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Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Guelly C, Zhu PP, Leonardis L, Papić L, Zidar J, Schabhüttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Fröhlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M. Guelly C, et al. Among authors: reilly mm. Am J Hum Genet. 2011 Jan 7;88(1):99-105. doi: 10.1016/j.ajhg.2010.12.003. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194679 Free PMC article.
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.
Lee MJ, Stephenson DA, Groves MJ, Sweeney MG, Davis MB, An SF, Houlden H, Salih MA, Timmerman V, de Jonghe P, Auer-Grumbach M, Di Maria E, Scaravilli F, Wood NW, Reilly MM. Lee MJ, et al. Among authors: reilly mm. Hum Mol Genet. 2003 Aug 1;12(15):1917-25. doi: 10.1093/hmg/ddg198. Hum Mol Genet. 2003. PMID: 12874111
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Rohkamm B, Reilly MM, Lochmüller H, Schlotter-Weigel B, Barisic N, Schöls L, Nicholson G, Pareyson D, Laurà M, Janecke AR, Miltenberger-Miltenyi G, John E, Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M. Rohkamm B, et al. Among authors: reilly mm. J Neurol Sci. 2007 Dec 15;263(1-2):100-6. doi: 10.1016/j.jns.2007.06.047. Epub 2007 Jul 30. J Neurol Sci. 2007. PMID: 17663003 Free PMC article.
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
Zimoń M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landouré G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ, Timmerman V, Jordanova A, Jonghe PD. Zimoń M, et al. Among authors: reilly mm. Brain. 2010 Jun;133(Pt 6):1798-809. doi: 10.1093/brain/awq109. Epub 2010 May 11. Brain. 2010. PMID: 20460441 Free PMC article.
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
Rivière JB, Ramalingam S, Lavastre V, Shekarabi M, Holbert S, Lafontaine J, Srour M, Merner N, Rochefort D, Hince P, Gaudet R, Mes-Masson AM, Baets J, Houlden H, Brais B, Nicholson GA, Van Esch H, Nafissi S, De Jonghe P, Reilly MM, Timmerman V, Dion PA, Rouleau GA. Rivière JB, et al. Among authors: reilly mm. Am J Hum Genet. 2011 Aug 12;89(2):219-30. doi: 10.1016/j.ajhg.2011.06.013. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820098 Free PMC article.
Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.
Beetz C, Pieber TR, Hertel N, Schabhüttl M, Fischer C, Trajanoski S, Graf E, Keiner S, Kurth I, Wieland T, Varga RE, Timmerman V, Reilly MM, Strom TM, Auer-Grumbach M. Beetz C, et al. Among authors: reilly mm. Am J Hum Genet. 2012 Jul 13;91(1):139-45. doi: 10.1016/j.ajhg.2012.05.007. Epub 2012 Jun 14. Am J Hum Genet. 2012. PMID: 22703882 Free PMC article.
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S; UK10K; Muntoni F, North KN, Reilly MM. Oates EC, et al. Among authors: reilly mm. Am J Hum Genet. 2013 Jun 6;92(6):965-73. doi: 10.1016/j.ajhg.2013.04.018. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664120 Free PMC article.
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
Schabhüttl M, Wieland T, Senderek J, Baets J, Timmerman V, De Jonghe P, Reilly MM, Stieglbauer K, Laich E, Windhager R, Erwa W, Trajanoski S, Strom TM, Auer-Grumbach M. Schabhüttl M, et al. Among authors: reilly mm. J Neurol. 2014 May;261(5):970-82. doi: 10.1007/s00415-014-7289-8. Epub 2014 Mar 15. J Neurol. 2014. PMID: 24627108
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: reilly mm. Neurology. 2014 Aug 12;83(7):612-9. doi: 10.1212/WNL.0000000000000691. Epub 2014 Jul 9. Neurology. 2014. PMID: 25008398 Free PMC article.
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: reilly mm. 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.
400 results