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1.
A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.
J Med Genet
; 52(9): 617-26, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-26136523
2.
Osteopontin is highly expressed in severely dystrophic muscle and seems to play a role in muscle regeneration and fibrosis.
Histopathology
; 59(6): 1215-28, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22175901
3.
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
Hum Mutat
; 29(2): 258-66, 2008 Feb.
Article
in English
| MEDLINE | ID: mdl-17994539
4.
Danon disease: a novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression.
Neuromuscul Disord
; 18(12): 962-6, 2008 Dec.
Article
in English
| MEDLINE | ID: mdl-18990578
5.
Severe congenital muscular dystrophy in a LAMA2-mutated case.
Pediatr Neurol
; 37(3): 212-4, 2007 Sep.
Article
in English
| MEDLINE | ID: mdl-17765811
6.
Decorin and biglycan expression is differentially altered in several muscular dystrophies.
Brain
; 128(Pt 11): 2546-55, 2005 Nov.
Article
in English
| MEDLINE | ID: mdl-16183658
7.
LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.
Arch Neurol
; 62(10): 1582-6, 2005 Oct.
Article
in English
| MEDLINE | ID: mdl-16216942
8.
Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.
BMC Res Notes
; 4: 534, 2011 Dec 13.
Article
in English
| MEDLINE | ID: mdl-22166137
9.
Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy.
Neuromuscul Disord
; 20(5): 326-9, 2010 May.
Article
in English
| MEDLINE | ID: mdl-20211563
10.
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.
Eur J Paediatr Neurol
; 13(1): 72-6, 2009 Jan.
Article
in English
| MEDLINE | ID: mdl-18406646
11.
Abnormal lysosomal and ubiquitin-proteasome pathways in 19p13.3 distal myopathy.
Ann Neurol
; 56(1): 133-8, 2004 Jul.
Article
in English
| MEDLINE | ID: mdl-15236412
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