Detalhe da pesquisa
1.
Mosaicism in Human Health and Disease.
Annu Rev Genet
; 54: 487-510, 2020 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32916079
2.
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy.
BMC Musculoskelet Disord
; 25(1): 35, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38183077
3.
The FSHD jigsaw: are we placing the tiles in the right position?
Curr Opin Neurol
; 36(5): 455-463, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37338810
4.
De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy.
Clin Genet
; 103(2): 242-246, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36250762
5.
Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients.
Neurol Sci
; 44(11): 4057-4064, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37311950
6.
Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy.
Eur J Appl Physiol
; 121(6): 1617-1629, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33646424
7.
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
Int J Mol Sci
; 21(7)2020 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32290091
8.
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy.
Muscle Nerve
; 59(6): 711-713, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30895627
9.
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
Am J Hum Genet
; 90(4): 628-35, 2012 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22482803
10.
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1).
Am J Physiol Regul Integr Comp Physiol
; 306(2): R124-37, 2014 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24305066
11.
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
Brain
; 136(Pt 11): 3408-17, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24030947
12.
An integrated approach in a case of facioscapulohumeral dystrophy.
BMC Musculoskelet Disord
; 15: 155, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886582
13.
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling.
J Med Genet
; 49(3): 171-8, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22217918
14.
Factors predicting disease progression in C9ORF72 ALS patients.
J Neurol
; 270(2): 877-890, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36280624
15.
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Genes (Basel)
; 14(2)2023 01 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833224
16.
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.
Hum Mol Genet
; 19(16): 3114-23, 2010 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20504995
17.
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1.
Nature
; 439(7079): 973-7, 2006 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-16341202
18.
Effects of creatine and exercise on skeletal muscle of FRG1-transgenic mice.
Can J Neurol Sci
; 39(2): 225-31, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22343158
19.
RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1).
Mol Ther
; 19(11): 2048-54, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21730972
20.
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach.
Health Sci Rep
; 5(3): e614, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35509380