Detalhe da pesquisa
1.
Is Cardiac Transplantation Still a Contraindication in Patients with Muscular Dystrophy-Related End-Stage Dilated Cardiomyopathy? A Systematic Review.
Int J Mol Sci
; 25(10)2024 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38791328
2.
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Curr Issues Mol Biol
; 45(4): 2847-2860, 2023 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37185710
3.
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.
Int J Mol Sci
; 24(11)2023 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37298193
4.
Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease.
J Neurol Neurosurg Psychiatry
; 93(12): 1253-1261, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36220341
5.
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
Int J Mol Sci
; 23(24)2022 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555543
6.
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.
Hum Mol Genet
; 28(23): 3912-3920, 2019 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600781
7.
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Brain
; 143(9): 2696-2708, 2020 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32875335
8.
X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.
Int J Mol Sci
; 22(14)2021 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34299283
9.
Prevalence of Left Ventricular Systolic Dysfunction in Myotonic Dystrophy Type 1: A Systematic Review.
J Card Fail
; 26(10): 849-856, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31415861
10.
Study of expression of genes potentially responsible for reduced fitness in patients with myotonic dystrophy type 1 and identification of new biomarkers of testicular function.
Mol Reprod Dev
; 87(1): 45-52, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31840338
11.
Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3.
J Neurol Neurosurg Psychiatry
; 91(11): 1166-1174, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917822
12.
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.
J Med Genet
; 56(5): 293-300, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30593463
13.
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Ann Intern Med
; 171(7): 458-463, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31476771
14.
SERUM cardiac-specific biomarkers and atrial fibrillation in myotonic dystrophy type I.
J Cardiovasc Electrophysiol
; 30(12): 2914-2919, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31579995
15.
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel.
Hum Mutat
; 39(9): 1273-1283, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29935101
16.
Cross-sectional serum metabolomic study of multiple forms of muscular dystrophy.
J Cell Mol Med
; 22(4): 2442-2448, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29441734
17.
Females with dystrophinopathy: A neglected patient population.
Dev Med Child Neurol
; 65(8): 1001-1002, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724343
18.
Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.
J Gene Med
; 19(4)2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28316128
19.
Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.
Hum Genet
; 135(7): 685-98, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27098336
20.
The Role of the Atrial Electromechanical Delay in Predicting Atrial Fibrillation in Myotonic Dystrophy Type 1 Patients.
J Cardiovasc Electrophysiol
; 27(1): 65-72, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26331589