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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 2
2005 2
2006 2
2007 2
2008 2
2009 4
2010 5
2011 2
2012 4
2013 2
2014 4
2015 4
2016 3
2017 3
2018 1
2019 4
2020 2
2021 8
2022 3
2023 3
2024 3

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56 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. 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.
High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete: Genetic Heterogeneity and Distinct Phenotypes.
Tzagournissakis M, Foukarakis E, Samonakis D, Tsilimbaris M, Michaelidou K, Mathioudakis L, Marinis A, Giannakoudakis E, Spanaki C, Skoula I, Erimaki S, Amoiridis G, Koutsis G, Koukouraki S, Stylianou K, Plaitakis A, Mitsias PD, Zaganas I. Tzagournissakis M, et al. Among authors: spanaki c. Neurol Genet. 2022 Sep 9;8(5):e200013. doi: 10.1212/NXG.0000000000200013. eCollection 2022 Oct. Neurol Genet. 2022. PMID: 36101541 Free PMC article.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Buried Bumper Syndrome is not caused by levodopa infusion. Reply to Dr Kotzampassi's Letter to the Editor. Concerning the publication: Buried Bumper Syndrome: A common complication of levodopa intestinal infusion for Parkinson disease. By: Spanaki C, Boura I, Avgoustaki A, Orfanoudaki E, Giannopoulou IA, Giakoumakis E, Chlouverakis G, Athanasakis E, Koulentaki M. Parkinsonism Relat Disord. 2021 Apr; 85:59-62.
Spanaki C, Boura I, Orfanoudaki E, Avgoustaki A, Athanasakis E, Koulentaki M. Spanaki C, et al. Parkinsonism Relat Disord. 2022 Sep;102:121. doi: 10.1016/j.parkreldis.2022.04.010. Epub 2022 Apr 25. Parkinsonism Relat Disord. 2022. PMID: 35491293 No abstract available.
Τhe Greek Variant in APP Gene: The Phenotypic Spectrum of APP Mutations.
Kalampokini S, Georgouli D, Patrikiou E, Provatas A, Valotassiou V, Georgoulias P, Spanaki C, Hadjigeorgiou GM, Xiromerisiou G. Kalampokini S, et al. Among authors: spanaki c. Int J Mol Sci. 2021 Nov 16;22(22):12355. doi: 10.3390/ijms222212355. Int J Mol Sci. 2021. PMID: 34830236 Free PMC article. Review.
α-Synuclein (SNCA) A30G Mutation as a Cause of a Complex Phenotype Without Parkinsonism.
Sokratous M, Breza M, Senkevich K, Gan-Or Z, Kalampokini S, Spanaki C, Provatas A, Zaunmuktane Z, Valotassiou V, Georgoulias P, Efthymiou S, Hadjigeorgiou GM, Houlden H, Xiromerisiou G. Sokratous M, et al. Among authors: spanaki c. Mov Disord. 2021 Sep;36(9):2209-2212. doi: 10.1002/mds.28735. Mov Disord. 2021. PMID: 34543462 No abstract available.
56 results