Detalhe da pesquisa
1.
The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Hum Mol Genet
; 25(8): 1559-73, 2016 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008887
2.
Elevated Expression of Moesin in Muscular Dystrophies.
Am J Pathol
; 187(3): 654-664, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28082118
3.
HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.
Am J Pathol
; 187(3): 505-516, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28056338
4.
Two novel COLVI long chains in zebrafish that are essential for muscle development.
Hum Mol Genet
; 24(23): 6624-39, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26362255
5.
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
Hum Mutat
; 36(1): 48-56, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25204870
6.
Natural history of pulmonary function in collagen VI-related myopathies.
Brain
; 136(Pt 12): 3625-33, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24271325
7.
Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A.
Hum Mol Genet
; 20(24): 4891-902, 2011 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21920942
8.
Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.
Hum Mol Genet
; 20(4): 694-704, 2011 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21131290
9.
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
J Neuromuscul Dis
; 10(1): 125-133, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36373293
10.
Early onset collagen VI myopathies: Genetic and clinical correlations.
Ann Neurol
; 68(4): 511-20, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20976770
11.
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers-Danlos syndrome that proved to be a COL1-related overlap disorder.
Clin Case Rep
; 9(9): e04128, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34484741
12.
Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene.
J Neuromuscul Dis
; 8(2): 273-285, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33337382
13.
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
J Neuromuscul Dis
; 8(4): 633-645, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749658
14.
Selenoprotein function and muscle disease.
Biochim Biophys Acta
; 1790(11): 1569-74, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19285112
15.
Antioxidants Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy.
Antioxidants (Basel)
; 9(3)2020 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32197453
16.
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy.
Hum Mutat
; 30(3): 411-6, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19067361
17.
Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors.
BMC Dev Biol
; 9: 46, 2009 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-19698141
18.
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
JCI Insight
; 4(6)2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30895940
19.
First molecular characterization and immunolocalization of keratoepithelin in adult human skeletal muscle.
Matrix Biol
; 27(4): 360-70, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18249103
20.
[A tribute to Jeannette Erdmann]. / Hommage à Jeanette Erdmann.
Med Sci (Paris)
; 39 Hors série n° 1: 72-73, 2023 11.
Artigo
em Francês
| MEDLINE | ID: mdl-37975777