Detalhe da pesquisa
1.
The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls.
Int J Mol Sci
; 24(24)2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38139231
2.
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Int J Mol Sci
; 24(6)2023 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36982625
3.
MicroRNAs as serum biomarkers in Becker muscular dystrophy.
J Cell Mol Med
; 26(17): 4678-4685, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35880500
4.
Characterization of patients with Becker muscular dystrophy by histology, magnetic resonance imaging, function, and strength assessments.
Muscle Nerve
; 65(3): 326-333, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918368
5.
Non-alcoholic beriberi, Wernicke encephalopathy and long-term eating disorder: case report and a mini-review.
Eat Weight Disord
; 26(2): 729-732, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32130681
6.
Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation.
Hum Mutat
; 41(1): 17-37, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448844
7.
Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice.
Carcinogenesis
; 40(1): 194-201, 2019 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30403777
8.
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
Acta Neuropathol
; 138(3): 477-495, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31218456
9.
Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1.
J Neurosci Res
; 96(9): 1576-1585, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30113722
10.
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
Hum Mutat
; 38(4): 426-438, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28058752
11.
Glycogen storage disease type III: A novel Agl knockout mouse model.
Biochim Biophys Acta
; 1842(11): 2318-28, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25092169
12.
Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition.
Front Neurol
; 15: 1340693, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38500810
13.
Flvcr1a deficiency promotes heme-based energy metabolism dysfunction in skeletal muscle.
Cell Rep
; 43(3): 113854, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38412099
14.
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Brain
; 135(Pt 11): 3404-15, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23043144
15.
MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization.
J Pers Med
; 13(1)2023 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36675808
16.
Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene.
Cells
; 12(10)2023 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37408239
17.
Lafora Disease: A Case Report and Evolving Treatment Advancements.
Brain Sci
; 13(12)2023 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38137127
18.
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant.
Front Genet
; 14: 1278572, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38098475
19.
Givinostat for Becker muscular dystrophy: A randomized, placebo-controlled, double-blind study.
Front Neurol
; 14: 1095121, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36793492
20.
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.
Eur J Hum Genet
; 31(12): 1414-1420, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37468577