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130 results

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Page 1
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy.
Pane M, Coratti G, Pera MC, Sansone VA, Messina S, d'Amico A, Bruno C, Salmin F, Albamonte E, De Sanctis R, Sframeli M, Di Bella V, Morando S, Palermo C, Frongia AL, Antonaci L, Capasso A, Catteruccia M, Longo A, Ricci M, Cutrona C, Pirola A, Bravetti C, Pedemonte M, Brolatti N, Bertini E, Mercuri E; Italian ISMAC group. Pane M, et al. Among authors: pedemonte m. Ann Clin Transl Neurol. 2022 Mar;9(3):404-409. doi: 10.1002/acn3.51514. Epub 2022 Feb 15. Ann Clin Transl Neurol. 2022. PMID: 35166467 Free PMC article.
Clinical and molecular findings in patients with giant axonal neuropathy (GAN).
Bruno C, Bertini E, Federico A, Tonoli E, Lispi ML, Cassandrini D, Pedemonte M, Santorelli FM, Filocamo M, Dotti MT, Schenone A, Malandrini A, Minetti C. Bruno C, et al. Among authors: pedemonte m. Neurology. 2004 Jan 13;62(1):13-6. doi: 10.1212/01.wnl.0000101676.41505.a7. Neurology. 2004. PMID: 14718689
Expanding the clinical spectrum of POMT1 phenotype.
D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM, Bertini E. D'Amico A, et al. Among authors: pedemonte m. Neurology. 2006 May 23;66(10):1564-7; discussion 1461. doi: 10.1212/01.wnl.0000216145.66476.36. Neurology. 2006. PMID: 16717220
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.
Pescatori M, Broccolini A, Minetti C, Bertini E, Bruno C, D'amico A, Bernardini C, Mirabella M, Silvestri G, Giglio V, Modoni A, Pedemonte M, Tasca G, Galluzzi G, Mercuri E, Tonali PA, Ricci E. Pescatori M, et al. Among authors: pedemonte m. FASEB J. 2007 Apr;21(4):1210-26. doi: 10.1096/fj.06-7285com. Epub 2007 Jan 30. FASEB J. 2007. PMID: 17264171
Phenotypic characterization of hypomyelination and congenital cataract.
Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C. Biancheri R, et al. Among authors: pedemonte m. Ann Neurol. 2007 Aug;62(2):121-7. doi: 10.1002/ana.21175. Ann Neurol. 2007. PMID: 17683097
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
Fiorillo C, Moro F, Brisca G, Astrea G, Nesti C, Bálint Z, Olschewski A, Meschini MC, Guelly C, Auer-Grumbach M, Battini R, Pedemonte M, Romano A, Menchise V, Biancheri R, Santorelli FM, Bruno C. Fiorillo C, et al. Among authors: pedemonte m. Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25. Neurogenetics. 2012. PMID: 22526352
Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.
Pane M, Mazzone ES, Fanelli L, De Sanctis R, Bianco F, Sivo S, D'Amico A, Messina S, Battini R, Scutifero M, Petillo R, Frosini S, Scalise R, Vita G, Bruno C, Pedemonte M, Mongini T, Pegoraro E, Brustia F, Gardani A, Berardinelli A, Lanzillotta V, Viggiano E, Cavallaro F, Sframeli M, Bello L, Barp A, Bonfiglio S, Rolle E, Colia G, Catteruccia M, Palermo C, D'Angelo G, Pini A, Iotti E, Gorni K, Baranello G, Morandi L, Bertini E, Politano L, Sormani M, Mercuri E. Pane M, et al. Among authors: pedemonte m. Neuromuscul Disord. 2014 Mar;24(3):201-6. doi: 10.1016/j.nmd.2013.11.014. Epub 2013 Dec 5. Neuromuscul Disord. 2014. PMID: 24440357 Free article.
The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys.
Pane M, Mazzone ES, Sivo S, Fanelli L, De Sanctis R, D'Amico A, Messina S, Battini R, Bianco F, Scutifero M, Petillo R, Frosini S, Scalise R, Vita GL, Bruno C, Pedemonte M, Mongini T, Pegoraro E, Brustia F, Gardani A, Berardinelli A, Lanzillotta V, Viggiano E, Cavallaro F, Sframeli M, Bello L, Barp A, Busato F, Bonfiglio S, Rolle E, Colia G, Bonetti A, Palermo C, Graziano A, D'Angelo G, Pini A, Corlatti A, Gorni K, Baranello G, Antonaci L, Bertini E, Politano L, Mercuri E. Pane M, et al. Among authors: pedemonte m. PLoS Curr. 2014 Oct 7;6:ecurrents.md.a93d9904d57dcb08936f2ea89bca6fe6. doi: 10.1371/currents.md.a93d9904d57dcb08936f2ea89bca6fe6. PLoS Curr. 2014. PMID: 25642376 Free PMC article.
130 results