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Auteur Mongini T |
Documents disponibles écrits par cet auteur



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Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis
Ricci G, Mele F, Govi M, et al.
Scientific Reports, 2020, 10, 1, p 21648
Revue : Scientific Reports, 10, 1 Titre : Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis Type de document : Article Auteurs : Ricci G ; Mele F ; Govi M ; Ruggiero L ; Sera F ; Vercelli L ; Bettio C ; Santoro L ; Mongini T ; Villa L ; Moggio M ; Filosto M ; Scarlato M ; Previtali SC ; Tripodi SM ; Pegoraro E ; Telese R ; Di Muzio A ; Rodolico C ; Bucci E ; Antonini G ; D'Angelo MG ; Berardinelli A ; Maggi L ; Piras R ; Maioli MA ; Siciliano G ; Tomelleri G ; Angelini C ; Tupler R Année de publication : 10/12/2020 Pages : p 21648 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33303865 / DOI : 10.1038/s41598-020-78578-7
N° Profil MNM : 2020122 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33303865 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy
Ruggiero L, Mele F, Manganelli F, et al.
JAMA network open, 2020, 3, 5
Revue : JAMA network open, 3, 5 Titre : Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy Type de document : Article Auteurs : Ruggiero L ; Mele F ; Manganelli F ; Bruzzese D ; Ricci G ; Vercelli L ; Govi M ; Vallarola A ; Tripodi S ; Villa L ; Di Muzio A ; Scarlato M ; Bucci E ; Antonini G ; Maggi L ; Rodolico C ; Tomelleri G ; Filosto M ; Previtali S ; Angelini C ; Berardinelli A ; Pegoraro E ; Moggio M ; Mongini T ; Siciliano G ; Santoro L ; Tupler R Année de publication : 05/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32356886 / DOI : DOI: 10.1001/jamanetworkopen.2020.4040
N° Profil MNM : 2020051 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32356886 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Genetic modifiers of respiratory function in Duchenne muscular dystrophy
Bello L, D'Angelo G, Villa M, et al.
Annals of clinical and translational neurology, 2020
Revue : Annals of clinical and translational neurology Titre : Genetic modifiers of respiratory function in Duchenne muscular dystrophy Type de document : Article Auteurs : Bello L, Auteur ; D'Angelo G ; Villa M ; Fusto A ; Vianello S ; Merlo B ; Sabbatini D ; Barp A ; Gandossini S ; Magri F ; Comi GP ; Pedemonte M ; Tacchetti P ; Lanzillotta V ; Trucco F ; D'Amico A ; Bertini E ; Astrea G ; Politano L ; Masson R ; Baranello G ; Albamonte E ; De Mattia E ; Rao F ; Sansone VA ; Previtali S ; Messina S ; Vita GL ; Berardinelli A ; Mongini T ; Pini A ; Pane M ; Mercuri E ; Vianello A ; Bruno C ; Hoffman EP ; Morgenroth L ; Gordish-Dressman H ; McDonald CM ; Pegoraro E Editeur : United States Année de publication : 04/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32343055 / DOI : 10.1002/acn3.51046
N° Profil MNM : 2020051 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32343055 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies
Nikolic A, Jones TI, Govi M, et al.
International Journal of molecular sciences, 2020, 21, 7, p 2635
Revue : International Journal of molecular sciences, 21, 7 Titre : Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies Type de document : Article Auteurs : Nikolic A, Auteur ; Jones TI ; Govi M ; Mele F ; Maranda L ; Sera F ; Ricci G ; Ruggiero L ; Vercelli L ; Portaro S ; Villa L ; Fiorillo C ; Maggi L ; Santoro L ; Antonini G ; Filosto M ; Moggio M ; Angelini C ; Pegoraro E ; Berardinelli A ; Maioli MA ; D'Angelo G ; Di Muzio A ; Siciliano G ; Tomelleri G ; D'Esposito M ; Della Ragione F ; Brancaccio A ; Piras R ; Rodolico C ; Mongini T ; Magdinier F ; Salsi V ; Jones PL ; Tupler R Année de publication : 04/2020 Pages : p 2635 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32290091 / DOI : 10.3390/ijms21072635
N° Profil MNM : 2020042 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32290091 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Psychosocial impact of sport activity in neuromuscular disorders
Vita GL, Stancanelli C, La Foresta S, et al.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Revue : Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology Titre : Psychosocial impact of sport activity in neuromuscular disorders Type de document : Article Auteurs : Vita GL, Auteur ; Stancanelli C ; La Foresta S ; Faraone C ; Sframeli M ; Ferrero A ; Fattore C ; Galbo R ; Ferraro M ; Ricci G ; Cotti Piccinelli S ; Pizzighello S ; Filosto M ; Martinuzzi A ; Padua L ; Trimarchi G ; Siciliano G ; Mongini T ; Lombardo ME ; Berardinelli A ; Vita G Editeur : Italy Année de publication : 04/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32246354 / DOI : 10.1007/s10072-020-04345-1
N° Profil MNM : 2020041 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32246354 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study
Neri M, Rossi R, Trabanelli C, et al.
Frontiers in Genetics, 2020, 11, p 131
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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, alpha-dystroglycan hypoglycosylation and a distinctive radiological pattern
Servian-Morilla E, Cabrera-Serrano M, Johnson K, et al.
Acta neuropathologica, 2020
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Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients
Maggi L, Brugnoni R, Canioni E, et al.
Frontiers in neurology, 2020, 11, p 646
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A 5-year clinical follow-up study from the Italian National Registry for FSHD
Vercelli L, Mele F, Ruggiero L, et al.
Journal of neurology, 2020
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Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3
Maggi L, Bello L, Bonanno S, et al.
Journal of neurology, neurosurgery, and psychiatry, 2020
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Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach
Iolascon G, Vitacca M, Carraro E, et al.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019
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Practical approach to respiratory emergencies in neurological diseases
Racca F, Vianello A, Mongini T, et al.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019
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Intrathecal administration of nusinersen in adult and adolescent patients with spinal muscular atrophy and scoliosis: Transforaminal versus conventional approach
Bortolani S, Stura G, Ventilii G, et al.
Neuromuscular disorders : NMD, 2019
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Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53
Brogna C, Coratt G, Pane M, et al.
PLoS ONE, 2019, 14, 7
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Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
Brogna C, Coratti G, Pane M, et al.
PLoS ONE, 2019, 14, n6
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Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group
Filosto M, Cotti Piccinelli S, Ravaglia S, et al.
Advances in therapy, 2019, 36, 5, p 1177
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Muscle pain in mitochondrial diseases: a picture from the Italian network
Filosto M, Cotti Piccinelli S, Lamperti C, et al.
Journal of neurology, 2019, 266, 4, p 953
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microRNAs as biomarkers in Pompe disease
Tarallo A, Carissimo A, Gatto F, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019, 21, 3, p 591
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Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol
Tiziano FD, Tiziano FD, Lomastro R, et al.
Journal of medical genetics, 2018
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Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care
Ricci F, Brusa C, Rossi F, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2018, 22, 6, p 1103
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microRNAs as biomarkers in Pompe disease
Tarallo A, Tarallo A, Carissimo A, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2018
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Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population
Johnson K, De Ridder W, Töpf A, et al.
Journal of neurology, neurosurgery, and psychiatry, 2018
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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
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Elevated TGF Beta2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes
Bernasconi P, Carboni N, Ricci G, et al.
Nucleus (Austin, Tex.), 2018, 9, 1, p 292
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Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data
Pane M, Coratti G, Brogna C, et al.
PLoS ONE, 2018, 13, 6
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