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Auteur Merlini L |
Documents disponibles écrits par cet auteur (144)



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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
Revue : Frontiers in Genetics, 11 Titre : Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy Type de document : Article Auteurs : Passarelli C ; Selvatici R ; Carrieri A ; Di Raimo FR ; Falzarano MS ; Fortunato F ; Rossi R ; Straub V ; Bushby K ; Reza M ; Zharaieva I ; D'Amico A ; Bertini E ; Merlini L ; Sabatelli P ; Borgiani P ; Novelli G ; Messina S ; Pane M ; Mercuri E ; Claustres M ; Tuffery-Giraud S ; Aartsma-Rus A ; Spitali P ; T'Hoen PAC ; LochmÃOEller H ; Strandberg K ; Al-Khalili C ; Kotelnikova E ; Lebowitz M ; Schwartz E ; Muntoni F ; Scapoli C ; Ferlini A Année de publication : 07/2020 Pages : p 605 Langues : Anglais (eng) Lien associé : Texte complet disponible sur PubMed Central® (PMC) Pubmed / DOI : Pubmed : 32719714 / DOI : 10.3389/fgene.2020.00605
N° Profil MNM : 2020072 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32719714 Voir aussiAvis 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
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Cells, 9, 2 Titre : Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations Type de document : Article Auteurs : Antoniel M, Auteur ; Traina F ; Merlini L ; Andrenacci D ; Tigani D ; Santi S ; Cenni V ; Sabatelli P ; Faldini C ; Squarzoni S Editeur : Switzerland Année de publication : 02/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32053901 / DOI : 10.3390/cells9020409
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32053901 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Neurology, 95, 11 Titre : The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series Type de document : Article Auteurs : Villar-Quiles RN ; von der Hagen M ; Metay C ; Gonzalez V ; Donkervoort S ; Bertini E ; Castiglioni C ; Chaigne D ; Colomer J ; Cuadrado ML ; de Visser M ; Desguerre I ; Eymard B ; Goemans N ; Kaindl A ; Lagrue E ; Lütschg J ; Malfatti E ; Mayer M ; Merlini L ; Orlikowski D ; Reuner U ; Salih MA ; Schlotter-Weigel B ; Stoetter M ; Straub V ; Topaloglu H ; Urtizberea JA ; van der Kooi A ; Wilichowski E ; Romero NB ; Fardeau M ; Bonnemann CG ; Estournet B ; Richard P ; Quijano-Roy S ; Schara U ; Ferreiro A Editeur : United States Année de publication : 2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32796131 / DOI : 10.1212/WNL.0000000000010327
N° Profil MNM : 2020081 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32796131 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Skeletal Muscle, 9, n1 Titre : Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation. Type de document : Article Auteurs : Merlini L, Auteur ; Sabatelli P ; Antoniel M ; Carinci V ; Niro F ; Monetti G ; Torella A ; Giugliano T ; Faldini C ; Nigro V Editeur : England Année de publication : 05/2019 Pages : p 14 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 31133047 / DOI : 10.1186/s13395-019-0199-9
N° Profil MNM : 2019061 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31133047 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
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Tendon Extracellular Matrix Alterations in Ullrich Congenital Muscular Dystrophy
Sardone F, Traina F, Bondi A, et al.
frontiers in aging neuroscience, 2016, 8, 131
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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
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Improving clinical trial design for Duchenne muscular dystrophy
Merlini L, Sabatelli P
BMC neurology, 2015, 15
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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
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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
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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
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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
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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
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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.
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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
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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
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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
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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.
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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
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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
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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
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166th ENMC International Workshop on collagen type VI-related myopathies
Collectif, Merlini L, Bushby K
Neuromuscular disorders : NMD, 2010, 20, 5, p. 346-354
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Autosomal recessive Bethlem myopathy
Gualandi F, Urciuolo A, Martoni E, et al.
Neurology, 2009, 73, 22, p. 1883-1891
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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
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