Di Blasi C - Search Results

1

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. Arch Neurol. 2005 Oct;62(10):1582-6. doi: 10.1001/archneur.62.10.1582. Arch Neurol. 2005. PMID: 16216942

2

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: di blasi c. Brain. 2005 Nov;128(Pt 11):2546-55. doi: 10.1093/brain/awh635. Epub 2005 Sep 23. Brain. 2005. PMID: 16183658

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. Pediatr Neurol. 2007 Sep;37(3):212-4. doi: 10.1016/j.pediatrneurol.2007.05.008. Pediatr Neurol. 2007. PMID: 17765811

4

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: di blasi c. Ann Neurol. 1996 Feb;39(2):196-202. doi: 10.1002/ana.410390209. Ann Neurol. 1996. PMID: 8967751

5

Clinical correlations in 16 patients with total or partial laminin alpha2 deficiency characterized using antibodies against 2 fragments of the protein.

Morandi L, Di Blasi C, Farina L, Sorokin L, Uziel G, Azan G, Pini A, Toscano A, Lanfossi M, Galbiati S, Cornelio F, Mora M. Morandi L, et al. Among authors: di blasi c. Arch Neurol. 1999 Feb;56(2):209-15. doi: 10.1001/archneur.56.2.209. Arch Neurol. 1999. PMID: 10025426

6

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. Brain. 2001 Apr;124(Pt 4):698-704. doi: 10.1093/brain/124.4.698. Brain. 2001. PMID: 11287370

7

Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy.

Di Blasi C, Moghadaszadeh B, Ciano C, Negri T, Giavazzi A, Cornelio F, Morandi L, Mora M. Di Blasi C, et al. Ann Neurol. 2004 Jul;56(1):133-8. doi: 10.1002/ana.20158. Ann Neurol. 2004. PMID: 15236412

8

LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.

Vigliano P, Dassi P, Di Blasi C, Mora M, Jarre L. Vigliano P, et al. Among authors: di blasi c. Eur J Paediatr Neurol. 2009 Jan;13(1):72-6. doi: 10.1016/j.ejpn.2008.01.010. Epub 2008 Apr 11. Eur J Paediatr Neurol. 2009. PMID: 18406646

9

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. 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

10

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. BMC Res Notes. 2011 Dec 13;4:534. doi: 10.1186/1756-0500-4-534. BMC Res Notes. 2011. PMID: 22166137 Free PMC article.

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