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2017 1
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2023 7
2024 1

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21 results

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Page 1
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Among authors: skrahina v. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Curado F, Rösner S, Zielke S, Westphal G, Grittner U, Skrahina V, Alasel M, Malik AM, Beetz C, Böttcher T, Barel G, Sah AP, Dinur T, Anjum N, Ichraf Q, Kriouile Y, Hadipour Z, Hadipour F, Revel-Vilk S, Cozma C, Hartkamp J, Cheema H, Zimran A, Bauer P, Rolfs A; LYSO-PROOF Study Group. Curado F, et al. Among authors: skrahina v. Diagnostics (Basel). 2023 Aug 30;13(17):2812. doi: 10.3390/diagnostics13172812. Diagnostics (Basel). 2023. PMID: 37685353 Free PMC article.
Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease.
Tkemaladze T, Kvaratskhelia E, Ghughunishvili M, Rtskhiladze I, Zaalishvili Z, Nakaidze N, Lentze MJ, Abzianidze E, Skrahina V, Rolfs A. Tkemaladze T, et al. Among authors: skrahina v. SAGE Open Med Case Rep. 2023 May 29;11:2050313X231177163. doi: 10.1177/2050313X231177163. eCollection 2023. SAGE Open Med Case Rep. 2023. PMID: 37274939 Free PMC article.
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Skrahin A, Cheema HA, Hussain M, Rana NN, Rehman KU, Kumar R, Oprea G, Ameziane N, Rolfs A, Skrahina V. Skrahin A, et al. Among authors: skrahina v. Life Sci Alliance. 2023 Jan 12;6(3):e202201673. doi: 10.26508/lsa.202201673. Print 2023 Mar. Life Sci Alliance. 2023. PMID: 36635046 Free PMC article.
Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants.
Usnich T, Olmedillas M, Schell N, Paul JJ, Curado F, Skobalj S, Csoti I, Ertan S, Gruber D, Zittel S, Sammler E, Isaacson SH, Kühn AA, Pedrosa DJ, Reetz K, Kasten M, Rolfs A, Bauer P, Skrahina V, Klein C, Brüggemann N; LIPAD Study Group. Usnich T, et al. Among authors: skrahina v. Parkinsonism Relat Disord. 2023 Feb;107:105248. doi: 10.1016/j.parkreldis.2022.105248. Epub 2022 Dec 17. Parkinsonism Relat Disord. 2023. PMID: 36565535 No abstract available.
Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.
Skrahina V, Grittner U, Beetz C, Skripuletz T, Juenemann M, Krämer HH, Hahn K, Rieth A, Schaechinger V, Patten M, Tanislav C, Achenbach S, Assmus B, Knebel F, Gingele S, Skrahin A, Hartkamp J, Förster TM, Roesner S, Pereira C, Rolfs A. Skrahina V, et al. Ann Med. 2021 Dec;53(1):1787-1796. doi: 10.1080/07853890.2021.1988696. Ann Med. 2021. PMID: 34658264 Free PMC article.
HAE patient self-sampling for biomarker establishment.
Förster TM, Magerl M, Maurer M, Zülbahar S, Zielke S, Inhaber N, Crocetta D, Rolfs A, Skrahina V. Förster TM, et al. Among authors: skrahina v. Orphanet J Rare Dis. 2021 Sep 28;16(1):399. doi: 10.1186/s13023-021-02021-x. Orphanet J Rare Dis. 2021. PMID: 34583739 Free PMC article.
21 results