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414 results

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Page 1
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: pini a. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
Prevalence of congenital muscular dystrophy in Italy: a population study.
Graziano A, Bianco F, D'Amico A, Moroni I, Messina S, Bruno C, Pegoraro E, Mora M, Astrea G, Magri F, Comi GP, Berardinelli A, Moggio M, Morandi L, Pini A, Petillo R, Tasca G, Monforte M, Minetti C, Mongini T, Ricci E, Gorni K, Battini R, Villanova M, Politano L, Gualandi F, Ferlini A, Muntoni F, Santorelli FM, Bertini E, Pane M, Mercuri E. Graziano A, et al. Among authors: pini a. Neurology. 2015 Mar 3;84(9):904-11. doi: 10.1212/WNL.0000000000001303. Epub 2015 Feb 4. Neurology. 2015. PMID: 25653289 Free PMC article.
Brain diffusion-weighted imaging in Friedreich's ataxia.
Rizzo G, Tonon C, Valentino ML, Manners D, Fortuna F, Gellera C, Pini A, Ghezzo A, Baruzzi A, Testa C, Malucelli E, Barbiroli B, Carelli V, Lodi R. Rizzo G, et al. Among authors: pini a. Mov Disord. 2011 Mar;26(4):705-12. doi: 10.1002/mds.23518. Epub 2011 Mar 2. Mov Disord. 2011. PMID: 21370259
Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.
Pane M, Messina S, Vasco G, Foley AR, Morandi L, Pegoraro E, Mongini T, D'Amico A, Bianco F, Lombardo ME, Scalise R, Bruno C, Berardinelli A, Pini A, Moroni I, Mora M, Toscano A, Moggio M, Comi G, Santorelli FM, Bertini E, Muntoni F, Mercuri E. Pane M, et al. Among authors: pini a. Neuromuscul Disord. 2012 Aug;22(8):685-9. doi: 10.1016/j.nmd.2012.05.006. Epub 2012 Jun 22. Neuromuscul Disord. 2012. PMID: 22727687 Free PMC article.
Management of motor rehabilitation in individuals with muscular dystrophies. 1st Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Rome, January 25-26, 2019).
Lombardo ME, Carraro E, Sancricca C, Armando M, Catteruccia M, Mazzone E, Ricci G, Salamino F, Santorelli FM, Filosto M; UILDM (Italian Muscular Dystrophy Association) and Italian Consensus Conference Group on motor rehabilitation in muscular dystrophy. Lombardo ME, et al. Acta Myol. 2021 Jun 30;40(2):72-87. doi: 10.36185/2532-1900-046. eCollection 2021 Jun. Acta Myol. 2021. PMID: 34355124 Free PMC article.
Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
Sabbatini D, Fusto A, Vianello S, Villa M, Janik J, D'Angelo G, Diella E, Magri F, Comi GP, Panicucci C, Bruno C, D'Amico A, Bertini E, Astrea G, Battini R, Politano L, Masson R, Baranello G, Previtali SC, Messina S, Vita G, Berardinelli A, Mongini T, Pini A, Pane M, Mercuri E, Hoffman EP, Morgenroth L, Gordish-Dressman H, Duong T, McDonald CM, Bello L, Pegoraro E. Sabbatini D, et al. Among authors: pini a. J Neurol. 2022 Sep;269(9):4884-4894. doi: 10.1007/s00415-022-11133-8. Epub 2022 May 5. J Neurol. 2022. PMID: 35513612 Free PMC article.
Deflazacort in Duchenne dystrophy: study of long-term effect.
Angelini C, Pegoraro E, Turella E, Intino MT, Pini A, Costa C. Angelini C, et al. Among authors: pini a. Muscle Nerve. 1994 Apr;17(4):386-91. doi: 10.1002/mus.880170405. Muscle Nerve. 1994. PMID: 8170484 Clinical Trial.
414 results