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Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Poole OV, Pizzamiglio C, Murphy D, Falabella M, Macken WL, Bugiardini E, Woodward CE, Labrum R, Efthymiou S, Salpietro V, Chelban V, Kaiyrzhanov R, Maroofian R; SYNaPS Study Group; Amato AA, Gregory A, Hayflick SJ; Queen Square Genomics; Jonvik H, Wood N, Houlden H, Vandrovcova J, Hanna MG, Pittman A, Pitceathly RDS. Poole OV, et al. Among authors: chelban v. Ann Neurol. 2021 Jun;89(6):1240-1247. doi: 10.1002/ana.26063. Epub 2021 Apr 1. Ann Neurol. 2021. PMID: 33704825 Free PMC article.
Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.
O'Connor E, Vandrovcova J, Bugiardini E, Chelban V, Manole A, Davagnanam I, Wiethoff S, Pittman A, Lynch DS, Efthymiou S, Marino S, Manzur AY, Roberts M, Hanna MG, Houlden H, Matthews E, Wood NW. O'Connor E, et al. Among authors: chelban v. J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1230-1232. doi: 10.1136/jnnp-2017-317581. Epub 2018 Feb 22. J Neurol Neurosurg Psychiatry. 2018. PMID: 29472272 Free PMC article. No abstract available.
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.
Severe axonal neuropathy is a late manifestation of SPG11.
Manole A, Chelban V, Haridy NA, Hamed SA, Berardo A, Reilly MM, Houlden H. Manole A, et al. Among authors: chelban v. J Neurol. 2016 Nov;263(11):2278-2286. doi: 10.1007/s00415-016-8254-5. Epub 2016 Aug 20. J Neurol. 2016. PMID: 27544499 Free PMC article.
Analysis of the prion protein gene in multiple system atrophy.
Chelban V, Manole A, Pihlstrøm L, Schottlaender L, Efthymiou S, OConnor E, Meissner WG, Holton JL, Houlden H. Chelban V, et al. Neurobiol Aging. 2017 Jan;49:216.e15-216.e18. doi: 10.1016/j.neurobiolaging.2016.09.021. Epub 2016 Oct 3. Neurobiol Aging. 2017. PMID: 27793473 Free PMC article.
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botía JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I; SYNAPSE Study Group; Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H. Chelban V, et al. Am J Hum Genet. 2017 Jun 1;100(6):969-977. doi: 10.1016/j.ajhg.2017.05.009. Am J Hum Genet. 2017. PMID: 28575651 Free PMC article.
62 results