Detalhe da pesquisa
1.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Brain
; 144(2): 584-600, 2021 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33559681
2.
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Ann Neurol
; 88(2): 332-347, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32403198
3.
P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.
Hum Mol Genet
; 26(12): 2207-2217, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28419360
4.
Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.
Muscle Nerve
; 55(2): 277-281, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27348394
5.
Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.
Hum Mol Genet
; 23(9): 2339-52, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24334604
6.
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
Hum Mol Genet
; 23(9): 2353-63, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24334769
7.
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
Am J Hum Genet
; 90(2): 201-16, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265013
8.
Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.
Hum Mutat
; 34(11): 1558-67, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24038877
9.
Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin.
Med
; 4(4): 245-251.e3, 2023 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905929
10.
Collagen type VI regulates TGFß bioavailability in skeletal muscle.
bioRxiv
; 2023 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38586035
11.
Loss of fibulin-2 protects against progressive ventricular dysfunction after myocardial infarction.
J Mol Cell Cardiol
; 52(1): 273-82, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22100229
12.
Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.
Ann Neurol
; 69(1): 206-11, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21280092
13.
Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.
J Biol Chem
; 285(13): 10005-10015, 2010 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20106987
14.
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.
J Clin Invest
; 118(3): 904-12, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18274675
15.
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
Brain
; 132(Pt 2): 452-64, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19181672
16.
Dominant collagen XII mutations cause a distal myopathy.
Ann Clin Transl Neurol
; 6(10): 1980-1988, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31509352
17.
Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem.
J Neuropathol Exp Neurol
; 67(2): 144-54, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18219255
18.
MRI in DNM2-related centronuclear myopathy: evidence for highly selective muscle involvement.
Neuromuscul Disord
; 17(1): 28-32, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17134899
19.
Characterization of Key Factors of Anchovy (Engraulis japonicus) Meat in the Nanoparticle-Mediated Enhancement of Non-Heme Iron Absorption.
J Agric Food Chem
; 65(51): 11212-11219, 2017 Dec 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29199426
20.
Congenital muscular dystrophies and the extracellular matrix.
Semin Pediatr Neurol
; 13(2): 80-9, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17027857