Detalhe da pesquisa
1.
Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1.
J Med Genet
; 51(12): 824-33, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326555
2.
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.
Hum Mol Genet
; 21(20): 4473-85, 2012 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22798622
3.
Variable phenotype of del45-55 Becker patients correlated with nNOSµ mislocalization and RYR1 hypernitrosylation.
Hum Mol Genet
; 21(15): 3449-60, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22589245
4.
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Hum Mutat
; 34(8): 1111-8, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606453
5.
A myopathy-related actin mutation increases contractile function.
Acta Neuropathol
; 123(5): 739-46, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22358459
6.
Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy.
FASEB J
; 25(6): 1903-13, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21350120
7.
Early onset collagen VI myopathies: Genetic and clinical correlations.
Ann Neurol
; 68(4): 511-20, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20976770
8.
Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing.
J Med Genet
; 47(12): 795-6, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20930056
9.
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).
Neuromuscul Disord
; 18(12): 922-8, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18948003
10.
Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.
Am J Med Genet A
; 146A(4): 464-7, 2008 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18203194
11.
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
Eur J Hum Genet
; 15(10): 1054-62, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17609673
12.
Diagnosis of myotubular myopathy in the oldest known manifesting female carrier: a clinical and genetic study.
Neuromuscul Disord
; 17(2): 180-5, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17251023
13.
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.
Neuromuscul Disord
; 17(4): 330-7, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17376686
14.
Myotilinopathy in a family with late onset myopathy.
Neuromuscul Disord
; 16(7): 427-31, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16793270
15.
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.
Eur J Hum Genet
; 23(7): 929-34, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25351777
16.
Compound heterozygous mutations of the TNXB gene cause primary myopathy.
Neuromuscul Disord
; 23(8): 664-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23768946
17.
HTLV-1-associated inflammatory myopathies: low proviral load and moderate inflammation in 13 patients from West Indies and West Africa.
J Clin Virol
; 57(1): 70-6, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23375238
18.
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia.
Neuromuscul Disord
; 19(5): 316-23, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19364651
19.
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
Neuromuscul Disord
; 19(5): 324-9, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19327992
20.
Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis.
J Neurol
; 259(9): 1988-90, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22527239