Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

20 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
SORL1 mutation in a Greek family with Parkinson's disease and dementia.
Xiromerisiou G, Bourinaris T, Houlden H, Lewis PA, Senkevich K, Hammer M, Federoff M, Khan A, Spanaki C, Hadjigeorgiou GM, Bonstanjopoulou S, Fidani L, Ermolaev A, Gan-Or Z, Singleton A, Vandrovcova J, Hardy J. Xiromerisiou G, et al. Among authors: bourinaris t. Ann Clin Transl Neurol. 2021 Oct;8(10):1961-1969. doi: 10.1002/acn3.51433. Epub 2021 Sep 10. Ann Clin Transl Neurol. 2021. PMID: 34506082 Free PMC article.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. Chelban V, et al. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 Free PMC article.
Neuronal intranuclear inclusion disease is genetically heterogeneous.
Chen Z, Yan Yau W, Jaunmuktane Z, Tucci A, Sivakumar P, Gagliano Taliun SA, Turner C, Efthymiou S, Ibáñez K, Sullivan R, Bibi F, Athanasiou-Fragkouli A, Bourinaris T, Zhang D, Revesz T, Lashley T, DeTure M, Dickson DW, Josephs KA, Gelpi E, Kovacs GG, Halliday G, Rowe DB, Blair I, Tienari PJ, Suomalainen A, Fox NC, Wood NW, Lees AJ, Haltia MJ; Genomics England Research Consortium; Hardy J, Ryten M, Vandrovcova J, Houlden H. Chen Z, et al. Among authors: bourinaris t. Ann Clin Transl Neurol. 2020 Sep;7(9):1716-1725. doi: 10.1002/acn3.51151. Epub 2020 Aug 10. Ann Clin Transl Neurol. 2020. PMID: 32777174 Free PMC article.
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.
Bettencourt C, Salpietro V, Efthymiou S, Chelban V, Hughes D, Pittman AM, Federoff M, Bourinaris T, Spilioti M, Deretzi G, Kalantzakou T, Houlden H, Singleton AB, Xiromerisiou G. Bettencourt C, et al. Among authors: bourinaris t. Orphanet J Rare Dis. 2017 Nov 2;12(1):172. doi: 10.1186/s13023-017-0721-2. Orphanet J Rare Dis. 2017. PMID: 29096665 Free PMC article.
Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS.
Sokratous M, Lucia S, Bourinaris T, Marogianni C, Arnaoutoglou M, Patrikiou E, Ralli S, Markou A, Dardiotis E, Houlden H, Hadjigeorgiou GM, Xiromerisiou G. Sokratous M, et al. Among authors: bourinaris t. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Aug;21(5-6):470-472. doi: 10.1080/21678421.2020.1757115. Epub 2020 Apr 26. Amyotroph Lateral Scler Frontotemporal Degener. 2020. PMID: 32338076
Spastic paraplegia preceding PSEN1-related familial Alzheimer's disease.
Chelban V, Breza M, Szaruga M, Vandrovcova J, Murphy D, Lee CJ, Alikhwan S, Bourinaris T, Vavougios G, Ilyas M, Halim SA, Al-Harrasi A, Kartanou C, Ronald C, Blumcke I, Alexoudi A, Gatzonis S, Stefanis L, Karadima G, Wood NW, Chávez-Gutiérrez L, Hardy J, Houlden H, Koutsis G. Chelban V, et al. Among authors: bourinaris t. Alzheimers Dement (Amst). 2021 May 2;13(1):e12186. doi: 10.1002/dad2.12186. eCollection 2021. Alzheimers Dement (Amst). 2021. PMID: 33969176 Free PMC article.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
20 results