Detalhe da pesquisa
1.
Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophy.
Hum Mutat
; 43(9): 1234-1238, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35607917
2.
Disease progression and outcome measures in spinobulbar muscular atrophy.
Ann Neurol
; 84(5): 754-765, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30255951
3.
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
J Neurol Neurosurg Psychiatry
; 90(5): 576-585, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30530568
4.
Hypokalemic periodic paralysis: a 3-year follow-up study.
J Neurol
; 270(12): 6057-6063, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37656291
5.
Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants.
Front Neurol
; 12: 707837, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34539555
6.
Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants.
Front Neurol
; 12: 707838, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34385974
7.
Contractile properties are impaired in congenital myopathies.
Neuromuscul Disord
; 30(8): 649-655, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32675003
8.
Permanent muscle weakness in hypokalemic periodic paralysis.
Neurology
; 95(4): e342-e352, 2020 07 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32580975
9.
Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy.
Neurology
; 95(9): e1211-e1221, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32611642
10.
Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy.
Mitochondrion
; 50: 35-41, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31669236
11.
BAG3 myopathy is not always associated with cardiomyopathy.
Neuromuscul Disord
; 28(9): 798-801, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30061062