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Auteur Scoto M |
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Long-term follow-up of patients with Type 2 and non-ambulant Type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial
Muntoni F, Bertini E, Comi G, et al.
Neuromuscular disorders : NMD, 2020
Revue : Neuromuscular disorders : NMD Titre : Long-term follow-up of patients with Type 2 and non-ambulant Type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial Type de document : Article Auteurs : Muntoni F ; Bertini E ; Comi G ; Kirschner J ; Lusakowska A ; Mercuri E ; Scoto M ; Ludo van der Pol W ; Buroleska A ; El-Khairi M ; Fontoura P ; Ives J ; Gorni K ; Reid C ; Fuerst-Recktenwald S Année de publication : 04/11/2020 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1016/j.nmd.2020.10.008 / Pubmed : 33246887
N° Profil MNM : 2020121 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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)
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Spinal muscular atrophy - insights and challenges in the treatment era
Mercuri E, Pera MC, Scoto M, et al.
Nature reviews. Neurology, 2020
Revue : Nature reviews. Neurology Titre : Spinal muscular atrophy - insights and challenges in the treatment era Type de document : Article Auteurs : Mercuri E ; Pera MC ; Scoto M ; Finkel R ; Muntoni F Editeur : England Année de publication : 14/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33057172 / DOI : 10.1038/s41582-020-00413-4
N° Profil MNM : 2020102 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33057172 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials
Silwal A, Sarkozy A, Scoto M, et al.
Annals of clinical and translational neurology, 2020
Revue : Annals of clinical and translational neurology Titre : Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials Type de document : Article Auteurs : Silwal A ; Sarkozy A ; Scoto M ; Ridout D ; Schmidt A ; Laverty A ; Henriques M ; D'Argenzio L ; Main M ; Mein R ; Manzur AY ; Abel F ; Al-Ghamdi F ; Genetti CA ; Ardicli D ; Haliloglu G ; Topaloglu H ; Beggs AH ; Muntoni F Editeur : United States Année de publication : 10/10/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33037864 / DOI : 10.1002/acn3.51218
N° Profil MNM : 2020101 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33037864 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Clinical Variability in Spinal Muscular Atrophy Type III
Coratti G, Messina S, Lucibello S, et al.
Annals of neurology, 2020
Revue : Annals of neurology Titre : Clinical Variability in Spinal Muscular Atrophy Type III Type de document : Article Auteurs : Coratti G ; Messina S ; Lucibello S ; Pera MC ; Montes J ; Pasternak A ; Bovis F ; Exposito Escudero J ; Mazzone ES ; Mayhew A ; Glanzman AM ; Young SD ; Salazar R ; Duong T ; Muni Lofra R ; De Sanctis R ; Carnicella S ; Milev E ; Civitello M ; Pane M ; Scoto M ; Bettolo CM ; Antonaci L ; Frongia A ; Sframeli M ; Vita GL ; D'Amico A ; van den Hauwe M ; Albamonte E ; Goemans N ; Darras BT ; Bertini E ; Sansone V ; Day J ; Nascimento Osorio A ; Bruno C ; Muntoni F ; de Vivo DC ; Finkel RS ; Mercuri E Editeur : United States Année de publication : 2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32926458 / DOI : 10.1002/ana.25900
N° Profil MNM : 2020092 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32926458 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
Spitali P, Zaharieva I, Böhringer S, et al.
European journal of human genetics : EJHG, 2020
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Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
Sframeli M, Sarkozy A, Bertoli M, et al.
Neuromuscular disorders : NMD, 2020, 27, 9, p 793
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Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen
Aragon-Gawinska K, Daron A, Ulinici A, et al.
Developmental medicine and child neurology, 2019
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Development of an academic disease registry for spinal muscular atrophy
Mercuri E, Finkel R, Scoto M, et al.
Neuromuscular disorders : NMD, 2019
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Revised upper limb module for spinal muscular atrophy: 12 month changes
Pera MC, Coratti G, Mazzone ES, et al.
Muscle & Nerve, 2019, 59, 4, p 426
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Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: A cohort study.
Aragon-Gawinska K, Seferian AM, Daron A, et al.
Neurology, 2018, e1312
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Genetic therapies for inherited neuromuscular disorders
Scoto M, Finkel R, Mercuri E, et al.
The Lancet. Child & adolescent health, 2018, 2, 8, p 600
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Ambulatory function in spinal muscular atrophy: Age-related patterns of progression
Montes J, McDermott MP, Mirek E, et al.
PLoS ONE, 2018, 13, 6
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Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function
Salazar R, Salazar R, Montes J, et al.
Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association, 2018, 30, 3, p 209
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Therapeutic approaches for spinal muscular atrophy (SMA)
Scoto M, Finkel RS, Mercuri E, et al.
Gene therapy, 2017, 24, 9, p 514
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Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
Sframeli M, Sarkozy A, Bertoli M, et al.
Neuromuscular disorders : NMD, 2017, 27, 9, p 793
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Dystrophinopathies and Limb-Girdle Muscular Dystrophies
Domingos J, Sarkozy A, Scoto M, et al.
Neuropediatrics, 2017, 48, 4, p 262
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Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool
Ramsey D, Scoto M, Mayhew A, et al.
PLoS ONE, 2017, 12, 2
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Altered Levels of MicroRNA-9, -206, and -132 in Spinal Muscular Atrophy and Their Response to Antisense Oligonucleotide Therapy
Catapano F, Zaharieva I, Scoto M, et al.
Molecular therapy. Nucleic acids, 2016, 5, 7
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Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials
Mercuri E, Finkel R, Montes J, et al.
Neuromuscular disorders : NMD, 2016, 26, 2, p 126
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Neurodevelopmental, emotional, and behavioural problems in Duchenne muscular dystrophy in relation to underlying dystrophin gene mutations.
Ricotti V, Mandy WP, Scoto M, et al.
Developmental medicine and child neurology, 2015, Epub, p. 1-8
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Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
Rossor AM, Oates EC, Salter HK, et al.
Brain : a journal of neurology, 2015, 138, Pt 2, p 293
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Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants
van den Bergen JC, Hiller M, Böhringer S, et al.
Journal of neurology, neurosurgery, and psychiatry, 2015, 86, 10, p 1060
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Congenital myopathies : Natural history of a large pediatric cohort
Colombo I, Scoto M, Manzur AY, et al.
Neurology, 2015, 84, 1, p 28
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Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy
Scoto M, Rossor AM, Harms MB, et al.
Neurology, 2015, 84, 7, p 668
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