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429 results

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Page 1
POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.
Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E. Messina S, et al. Among authors: pini a. Neuromuscul Disord. 2008 Jul;18(7):565-71. doi: 10.1016/j.nmd.2008.04.004. Epub 2008 Jun 2. Neuromuscul Disord. 2008. PMID: 18513969
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.
Clinical heterogeneity of adhalin deficiency.
Morandi L, Barresi R, Di Blasi C, Jung D, Sunada Y, Confalonieri V, Dworzak F, Mantegazza R, Antozzi C, Jarre L, Pini A, Gobbi G, Bianchi C, Cornelio F, Campbell KP, Mora M. Morandi L, et al. Among authors: pini a. Ann Neurol. 1996 Feb;39(2):196-202. doi: 10.1002/ana.410390209. Ann Neurol. 1996. PMID: 8967751
Concomitant deficiency of beta- and gamma-sarcoglycans in 20 alpha-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects.
Barresi R, Confalonieri V, Lanfossi M, Di Blasi C, Torchiana E, Mantegazza R, Jarre L, Nardocci N, Boffi P, Tezzon F, Pini A, Cornelio F, Mora M, Morandi L. Barresi R, et al. Among authors: pini a. Acta Neuropathol. 1997 Jul;94(1):28-35. doi: 10.1007/s004010050668. Acta Neuropathol. 1997. PMID: 9224527
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies.
Politano L, Nigro V, Passamano L, Petretta V, Comi LI, Papparella S, Nigro G, Rambaldi PF, Raia P, Pini A, Mora M, Giugliano MA, Esposito MG, Nigro G. Politano L, et al. Among authors: pini a. Neuromuscul Disord. 2001 Mar;11(2):178-85. doi: 10.1016/s0960-8966(00)00174-7. Neuromuscul Disord. 2001. PMID: 11257475
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study.
Mercuri E, Messina S, Battini R, Berardinelli A, Boffi P, Bono R, Bruno C, Carboni N, Cini C, Colitto F, D'Amico A, Minetti C, Mirabella M, Mongini T, Morandi L, Dlamini N, Orcesi S, Pelliccioni M, Pane M, Pini A, Swan AV, Villanova M, Vita G, Main M, Muntoni F, Bertini E. Mercuri E, et al. Among authors: pini a. Neuromuscul Disord. 2006 Feb;16(2):93-8. doi: 10.1016/j.nmd.2005.11.010. Epub 2006 Jan 20. Neuromuscul Disord. 2006. PMID: 16427782
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy.
Mercuri E, Bertini E, Messina S, Solari A, D'Amico A, Angelozzi C, Battini R, Berardinelli A, Boffi P, Bruno C, Cini C, Colitto F, Kinali M, Minetti C, Mongini T, Morandi L, Neri G, Orcesi S, Pane M, Pelliccioni M, Pini A, Tiziano FD, Villanova M, Vita G, Brahe C. Mercuri E, et al. Among authors: pini a. Neurology. 2007 Jan 2;68(1):51-5. doi: 10.1212/01.wnl.0000249142.82285.d6. Epub 2006 Nov 2. Neurology. 2007. PMID: 17082463 Clinical Trial.
The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.
Tiziano FD, Bertini E, Messina S, Angelozzi C, Pane M, D'Amico A, Alfieri P, Fiori S, Battini R, Berardinelli A, Boffi P, Bruno C, Cini C, Minetti C, Mongini T, Morandi L, Orcesi S, Pelliccioni M, Pini A, Villanova M, Vita G, Locatelli M, Mercuri E, Brahe C. Tiziano FD, et al. Among authors: pini a. Neuromuscul Disord. 2007 May;17(5):400-3. doi: 10.1016/j.nmd.2007.02.006. Epub 2007 Apr 12. Neuromuscul Disord. 2007. PMID: 17433677
429 results