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Page 1
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.
The Nigeria Parkinson Disease Registry: Process, Profile, and Prospects of a Collaborative Project.
Ojo OO, Abubakar SA, Iwuozo EU, Nwazor EO, Ekenze OS, Farombi TH, Akinyemi RO, Williams UE, Bello AH, Wahab KW, Iyagba AM, Arigbodi O, Erameh CO, Komolafe MA, Fawale MB, Onwuegbuzie GA, Obiabo YO, Taiwo FT, Agu CE, Ekeh BC, Osaigbovo GO, Achoru CO, Arabambi B, Adeniji O, Nwani PO, Nwosu CM, Ademiluyi BA, Oyakhire SI, Nyandaiti Y, Rabiu M, Chapp-Jumbo EN, Balarabe SA, Otubogun FM, Obehighe EE, Kehinde AJ, Ani-Osheku I, Imarhiagbe FA, Dike FO, Adebowale AA, Agabi OP, Akpekpe JE, Ali MW, Odeniyi OA, Odiase FE, Abiodun OV, Olowoyo P, Osemwegie N, Oshinaike OO, Owolabi LF, Zubair YA, Rizig M, Okubadejo NU. Ojo OO, et al. Among authors: iyagba am. Mov Disord. 2020 Aug;35(8):1315-1322. doi: 10.1002/mds.28123. Epub 2020 Jun 19. Mov Disord. 2020. PMID: 32557840
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.