Détail de l'auteur
Documents disponibles écrits par cet auteur
trié(s) par (Pertinence décroissant(e), Date de parution décroissant(e), Date de parution décroissant(e), Système de projection du document croissant(e)) Mettre toutes les notices dans le panier Faire une suggestion Ajouter un critère de recherche
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
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
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
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
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?
Pera MC, Coratti G, Berti B, et al.
PLoS ONE, 2020, 15, 3
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
Clinical Variability in Spinal Muscular Atrophy Type III
Coratti G, Messina S, Lucibello S, et al.
Annals of neurology, 2020
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
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
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
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
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
'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
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
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
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.
Pane M, Coratti G, Sansone VA, et al.
Annals of neurology, 2019
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
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
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
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
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
Clinical and molecular consequences of exon 78 deletion in DMD gene
Traverso M, Assereto S, Baratto S, et al.
Journal of human genetics, 2018
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
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
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
