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Pathological relationships involving iron and myelin may constitute a shared mechanism linking various rare and common brain diseases.
Heidari M, Gerami SH, Bassett B, Graham RM, Chua AC, Aryal R, House MJ, Collingwood JF, Bettencourt C, Houlden H, Ryten M; UK Brain Expression Consortium (UKBEC); Olynyk JK, Trinder D, Johnstone DM, Milward EA. Heidari M, et al. Among authors: ryten m. Rare Dis. 2016 Jun 22;4(1):e1198458. doi: 10.1080/21675511.2016.1198458. eCollection 2016. Rare Dis. 2016. PMID: 27500074 Free PMC article.
Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.
Tucci A, Liu YT, Preza E, Pitceathly RD, Chalasani A, Plagnol V, Land JM, Trabzuni D, Ryten M; UKBEC; Jaunmuktane Z, Reilly MM, Brandner S, Hargreaves I, Hardy J, Singleton AB, Abramov AY, Houlden H. Tucci A, et al. Among authors: ryten m. J Neurol Neurosurg Psychiatry. 2014 May;85(5):486-92. doi: 10.1136/jnnp-2013-306387. Epub 2013 Nov 6. J Neurol Neurosurg Psychiatry. 2014. PMID: 24198383 Free PMC article.
Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia.
Bettencourt C, Ryten M, Forabosco P, Schorge S, Hersheson J, Hardy J, Houlden H; United Kingdom Brain Expression Consortium. Bettencourt C, et al. Among authors: ryten m. JAMA Neurol. 2014 Jul 1;71(7):831-9. doi: 10.1001/jamaneurol.2014.756. JAMA Neurol. 2014. PMID: 24862029 Free PMC article. Clinical Trial.
Gene co-expression networks shed light into diseases of brain iron accumulation.
Bettencourt C, Forabosco P, Wiethoff S, Heidari M, Johnstone DM, Botía JA, Collingwood JF, Hardy J; UK Brain Expression Consortium (UKBEC); Milward EA, Ryten M, Houlden H. Bettencourt C, et al. Among authors: ryten m. Neurobiol Dis. 2016 Mar;87:59-68. doi: 10.1016/j.nbd.2015.12.004. Epub 2015 Dec 18. Neurobiol Dis. 2016. PMID: 26707700 Free PMC article.
Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features.
Heidari M, Johnstone DM, Bassett B, Graham RM, Chua AC, House MJ, Collingwood JF, Bettencourt C, Houlden H, Ryten M, Olynyk JK, Trinder D, Milward EA. Heidari M, et al. Among authors: ryten m. Mol Psychiatry. 2016 Nov;21(11):1599-1607. doi: 10.1038/mp.2015.192. Epub 2016 Jan 5. Mol Psychiatry. 2016. PMID: 26728570 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. Among authors: ryten m. 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.
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.
Salpietro V, Efthymiou S, Manole A, Maurya B, Wiethoff S, Ashokkumar B, Cutrupi MC, Dipasquale V, Manti S, Botia JA, Ryten M, Vandrovcova J, Bello OD, Bettencourt C, Mankad K, Mukherjee A, Mutsuddi M, Houlden H. Salpietro V, et al. Among authors: ryten m. Hum Mutat. 2018 Feb;39(2):187-192. doi: 10.1002/humu.23368. Epub 2017 Nov 27. Hum Mutat. 2018. PMID: 29127725 Free PMC article.
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J; SYNAPS Study Group; Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H. Efthymiou S, et al. Among authors: ryten m. Brain. 2019 Oct 1;142(10):2948-2964. doi: 10.1093/brain/awz248. Brain. 2019. PMID: 31501903 Free PMC article.
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.
Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H. Hersheson J, et al. Among authors: ryten m. Ann Neurol. 2013 Apr;73(4):546-53. doi: 10.1002/ana.23832. Epub 2013 Feb 19. Ann Neurol. 2013. PMID: 23424103 Free PMC article.
222 results