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.
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
6.
Sarcomeric myopathies associated with tremor: new insights and perspectives.
J Muscle Res Cell Motil
; 41(4): 285-295, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31620961
7.
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
8.
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
9.
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
10.
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
11.
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
12.
Case Report: Two Families With HPDL Related Neurodegeneration.
Front Genet
; 13: 780764, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35222531
13.
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
14.
Sarcomeric deficits underlie MYBPC1-associated myopathy with myogenic tremor.
JCI Insight
; 6(19)2021 10 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34437302
15.
The Fetal Phenotype of Noonan Syndrome Caused by Severe, Cancer-Related PTPN11 Variants.
Am J Case Rep
; 21: e922468, 2020 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32794475
16.
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
17.
Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.
Mitochondrial DNA A DNA Mapp Seq Anal
; 29(7): 1115-1120, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29228836
18.
Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations.
Stomatologija
; 16(3): 94-101, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25471993
19.
Dupuytren's Contracture Cosegregation with Limb-Girdle Muscle Dystrophy.
Case Rep Neurol Med
; 2013: 254950, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24024053