Volha Skrahina
Overview
Explore the profile of Volha Skrahina including associated specialties, affiliations and a list of published articles.
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Articles
25
Citations
386
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Recent Articles
1.
Bregvadze K, Abashishvili L, Tatishvili N, Shatirishvili T, Bedoshvili A, Chikvinidze G, et al.
Front Genet
. 2024 Dec;
15:1502444.
PMID: 39720178
Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by mutations in , with disease severity influenced by the number of copies. Although SMA is one of the most...
2.
Rosner S, Pardo L, Bertoli-Avella A, Skrahina V, Engel P, Schroder S, et al.
J Clin Med
. 2024 Oct;
13(20).
PMID: 39458146
: Hereditary transthyretin-related amyloidosis is a clinically heterogeneous autosomal dominant disease caused by pathogenic variants in the gene (hATTR amyloidosis). The current study describes the demographic, clinical, and genetic characteristics...
3.
Westenberger A, Skrahina V, Usnich T, Beetz C, Vollstedt E, Laabs B, et al.
Brain
. 2024 Aug;
147(8):2652-2667.
PMID: 39087914
Estimates of the spectrum and frequency of pathogenic variants in Parkinson's disease (PD) in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has...
4.
Skrahin A, Horowitz M, Istaiti M, Skrahina V, Lukas J, Yahalom G, et al.
Int J Mol Sci
. 2024 Jul;
25(13).
PMID: 39000225
-associated Parkinson's disease (-PD) is increasingly recognized as a distinct entity within the spectrum of parkinsonian disorders. This review explores the unique pathophysiological features, clinical progression, and genetic underpinnings that...
5.
Salpietro V, Maroofian R, Zaki M, Wangen J, Ciolfi A, Barresi S, et al.
Am J Hum Genet
. 2023 Dec;
111(1):200-210.
PMID: 38118446
The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause...
6.
Curado F, Rosner S, Zielke S, Westphal G, Grittner U, Skrahina V, et al.
Diagnostics (Basel)
. 2023 Sep;
13(17).
PMID: 37685353
Gaucher disease (GD) is a rare autosomal recessive disorder arising from bi-allelic variants in the gene, encoding glucocerebrosidase. Deficiency of this enzyme leads to progressive accumulation of the sphingolipid glucosylsphingosine...
7.
Tkemaladze T, Kvaratskhelia E, Ghughunishvili M, Rtskhiladze I, Zaalishvili Z, Nakaidze N, et al.
SAGE Open Med Case Rep
. 2023 Jun;
11:2050313X231177163.
PMID: 37274939
Cystic fibrosis is the most common, life-threatening, autosomal recessive disease in the Caucasian population. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, which encodes a...
8.
Dinur T, Bauer P, Beetz C, Cozma C, Becker-Cohen M, Istaiti M, et al.
Int J Mol Sci
. 2023 Feb;
24(4).
PMID: 36835356
Glucosylsphingosine (lyso-Gb1), the deacylated form of glucocerebroside, was shown to be the most specific and sensitive biomarker for diagnosing Gaucher disease (GD). The aim of this study is to assess...
9.
Kumar A, Skrahina V, Atta J, Boettcher V, Hanig N, Rolfs A, et al.
Front Genet
. 2023 Feb;
14:1081424.
PMID: 36824435
Biological material from the oral cavity is an excellent source of samples for genetic diagnostics. This is because collection is quick, easy-to-access, and non-invasive. We have set-up clinical whole genome...
10.
Skrahin A, Cheema H, Hussain M, Rana N, Rehman K, Kumar R, et al.
Life Sci Alliance
. 2023 Jan;
6(3).
PMID: 36635046
Studies on genomic secondary findings (SFs) are diverse in participants' characteristics, sequencing methods, and versions of the ACMG SF list. Based on whole genome sequencing and the version 3.1 of...