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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: fidani l. 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.
Assessment of Parkinson's disease risk loci in Greece.
Kara E, Xiromerisiou G, Spanaki C, Bozi M, Koutsis G, Panas M, Dardiotis E, Ralli S, Bras J, Letson C, Edsall C, Pliner H, Arepalli S, Kalinderi K, Fidani L, Bostantjopoulou S, Keller MF, Wood NW, Hardy J, Houlden H, Stefanis L, Plaitakis A, Hernandez D, Hadjigeorgiou GM, Nalls MA, Singleton AB. Kara E, et al. Among authors: fidani l. Neurobiol Aging. 2014 Feb;35(2):442.e9-442.e16. doi: 10.1016/j.neurobiolaging.2013.07.011. Epub 2013 Sep 27. Neurobiol Aging. 2014. PMID: 24080174 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.
Exclusion mapping in familial non-specific dementia.
Brown J, Gydesen S, Sorensen SA, Brun A, Duff K, Houlden H, Fidani L, Kullkarni S, Cummings J, Goate A, et al. Brown J, et al. Among authors: fidani l. Dementia. 1993 May-Aug;4(3-4):163-6. doi: 10.1159/000107317. Dementia. 1993. PMID: 8401786
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.
68 results