Detalhe da pesquisa
1.
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.
Muscle Nerve;
2024 Jun 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38855810
2.
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Am J Med Genet A;
185(8): 2561-2571, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34008892
3.
A novel homozygous ALPK3 variant associated with cardiomyopathy and skeletal muscle involvement.
Muscle Nerve;
65(3): E7-E10, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34862804
4.
Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype.
Muscle Nerve;
55(1): 46-50, 2017 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27178005
5.
A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.
Mol Cell Probes;
30(4): 254-260, 2016 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27417533
6.
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Genes (Basel);
14(7)2023 07 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37510394
7.
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.
Expert Rev Mol Diagn;
23(11): 999-1010, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37754746
8.
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Expert Rev Mol Diagn;
23(1): 85-103, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36714946
9.
Orofacial Muscle Weakening in Facioscapulohumeral Muscular Dystrophy (FSHD) Patients.
Children (Basel);
9(1)2022 Jan 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35053721
10.
Analysis of a founder mutation in the TH gene in a cohort of greek patients with Parkinson's disease.
Mov Disord;
31(11): 1753-1754, 2016 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27666733
11.
Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years.
J Neuromuscul Dis;
7(3): 247-256, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32417790