Detalhe da pesquisa
1.
Dysferlin links excitation-contraction coupling to structure and maintenance of the cardiac transverse-axial tubule system.
Europace
; 22(7): 1119-1131, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32572487
2.
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy.
J Cell Sci
; 130(5): 841-852, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28104817
3.
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
Hum Mol Genet
; 24(22): 6278-92, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307083
4.
Treatment with human immunoglobulin G improves the early disease course in a mouse model of Duchenne muscular dystrophy.
J Neurochem
; 136(2): 351-62, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26230042
5.
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Hum Mutat
; 35(7): 779-90, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24692096
6.
Motor performance of young dystrophic mdx mice treated with long-circulating prednisolone liposomes.
J Neurosci Res
; 90(5): 1067-77, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22253213
7.
A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy.
Am J Med Genet A
; 158A(2): 429-33, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22246919
8.
A common MLP (muscle LIM protein) variant is associated with cardiomyopathy.
Circ Res
; 106(4): 695-704, 2010 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-20044516
9.
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy.
Hum Mol Genet
; 18(11): 1976-89, 2009 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19286669
10.
New aspects on patients affected by dysferlin deficient muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 81(9): 946-53, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19528035
11.
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle.
Muscle Nerve
; 41(2): 166-73, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20082313
12.
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Neuromuscul Disord
; 18(12): 934-41, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18996010
13.
From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis.
FASEB J
; 21(8): 1768-76, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17363620
14.
Severe phenotype in infantile facioscapulohumeral muscular dystrophy.
Neuromuscul Disord
; 16(9-10): 553-8, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16934468
15.
From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.
Mitochondrion
; 21: 12-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25583628
16.
Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport?
Pediatr Neurol
; 29(4): 321-5, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-14643395
17.
Effects of bioturbation on the fate of oil in coastal sandy sediments--an in situ experiment.
Chemosphere
; 82(10): 1358-66, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21186046
18.
Severe Fusobacteria infections (Lemierre syndrome) in two boys.
Eur J Pediatr
; 161(11): 616-8, 2002 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-12424589