Détail de l'auteur
Auteur Bruno C
Forme retenue (renvoi voir) :
Bruno C
|
Documents disponibles écrits par cet auteur



![]()
Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study
Trucco F, Ridout D, Scoto M, et al.
Neurology, 2020
Revue : Neurology Titre : Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study Type de document : Article Auteurs : Trucco F ; Ridout D ; Scoto M ; Coratti G ; Main ML ; Lofra RM ; Mayhew AG ; Montes J ; Pane M ; Sansone V ; Albamonte E ; D'Amico A ; Bertini E ; Messina S ; Bruno C ; Parasuraman D ; Childs AM ; Gowda V ; Willis T ; Ong M ; Marini-Bettolo C ; de Vivo DC ; Darras BT ; Day J ; Kichula EA ; Mayer OH ; Navas Nazario AA ; Finkel RS ; Mercuri E ; Muntoni F Editeur : United States Année de publication : 16/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33067401 / DOI : 10.1212/WNL.0000000000011051
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33067401 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Pinos T, Andreu AL, Bruno C, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 187
Revue : Orphanet journal of rare diseases, 15, 1 Titre : Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) Type de document : Article Auteurs : Pinos T ; Andreu AL ; Bruno C ; Hadjigeorgiou GM ; Haller RG ; Laforêt P ; Lucia A ; Martin MA ; Martinuzzi A ; Navarro C ; Oflazer P ; Pouget J ; Quinlivan R ; Sacconi S ; Scalco RS ; Toscano A ; Vissing J ; Vorgerd M ; Wakelin A ; Marti R Année de publication : 15/10/2020 Pages : p 187 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33054807 / DOI : 10.1186/s13023-020-01455-z
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33054807 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
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)
![]()
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
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
Pera MC, Coratti G, Berti B, et al.
PLoS ONE, 2020, 15, 3
Revue : PLoS ONE, 15, 3 Titre : Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? Type de document : Article Auteurs : Pera MC, Auteur ; Coratti G ; Berti B ; D'Amico A ; Sframeli M ; Albamonte E ; De Sanctis R ; Messina S ; Catteruccia M ; Brigati G ; Antonaci L ; Lucibello S ; Bruno C ; Sansone VA ; Bertini E ; Tiziano D ; Pane M ; Mercuri E Année de publication : 03/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32203538 / DOI : 10.1371/journal.pone.0230677
N° Profil MNM : 2020032 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32203538 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
![]()
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen
Sansone VA, Pirola A, Albamonte E, et al.
The Journal of pediatrics, 2020
Permalink![]()
Clinical Variability in Spinal Muscular Atrophy Type III
Coratti G, Messina S, Lucibello S, et al.
Annals of neurology, 2020
Permalink![]()
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Alonso-Perez J, Gonzalez-Quereda L, Bello L, et al.
Brain : a journal of neurology, 2020, 143, 9, p 2696
Permalink![]()
Sometimes they come back: new and old SMA adults in the era of nusinersen
Sansone VA, Coratti G, Pera MC, et al.
European journal of neurology, 2020
Permalink![]()
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
Permalink![]()
Genotype-phenotype correlations in recessive titinopathies
Savarese M, Vihola A, Oates EC, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
Permalink![]()
Gain and loss of abilities in type II SMA: A 12-month natural history study
Coratti G, Lucibello S, Pera MC, et al.
Neuromuscular disorders : NMD, 2020, 30, 9, p 765
Permalink![]()
'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene
D'Amico A, Fattori F, Fiorillo C, et al.
Neuromuscular disorders : NMD, 2019
Permalink![]()
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
Permalink![]()
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
Permalink![]()
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.
Pane M, Coratti G, Sansone VA, et al.
Annals of neurology, 2019
Permalink![]()
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
Permalink![]()
Italian recommendations for diagnosis and management of congenital myasthenic syndromes
Maggi L, Bernasconi P, D'Amico A, et al.
Neurological sciences, 2019, 40, 3, p 457
Permalink![]()
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
Permalink![]()
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function
Pane M, Palermo C, Messina S, et al.
Neuromuscular disorders : NMD, 2018
Permalink![]()
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
Permalink![]()
Clinical and molecular consequences of exon 78 deletion in DMD gene
Traverso M, Assereto S, Baratto S, et al.
Journal of human genetics, 2018
Permalink![]()
A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1" written by Pechmann and colleagues"
Sansone VA, Pane M, Messina S, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2018
Permalink![]()
Zidovudine ameliorates pathology in the mouse model of Duchenne muscular dystrophy via P2RX7 purinoceptor antagonism
Al-Khalidi R, Panicucci C, Cox P, et al.
Acta neuropathologica communications, 2018, 6, 1
Permalink![]()
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
Permalink