Detalhe da pesquisa
1.
Toll-like receptors and IL-7 as potential biomarkers for immune-mediated necrotizing myopathies.
Eur J Immunol
; 53(11): e2250326, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37562045
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.
Sporadic Inclusion Body Myositis at the Crossroads between Muscle Degeneration, Inflammation, and Aging.
Int J Mol Sci
; 25(5)2024 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38473988
4.
Advanced Cellular Models for Rare Disease Study: Exploring Neural, Muscle and Skeletal Organoids.
Int J Mol Sci
; 25(2)2024 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38256087
5.
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
6.
A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.
Clin Genet
; 104(6): 705-710, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37553249
7.
Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.
Int J Mol Sci
; 24(14)2023 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511242
8.
Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.
Eur J Neurosci
; 56(3): 4214-4223, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35666680
9.
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.
Muscle Nerve
; 64(5): 567-575, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34368974
10.
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.
Brain
; 143(2): 452-466, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32040565
11.
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Neurol Sci
; 42(7): 2819-2827, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170376
12.
Benign acute viral myositis in African migrants: A clinical, serological, and pathological study.
Muscle Nerve
; 60(5): 586-590, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31443116
13.
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.
Hum Mutat
; 38(12): 1761-1773, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28895244
14.
Evidence for caspase-dependent programmed cell death along with repair processes in affected skeletal muscle fibres in patients with mitochondrial disorders.
Clin Sci (Lond)
; 130(3): 167-81, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26527739
15.
Immunoblot as a potential diagnostic tool for myofibrillar myopathies.
Electrophoresis
; 36(24): 3097-100, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26383991
16.
Abnormal expression of RNA polymerase II-associated proteins in muscle of patients with myofibrillar myopathies.
Histopathology
; 67(6): 859-65, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25891782
17.
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
Hum Mutat
; 35(10): 1163-70, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25116801
18.
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers.
Mol Genet Metab
; 110(1-2): 162-9, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23911890
19.
Levofloxacin-induced hemichorea-hemiballism in a patient with previous thalamic infarction.
Neurol Sci
; 39(8): 1483-1485, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29511961
20.
Increased protein nitration in mitochondrial diseases: evidence for vessel wall involvement.
Mol Cell Proteomics
; 10(4): M110.002964, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21156839