Giugliano T ; Torella A ; Evila A ; Di Fruscio G ; Vanakker O ; Gibertini S ; Vercelli L ; Ruggieri A ; Antozzi C ; Luque H ; Janssens S ; Pasanisi MB ; Fiorillo C ; Raimondi M ; Ergoli M ; Politano L ; Bruno C ; Rubegni A ; Pane M ; Santorelli FM ; Minetti C ; Angelini C ; De Bleecker J ; Moggio M ; Mongini T ; Comi GP ; Santoro L ; Mercuri E ; Pegoraro E ; Mora M ; Hackman P ; Udd B ; Nigro V Année de publication : 2018 Pages : p 557 Note générale : Erratum in:
Incorrect Degree. [JAMA Neurol. 2018] = "In the Original Investigation titled “Interpreting Genetic Variants in Titin in Patients With Muscle Disorders,” published online on February 12, 2018, sixth author Alessandra Ruggieri’s degree was incorrectly listed as “PhD” instead of “MSc.” This article was corrected online."
Langues : Anglais (eng) Mots-clés : analyse génétique ; diagnostic génétique ; examen clinique ; gène TTN ; mutation génétique ; titine (maladie neuromusculaire liée à) Résumé : Comment in:
Understanding Titin Variants in the Age of Next-Generation Sequencing-A Titanic Challenge. [JAMA Neurol. 2018]
Pubmed / DOI : DOI : 10.1001/jamaneurol.2017.4899 / Pubmed : 29435569
N° Profil MNM : 2018022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29435569 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Mutations in GMPPB Presenting with Pseudometabolic Myopathy
Panicucci C, Fiorillo C, Moro F, et al.
JIMD reports, 2018, 38, p 23
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Revisiting mitochondrial ocular myopathies: a study from the Italian Network
Orsucci D, Angelini C, Bertini E, et al.
Journal of neurology, 2017, 264, 8, p 1777
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The Italian Limb Girdle Muscular Dystrophy registry: Relative frequency, clinical features, and differential diagnosis
Magri F, Nigro V, Angelini C, et al.
Muscle & Nerve, 2016, 55, 1, p 55
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The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients
Savarese M, Di Fruscio G, Torella A, et al.
Neurology, 2016, 87, 1, p 71
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Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study
Messina S, Vita GL, Sframeli M, et al.
Neuromuscular disorders : NMD, 2016, 26, 3, p 189
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Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers
Savarese M, Musumeci O, Giugliano T, et al.
Neuromuscular disorders : NMD, 2016, 26, 4-5, p. 292-299
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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
Fiorillo C, Astrea G, Savarese M, et al.
Orphanet journal of rare diseases, 2016, 11, 1, p 91
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Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy
Papa R, Madia F, Bartolomeo D, et al.
Pediatric neurology, 2016, 55, p 58
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Respiratory pattern in a FSHD pediatric population
Trucco F, Pedemonte M, Fiorillo C, et al.
Respiratory medicine, 2016, 119, p 78
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Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease
Varsani H, Charman SC, Li CK, et al.
Annals of the rheumatic diseases, 2015, 74, 1, p. 204-210
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Prevalence of congenital muscular dystrophy in Italy : A population study
Graziano A, Bianco F, D'Amico A, et al.
Neurology, 2015, 84, 9, p 904
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Vaccination recommendations for patients with neuromuscular disease
Esposito S, Bruno C, Berardinelli A, et al.
Vaccine, 2014, 32, 45, p 5893
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VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
Ramachandran N, Munteanu I, Wang P, et al.
Acta neuropathologica, 2013, 125, 3, p 439
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Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation
Mancuso M, Orsucci D, Angelini C, et al.
Neurology, 2013, 80, 22, p. 2049-2054
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Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy
Bello L, Piva L, Barp A, et al.
Neurology, 2012, 79, 2, p. 159-162
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Therapeutic approaches in the treatment of juvenile dermatomyositis in patients with recent-onset disease and in those experiencing disease flare. An international multicenter PRINTO study
Hasija R, Pistorio A, Ravelli A, et al.
Arthritis and rheumatism, 2011, 63, 10, p. 3142-3152
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Muscular dystrophy with marked dysferlin deficiency is consistently caused by primary dysferlin gene mutations
Cacciottolo M, Numitone G, Aurino S, et al.
European journal of human genetics, 2011, 19, 9, p. 974-980
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Caveolinopathies : translational implications of caveolin-3 in skeletal and cardiac muscle disorders
Gazzero E, Bonetto A, Minetti C
Handbook of Clinical Neurology (Muscular Dystrophies), 2011, 101, 3rd series, cha, p. 135-142, p. 10
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Quality of life in Duchenne Muscular Dystrophy : Subjective impact on children and parents
Baiardini I, Minetti C, Bonifacio S, et al.
Journal of child neurology, 2011, 26, 6, p. 707-713
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