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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. Among authors: cordivari c. 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.
Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency.
Stamelou M, Mencacci NE, Cordivari C, Batla A, Wood NW, Houlden H, Hardy J, Bhatia KP. Stamelou M, et al. Among authors: cordivari c. Neurology. 2012 Jul 31;79(5):435-41. doi: 10.1212/WNL.0b013e318261714a. Epub 2012 Jul 18. Neurology. 2012. PMID: 22815559 Free PMC article.
The phenotypic spectrum of DYT24 due to ANO3 mutations.
Stamelou M, Charlesworth G, Cordivari C, Schneider SA, Kägi G, Sheerin UM, Rubio-Agusti I, Batla A, Houlden H, Wood NW, Bhatia KP. Stamelou M, et al. Among authors: cordivari c. Mov Disord. 2014 Jun;29(7):928-34. doi: 10.1002/mds.25802. Epub 2014 Jan 17. Mov Disord. 2014. PMID: 24442708 Free PMC article.
Screening of mutations in NOL3 in a myoclonic syndromes series.
Macerollo A, Mencacci NE, Erro R, Cordivari C, Edwards MJ, Wood NW, Bhatia KP. Macerollo A, et al. Among authors: cordivari c. J Neurol. 2014 Sep;261(9):1830-1. doi: 10.1007/s00415-014-7463-z. Epub 2014 Aug 20. J Neurol. 2014. PMID: 25138476 Free PMC article. No abstract available.
KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia.
Balint B, Guerreiro R, Carmona S, Dehghani N, Latorre A, Cordivari C, Bhatia KP, Bras J. Balint B, et al. Among authors: cordivari c. Eur J Neurol. 2020 Aug;27(8):1471-1477. doi: 10.1111/ene.14228. Epub 2020 May 3. Eur J Neurol. 2020. PMID: 32212350
Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation.
Coppola A, Hernandez-Hernandez L, Balestrini S, Krithika S, Moran N, Hale B, Cordivari C, Sisodiya SM. Coppola A, et al. Among authors: cordivari c. J Neurol. 2020 Aug;267(8):2221-2227. doi: 10.1007/s00415-020-09821-4. Epub 2020 Apr 9. J Neurol. 2020. PMID: 32274582 Free PMC article.
Propriospinal myoclonus: clinical reappraisal and review of literature.
van der Salm SM, Erro R, Cordivari C, Edwards MJ, Koelman JH, van den Ende T, Bhatia KP, van Rootselaar AF, Brown P, Tijssen MA. van der Salm SM, et al. Among authors: cordivari c. Neurology. 2014 Nov 11;83(20):1862-70. doi: 10.1212/WNL.0000000000000982. Epub 2014 Oct 10. Neurology. 2014. PMID: 25305154 Free PMC article. Review.
61 results