Detalhe da pesquisa
1.
Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease.
Medicina (Kaunas)
; 60(1)2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38256360
2.
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
3.
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-related.
Hum Mutat
; 43(10): 1347-1353, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35731190
4.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
5.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Ann Neurol
; 89(3): 485-497, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33236446
6.
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
7.
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report.
BMC Neurol
; 20(1): 58, 2020 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32061250
8.
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
Am J Hum Genet
; 98(4): 755-62, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27018475
9.
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.
Int J Mol Sci
; 19(4)2018 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29597274
10.
A New Baltic Population-Specific Human Genetic Marker in the PMCA4 Gene.
Hum Hered
; 82(3-4): 140-146, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-29131013
11.
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
BMC Musculoskelet Disord
; 17: 200, 2016 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27142102
12.
Genetic linkage studies of a North Carolina macular dystrophy family.
Medicina (Kaunas)
; 52(3): 180-6, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27496188
13.
Y-Chromosomal Lineages of Latvians in the Context of the Genetic Variation of the Eastern-Baltic Region.
Ann Hum Genet
; 79(6): 418-30, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26411886
14.
Genetic variation in the promoter region of beta-defensin 1 (DEFB 1) is associated with high caries experience in children born with cleft lip and palate.
Acta Odontol Scand
; 72(3): 235-40, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23964634
15.
Unraveling the Pathogenetic Mechanisms Underlying the Association between Specific Mitochondrial DNA Haplogroups and Parkinson's Disease.
Cells
; 13(8)2024 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38667309
16.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
; 2024 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585825
17.
The most common European HINT1 neuropathy variant phenotype and its case studies.
Front Neurol
; 14: 1084335, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36873433
18.
BCL3 gene role in facial morphology.
Birth Defects Res A Clin Mol Teratol
; 94(11): 918-24, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23115114
19.
Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study.
Front Genet
; 13: 828534, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35281813
20.
Case Report: Two Families With HPDL Related Neurodegeneration.
Front Genet
; 13: 780764, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35222531