Mora M - Search Results

1

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.

Di Blasi C, Bellafiore E, Salih MA, Manzini MC, Moore SA, Seidahmed MZ, Mukhtar MM, Karrar ZA, Walsh CA, Campbell KP, Mantegazza R, Morandi L, Mora M. Di Blasi C, et al. Among authors: mora m. BMC Res Notes. 2011 Dec 13;4:534. doi: 10.1186/1756-0500-4-534. BMC Res Notes. 2011. PMID: 22166137 Free PMC article.

2

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

3

Severe congenital muscular dystrophy in a LAMA2-mutated case.

Di Blasi C, van Alfen N, Colleoni F, ter Laak H, Mora M. Di Blasi C, et al. Among authors: mora m. Pediatr Neurol. 2007 Sep;37(3):212-4. doi: 10.1016/j.pediatrneurol.2007.05.008. Pediatr Neurol. 2007. PMID: 17765811

4

Osteopontin is highly expressed in severely dystrophic muscle and seems to play a role in muscle regeneration and fibrosis.

Zanotti S, Gibertini S, Di Blasi C, Cappelletti C, Bernasconi P, Mantegazza R, Morandi L, Mora M. Zanotti S, et al. Among authors: mora m. Histopathology. 2011 Dec;59(6):1215-28. doi: 10.1111/j.1365-2559.2011.04051.x. Histopathology. 2011. PMID: 22175901

5

Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping.

Di Blasi C, He Y, Morandi L, Cornelio F, Guicheney P, Mora M. Di Blasi C, et al. Among authors: mora m. Brain. 2001 Apr;124(Pt 4):698-704. doi: 10.1093/brain/124.4.698. Brain. 2001. PMID: 11287370

6

Decorin and biglycan expression is differentially altered in several muscular dystrophies.

Zanotti S, Negri T, Cappelletti C, Bernasconi P, Canioni E, Di Blasi C, Pegoraro E, Angelini C, Ciscato P, Prelle A, Mantegazza R, Morandi L, Mora M. Zanotti S, et al. Among authors: mora m. Brain. 2005 Nov;128(Pt 11):2546-55. doi: 10.1093/brain/awh635. Epub 2005 Sep 23. Brain. 2005. PMID: 16183658

7

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

8

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

9

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.

Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC. Di Costanzo S, et al. Among authors: mora m. Hum Mol Genet. 2014 Nov 1;23(21):5781-92. doi: 10.1093/hmg/ddu296. Epub 2014 Jun 11. Hum Mol Genet. 2014. PMID: 24925318 Free PMC article.

10

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

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