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Page 1
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.
Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H. Sumner CJ, et al. Among authors: fawcett ka. Am J Hum Genet. 2013 Nov 7;93(5):976-83. doi: 10.1016/j.ajhg.2013.10.006. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207122 Free PMC article.
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.
Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, Rossor AM, Polke JM, Castleman V, Manji H, Lunn MP, Bull K, Ramdharry G, Davis M, Blake JC, Houlden H, Reilly MM. Murphy SM, et al. J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):706-10. doi: 10.1136/jnnp-2012-302451. Epub 2012 May 10. J Neurol Neurosurg Psychiatry. 2012. PMID: 22577229 Free PMC article.
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H. Tucci A, et al. Hum Mutat. 2013 Feb;34(2):296-300. doi: 10.1002/humu.22241. Epub 2012 Nov 27. Hum Mutat. 2013. PMID: 23086778 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. 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.
Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation.
Liu YT, Hersheson J, Plagnol V, Fawcett K, Duberley KE, Preza E, Hargreaves IP, Chalasani A, Laurá M, Wood NW, Reilly MM, Houlden H. Liu YT, et al. J Neurol Neurosurg Psychiatry. 2014 May;85(5):493-8. doi: 10.1136/jnnp-2013-306483. Epub 2013 Nov 11. J Neurol Neurosurg Psychiatry. 2014. PMID: 24218524 Free PMC article.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH. Watson LM, et al. Am J Hum Genet. 2017 Sep 7;101(3):451-458. doi: 10.1016/j.ajhg.2017.08.005. Am J Hum Genet. 2017. PMID: 28886343 Free PMC article.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Jayawant S, Lickiss J, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH. Watson LM, et al. Am J Hum Genet. 2017 Oct 5;101(4):638. doi: 10.1016/j.ajhg.2017.09.006. Am J Hum Genet. 2017. PMID: 28985497 Free PMC article. No abstract available.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH. Watson LM, et al. Am J Hum Genet. 2017 Nov 2;101(5):866. doi: 10.1016/j.ajhg.2017.10.008. Am J Hum Genet. 2017. PMID: 29100096 Free PMC article. No abstract available.
49 results