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Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy
Passarelli C, Selvatici R, Carrieri A, et al.
Frontiers in Genetics, 2020, 11, p 605
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
Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations
Antoniel M, Traina F, Merlini L, et al.
Cells, 2020, 9, 2
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series
Villar-Quiles RN, von der Hagen M, Metay C, et al.
Neurology, 2020, 95, 11
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.
Merlini L, Sabatelli P, Antoniel M, et al.
Skeletal Muscle, 2019, 9, n1, p 14
Autophagy activation in COL6 myopathic patients by a low-protein-diet pilot trial
Castagnaro S, Pellegrini C, Pellegrini M, et al.
Autophagy, 2016, 12, 12, p 2484
Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy
Sardone F, Traina F, Bondi A, et al.
frontiers in aging neuroscience, 2016, 8, 131
Deep RNA profiling identified clock and molecular clock genes as pathophysiological signatures in collagen VI myopathy
Scotton C, Bovolenta M, Schwartz E, et al.
Journal of cell science, 2016, 129, 8, p 1671
Improving clinical trial design for Duchenne muscular dystrophy
Merlini L, Sabatelli P
BMC neurology, 2015, 15
NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models
Zulian A, Rizzo E, Schiavone M, et al.
Human molecular genetics, 2014, 23, 20, p 5353
Autophagy in muscular dystrophies - Translational approach : Actes de colloque - 201st ENMC International Workshop - 1-3 November 2013 Bussum, The Netherlands
Merlini L, Nishino I, Consortium for Autophagy in Muscular Dystrophies
Neuromuscular disorders : NMD, 2014, 24, 6, p 546
Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy
Miscione MT, Bruno F, Ripamonti C, et al.
Scientific World Journal, 2013, 152684
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
Brioschi S, Gualandi F, Scotton C, et al.
BioMed Central medical genetics, 2012, 13, 1, 73, p. 1-15
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy
Böhm J, Biancalana V, DeChene ET, et al.
Human mutation, 2012, 33, 6, p. 949-959
Persistent dystrophin protein restoration 90 days after a course of intraperitoneally administered naked 2'OMePS AON and ZM2 NP-AON complexes in mdx mice
Bassi E, Falzarano S, Fabris M, et al.
Journal of biomedicine and biotechnology, 2012, 2012, 897076, 8 p.
Early corticosteroid treatment in 4 Duchenne muscular dystrophy patients : 14-year follow-up
Merlini L, Gennari M, Malaspina E, et al.
Muscle & Nerve, 2012, 45, 6, p. 796-802
The prevalence and impact of scoliosis in Pompe disease : lessons learned from the Pompe Registry
Robert M, Kishnani PS, van der Ploeg AT, et al.
Molecular genetics and metabolism, 2011, 104, 4, p. 574-582
Pompe disease : design, methodology, and early findings from the Pompe Registry
Byrne BJ, Kishnani PS, Case LE, et al.
Molecular genetics and metabolism, 2011, Epub ahead of print 2011 Mar 23, p. 1-11
Cyclosporine a in Ullrich congenital muscular dystrophy : long-term results
Merlini L, Sabatelli P, Armaroli A, et al.
Oxidative medicine and cellular longevity, 2011, 2011, ID. 139194, 10 p.
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration
Grumati P, Coletto L, Sabatelli P, et al.
Nature medicine, 2010, 16, 11, p. 1313-1321
Dystrophin restoration in skeletal, heart and skin arrector pili smooth muscle of mdx mice by ZM2 NP-AON complexes
Ferlini A, Sabatelli P, Fabris M, et al.
Gene therapy, 2010, 17, 3, p. 432-438
Early onset collagen VI myopathies: genetic and clinical correlations
Brinas L, Richard P, Quijano-Roy S, et al.
Annals of neurology, 2010, 68, 4, p 511
166th ENMC International Workshop on collagen type VI-related myopathies
Collectif, Merlini L, Bushby K
Neuromuscular disorders : NMD, 2010, 20, 5, p. 346-354
Autosomal recessive Bethlem myopathy
Gualandi F, Urciuolo A, Martoni E, et al.
Neurology, 2009, 73, 22, p. 1883-1891
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse
Rimessi P, Sabatelli P, Fabris M, et al.
Molecular therapy, 2009, 17, 5, p. 820-827
