Mora M - Search Results

1

A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.

Di Blasi C, Sansanelli S, Ruggieri A, Moriggi M, Vasso M, D'Adamo AP, Blasevich F, Zanotti S, Paolini C, Protasi F, Tezzon F, Gelfi C, Morandi L, Pessia M, Mora M. Di Blasi C, et al. Among authors: mora m. J Med Genet. 2015 Sep;52(9):617-26. doi: 10.1136/jmedgenet-2014-102882. Epub 2015 Jul 1. J Med Genet. 2015. PMID: 26136523

2

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.

Ardissone A, Bragato C, Caffi L, Blasevich F, Maestrini S, Bianchi ML, Morandi L, Moroni I, Mora M. Ardissone A, et al. Among authors: mora m. BMC Med Genet. 2013 Sep 11;14:89. doi: 10.1186/1471-2350-14-89. BMC Med Genet. 2013. PMID: 24024685 Free PMC article.

3

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M. Di Blasi C, et al. Among authors: mora m. Arch Neurol. 2005 Oct;62(10):1582-6. doi: 10.1001/archneur.62.10.1582. Arch Neurol. 2005. PMID: 16216942

4

Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.

Di Blasi C, Jarre L, Blasevich F, Dassi P, Mora M. Di Blasi C, et al. Among authors: mora m. Neuromuscul Disord. 2008 Dec;18(12):962-6. doi: 10.1016/j.nmd.2008.09.008. Epub 2008 Nov 5. Neuromuscul Disord. 2008. PMID: 18990578

5

Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement.

Saredi S, Ruggieri A, Mottarelli E, Ardissone A, Zanotti S, Farina L, Morandi L, Mora M, Moroni I. Saredi S, et al. Among authors: mora m. Muscle Nerve. 2009 Jun;39(6):845-8. doi: 10.1002/mus.21271. Muscle Nerve. 2009. PMID: 19396839

6

Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy.

Di Blasi C, Blasevich F, Bellafiore E, Mottarelli E, Gibertini S, Zanotti S, Saredi S, Mantegazza R, Morandi L, Mora M. Di Blasi C, et al. Among authors: mora m. Neuromuscul Disord. 2010 May;20(5):326-9. doi: 10.1016/j.nmd.2010.02.003. Epub 2010 Mar 7. Neuromuscul Disord. 2010. PMID: 20211563

7

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.

Böhm J, Chevessier F, Koch C, Peche GA, Mora M, Morandi L, Pasanisi B, Moroni I, Tasca G, Fattori F, Ricci E, Pénisson-Besnier I, Nadaj-Pakleza A, Fardeau M, Joshi PR, Deschauer M, Romero NB, Eymard B, Laporte J. Böhm J, et al. Among authors: mora m. J Med Genet. 2014 Dec;51(12):824-33. doi: 10.1136/jmedgenet-2014-102623. Epub 2014 Oct 17. J Med Genet. 2014. PMID: 25326555

8

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

Ruggieri A, Brancati F, Zanotti S, Maggi L, Pasanisi MB, Saredi S, Terracciano C, Antozzi C, D Apice MR, Sangiuolo F, Novelli G, Marshall CR, Scherer SW, Morandi L, Federici L, Massa R, Mora M, Minassian BA. Ruggieri A, et al. Among authors: mora m. Acta Neuropathol Commun. 2015 Jul 25;3:44. doi: 10.1186/s40478-015-0224-0. Acta Neuropathol Commun. 2015. PMID: 26205529 Free PMC article.

9

DMD and BMD in the same family due to distinct mutations.

Morandi L, Mora M, Tedeschi S, Di Blasi C, Curcio C, De Leonardis P, Brugnoni R, Bernasconi P, Mantegazza R, Confalonieri V, et al. Morandi L, et al. Among authors: mora m. Am J Med Genet. 1995 Dec 4;59(4):501-5. doi: 10.1002/ajmg.1320590418. Am J Med Genet. 1995. PMID: 8585572

10

Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations.

Barresi R, Di Blasi C, Negri T, Brugnoni R, Vitali A, Felisari G, Salandi A, Daniel S, Cornelio F, Morandi L, Mora M. Barresi R, et al. Among authors: mora m. J Med Genet. 2000 Feb;37(2):102-7. doi: 10.1136/jmg.37.2.102. J Med Genet. 2000. PMID: 10662809 Free PMC article.

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