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Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
Cottenie E, Kochanski A, Jordanova A, Bansagi B, Zimon M, Horga A, Jaunmuktane Z, Saveri P, Rasic VM, Baets J, Bartsakoulia M, Ploski R, Teterycz P, Nikolic M, Quinlivan R, Laura M, Sweeney MG, Taroni F, Lunn MP, Moroni I, Gonzalez M, Hanna MG, Bettencourt C, Chabrol E, Franke A, von Au K, Schilhabel M, Kabzińska D, Hausmanowa-Petrusewicz I, Brandner S, Lim SC, Song H, Choi BO, Horvath R, Chung KW, Zuchner S, Pareyson D, Harms M, Reilly MM, Houlden H. Cottenie E, et al. Among authors: horga a. Am J Hum Genet. 2014 Nov 6;95(5):590-601. doi: 10.1016/j.ajhg.2014.10.002. Epub 2014 Oct 30. Am J Hum Genet. 2014. PMID: 25439726 Free PMC article.
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.
Liu YT, Laurá M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Pittman A, Hughes D, Polke JM, Sweeney MG, Proukakis C, Janssen JC, Auer-Grumbach M, Zuchner S, Shields KG, Reilly MM, Houlden H. Liu YT, et al. Among authors: horga a. Neurology. 2014 Aug 12;83(7):612-9. doi: 10.1212/WNL.0000000000000691. Epub 2014 Jul 9. Neurology. 2014. PMID: 25008398 Free PMC article.
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, Sweeney MG, Holton JL, Hanna M, Dallman JE, Auer-Grumbach M, Reilly MM, Zuchner S. Rebelo AP, et al. Among authors: horga a. Am J Hum Genet. 2016 Apr 7;98(4):597-614. doi: 10.1016/j.ajhg.2016.02.022. Epub 2016 Mar 31. Am J Hum Genet. 2016. PMID: 27040688 Free PMC article.
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.
Horga A, Tomaselli PJ, Gonzalez MA, Laurà M, Muntoni F, Manzur AY, Hanna MG, Blake JC, Houlden H, Züchner S, Reilly MM. Horga A, et al. Neurology. 2016 Oct 11;87(15):1607-1612. doi: 10.1212/WNL.0000000000003212. Epub 2016 Sep 14. Neurology. 2016. PMID: 27629094 Free PMC article. Review.
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
Tomaselli PJ, Rossor AM, Horga A, Jaunmuktane Z, Carr A, Saveri P, Piscosquito G, Pareyson D, Laura M, Blake JC, Poh R, Polke J, Houlden H, Reilly MM. Tomaselli PJ, et al. Among authors: horga a. Neurology. 2017 Apr 11;88(15):1445-1453. doi: 10.1212/WNL.0000000000003819. Epub 2017 Mar 10. Neurology. 2017. PMID: 28283593 Free PMC article.
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A, Laurà M, Jaunmuktane Z, Jerath NU, Gonzalez MA, Polke JM, Poh R, Blake JC, Liu YT, Wiethoff S, Bettencourt C, Lunn MP, Manji H, Hanna MG, Houlden H, Brandner S, Züchner S, Shy M, Reilly MM. Horga A, et al. J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):575-585. doi: 10.1136/jnnp-2016-315077. Epub 2017 May 13. J Neurol Neurosurg Psychiatry. 2017. PMID: 28501821 Free PMC article.
66 results