Detalhe da pesquisa
1.
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
Am J Hum Genet
; 98(5): 1020-1029, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27153398
2.
Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.
J Med Genet
; 55(7): 469-478, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29563141
3.
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
Am J Hum Genet
; 93(4): 744-51, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24075187
4.
MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4.
Proc Natl Acad Sci U S A
; 110(51): 20783-8, 2013 Dec 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-24297891
5.
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
Am J Hum Genet
; 88(6): 796-804, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21596365
6.
Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice.
Brain
; 135(Pt 4): 1081-101, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22396395
7.
Human cortical spheroids with a high diversity of innately developing brain cell types.
Stem Cell Res Ther
; 14(1): 50, 2023 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36959625
8.
Modeling oculopharyngeal muscular dystrophy in myotube cultures reveals reduced accumulation of soluble mutant PABPN1 protein.
Am J Pathol
; 179(4): 1988-2000, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21854744
9.
Molecular Signature of Neuroinflammation Induced in Cytokine-Stimulated Human Cortical Spheroids.
Biomedicines
; 10(5)2022 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35625761
10.
Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies.
J Neuromuscul Dis
; 8(5): 801-814, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34024774
11.
Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.
Eur J Hum Genet
; 26(1): 94-106, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29162933
12.
Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.
Epigenetics
; 10(12): 1133-42, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26575099
13.
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
Nat Genet
; 44(12): 1370-4, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23143600
14.
Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.
Epigenetics
; 11(2): 175, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27058812
15.
A unifying genetic model for facioscapulohumeral muscular dystrophy.
Science
; 329(5999): 1650-3, 2010 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-20724583
16.
FRG1P-mediated aggregation of proteins involved in pre-mRNA processing.
Chromosoma
; 116(1): 53-64, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17103222