Detalhe da pesquisa
1.
Impact of the m.13513G>A Variant on the Functions of the OXPHOS System and Cell Retrograde Signaling.
Curr Issues Mol Biol;
45(3): 1794-1809, 2023 Feb 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36975485
2.
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy.
Ann Neurol;
86(1): 129-142, 2019 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31025394
3.
Case Report: Two Families With HPDL Related Neurodegeneration.
Front Genet;
13: 780764, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35222531
4.
Overview of Neuromuscular Disorder Molecular Diagnostic Experience for the Population of Latvia.
Neurol Genet;
8(3): e685, 2022 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36381256
5.
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity.
Neuromuscul Disord;
30(6): 483-491, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32448721