Detalhe da pesquisa
1.
FSHD muscle shows perturbation in fibroadipogenic progenitor cells, mitochondrial function and alternative splicing independently of inflammation.
Hum Mol Genet
; 33(2): 182-197, 2024 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37856562
2.
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Brain
; 147(2): 414-426, 2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37703328
3.
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
Hum Mol Genet
; 31(5): 748-760, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559225
4.
Effectiveness of an outpatient rehabilitation programme in patients with neuralgic amyotrophy and scapular dyskinesia: a randomised controlled trial.
J Neurol Neurosurg Psychiatry
; 94(6): 474-481, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36697215
5.
Three-dimensional quantitative muscle ultrasound in patients with facioscapulohumeral dystrophy and myotonic dystrophy.
Muscle Nerve
; 68(4): 432-438, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37497843
6.
Myotonic dystrophy type 1: A comparison between the adult- and late-onset subtype.
Muscle Nerve
; 67(2): 130-137, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36484161
7.
An evaluation of 24 h Holter monitoring in patients with myotonic dystrophy type 1.
Europace
; 25(1): 156-163, 2023 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35851806
8.
Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene.
J Med Genet
; 59(2): 180-188, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33436523
9.
Semi-automated Rasch analysis with differential item functioning.
Behav Res Methods
; 55(6): 3129-3148, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36070131
10.
Muscle cramps and contractures: causes and treatment.
Pract Neurol
; 23(1): 23-34, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36522175
11.
KBTBD13 is a novel cardiomyopathy gene.
Hum Mutat
; 43(12): 1860-1865, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36335629
12.
Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood.
BMC Med
; 20(1): 395, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36352383
13.
Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Clin Genet
; 101(2): 149-160, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34297364
14.
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Acta Neuropathol
; 144(6): 1157-1170, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36197469
15.
Neurological features of Noonan syndrome and related RASopathies: Pain and nerve enlargement characterized by nerve ultrasound.
Am J Med Genet A
; 188(6): 1801-1807, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35258168
16.
Reachable workspace analysis is a potential measurement for impairment of the upper extremity in neuralgic amyotrophy.
Muscle Nerve
; 66(3): 282-288, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35665519
17.
Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole-body fat-referenced MRI: Protocol development, multicenter feasibility, and repeatability.
Muscle Nerve
; 66(2): 183-192, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35585766
18.
Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy.
Muscle Nerve
; 66(4): 453-461, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35859342
19.
Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1).
Int J Mol Sci
; 23(6)2022 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35328504
20.
Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development.
Hum Mol Genet
; 28(7): 1064-1075, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30445587