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Auteur Angelini C
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Angelini C
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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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Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1
Simoncini C, Spadoni G, Lai E, et al.
Frontiers in neurology, 2020, 11, p 624
Revue : Frontiers in neurology, 11 Titre : Central Nervous System Involvement as Outcome Measure for Clinical Trials Efficacy in Myotonic Dystrophy Type 1 Type de document : Article Auteurs : Simoncini C ; Spadoni G ; Lai E ; Santoni L ; Angelini C ; Ricci G ; Siciliano G Année de publication : 07/10/2020 Pages : p 624 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33117249 / DOI : 10.3389/fneur.2020.00624
N° Profil MNM : 2020111 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33117249 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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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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MiRNAs, Myostatin, and Muscle MRI Imaging as Biomarkers of Clinical Features in Becker Muscular Dystrophy
Marozzo R, Pegoraro V, Angelini C
Diagnostics (Basel, Switzerland), 2020, 10, 9
Revue : Diagnostics (Basel, Switzerland), 10, 9 Titre : MiRNAs, Myostatin, and Muscle MRI Imaging as Biomarkers of Clinical Features in Becker Muscular Dystrophy Type de document : Article Auteurs : Marozzo R ; Pegoraro V ; Angelini C Editeur : Switzerland Année de publication : 2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32961888 / DOI : 10.3390/diagnostics10090713
N° Profil MNM : 2020092 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32961888 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Diagnostic challenges in metabolic myopathies
Angelini C, Marozzo R, Pegoraro V, et al.
Expert Review of Neurotherapeutics, 2020
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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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Transportin 3 (TNPO3) and related proteins in limb girdle muscular dystrophy D2 muscle biopsies: A morphological study and pathogenetic hypothesis
Costa R, Rodia MT, Vianello S, et al.
Neuromuscular disorders : NMD, 2020, 30, 8, p 685
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Current and emerging therapies in Becker muscular dystrophy (BMD)
Angelini C, Marozzo R, Pegoraro V
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2019, 38, 3, p 172
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Update on polyglucosan storage diseases
Cenacchi G, Papa V, Costa R, et al.
Virchows Archiv : an international journal of pathology, 2019
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A new family with transportinopathy: increased clinical heterogeneity.
Angelini C, Marozzo R, Pinzan E, et al.
Therapeutic advances in neurological disorders, 2019, 12
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Advances in imaging of brain abnormalities in neuromuscular disease
Angelini C, Pinzan E
Therapeutic advances in neurological disorders, 2019
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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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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
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An update on diagnostic options and considerations in limb-girdle dystrophies
Angelini C, Giaretta L, Marozzo R
Expert Review of Neurotherapeutics, 2018, 18, 9, p 693
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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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European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience
van der Ploeg AT, Kruijshaar ME, Toscano A, et al.
European journal of neurology, 2017, 24, 6
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Renal Involvement in Idiopathic Inflammatory Myopathies
Cucchiari D, Angelini C
Clinical reviews in allergy and immunology, 2017, 52, 1, p 99
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Muscle MRI in neutral lipid storage disease (NLSD)
Garibaldi M, Tasca G, Diaz-Manera J, et al.
Journal of neurology, 2017, 264, 7, p 1334
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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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Elevated Expression of Moesin in Muscular Dystrophies
Pines M, Levi O, Genin O, et al.
The American journal of pathology, 2017, 187, 3, p 654
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Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I
Brockhoff M, Rion N, Chojnowska K, et al.
The Journal of clinical investigation, 2017, 127, 2, p 549
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Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies
Bello L, Campadello P, Barp A, et al.
Scientific Reports, 2016, 6, 10 p.
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Effects of Functional Electrical Stimulation Lower Extremity Training in Myotonic Dystrophy Type I: A Pilot Controlled Study
Cudia P, Weis L, Baba A, et al.
American journal of physical medicine & rehabilitation, 2016, 95, 11, p 809
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