Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy.
Muscle Nerve
; 63(1): 60-67, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32959362
5.
Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy.
Int J Mol Sci
; 21(17)2020 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32842713
6.
Monitoring creatine and phosphocreatine by (13)C MR spectroscopic imaging during and after (13)C4 creatine loading: a feasibility study.
Amino Acids
; 48(8): 1857-66, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27401085
7.
What's in a name? The clinical features of facioscapulohumeral muscular dystrophy.
Pract Neurol
; 16(3): 201-7, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26862222
8.
Nerve ultrasound for distinguishing inflammatory neuropathy from amyotrophic lateral sclerosis: Not black and white.
Muscle Nerve
; 61(6): E33-E37, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32129899
9.
A novel KCNA1 mutation causing episodic ataxia type I.
Muscle Nerve
; 50(2): 289-91, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24639406
10.
An up-to-date myopathologic characterisation of facioscapulohumeral muscular dystrophy type 1 muscle biopsies shows sarcolemmal complement membrane attack complex deposits and increased skeletal muscle regeneration.
Neuromuscul Disord
; 36: 6-15, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38306719
11.
Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.
BMC Neurol
; 13: 144, 2013 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-24119284
12.
The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins.
Skelet Muscle
; 13(1): 5, 2023 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36882853
13.
Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers.
Sci Rep
; 12(1): 1426, 2022 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35082321
14.
Correlation Between Quantitative MRI and Muscle Histopathology in Muscle Biopsies from Healthy Controls and Patients with IBM, FSHD and OPMD.
J Neuromuscul Dis
; 7(4): 495-504, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32925090
15.
Preserved single muscle fiber specific force in facioscapulohumeral muscular dystrophy.
Neurology
; 94(11): e1157-e1170, 2020 03 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31964688
16.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
J Clin Invest
; 130(2): 754-767, 2020 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31671076
17.
Muscle fiber dysfunction contributes to weakness in inclusion body myositis.
Neuromuscul Disord
; 29(6): 468-476, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31101463
18.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
J Clin Invest
; 134(3)2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38299595
19.
Computer-aided detection of fasciculations and other movements in muscle with ultrasound: Development and clinical application.
Clin Neurophysiol
; 129(12): 2567-2576, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414527
20.
Specific muscle strength is reduced in facioscapulohumeral dystrophy: An MRI based musculoskeletal analysis.
Neuromuscul Disord
; 28(3): 238-245, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29395674