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The cypriot and Iranian National Mutation Frequency Databases.
Kleanthous M, Patsalis PC, Drousiotou A, Motazacker M, Christodoulou K, Cariolou M, Baysal E, Khrizi K, Moghimi B, Pourfarzad F, van Baal S, Deltas C, Najmabadi H, Patrinos GP. Kleanthous M, et al. Among authors: christodoulou k. Hum Mutat. 2006 Jun;27(6):598-9. doi: 10.1002/humu.9422. Hum Mutat. 2006. PMID: 16705699
A novel GBA2 gene missense mutation in spastic ataxia.
Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K. Votsi C, et al. Among authors: christodoulou k. Ann Hum Genet. 2014 Jan;78(1):13-22. doi: 10.1111/ahg.12045. Epub 2013 Nov 20. Ann Hum Genet. 2014. PMID: 24252062
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation.
Ververis A, Dajani R, Koutsou P, Aloqaily A, Nelson-Williams C, Loring E, Arafat A, Mubaidin AF, Horany K, Bader MB, Al-Baho Y, Ali B, Muhtaseb A, DeSpenza T Jr, Al-Qudah AA, Middleton LT, Zamba-Papanicolaou E, Lifton R, Christodoulou K. Ververis A, et al. Among authors: christodoulou k. J Med Genet. 2020 Mar;57(3):178-186. doi: 10.1136/jmedgenet-2019-106108. Epub 2019 Sep 11. J Med Genet. 2020. PMID: 31511340 Free PMC article.
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Among authors: christodoulou k. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.
142 results