Reilly MM - Search Results

1

Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.

Brewer MH, Ma KH, Beecham GW, Gopinath C, Baas F, Choi BO, Reilly MM, Shy ME, Züchner S, Svaren J, Antonellis A. Brewer MH, et al. Among authors: reilly mm. Hum Mol Genet. 2014 Oct 1;23(19):5171-87. doi: 10.1093/hmg/ddu240. Epub 2014 May 15. Hum Mol Genet. 2014. PMID: 24833716 Free PMC article.

2

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

3

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.

Houlden H, Reilly MM. Houlden H, et al. Among authors: reilly mm. Neuromolecular Med. 2006;8(1-2):43-62. doi: 10.1385/nmm:8:1-2:43. Neuromolecular Med. 2006. PMID: 16775366 Review.

4

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy.

Houlden H, Laura M, Ginsberg L, Jungbluth H, Robb SA, Blake J, Robinson S, King RH, Reilly MM. Houlden H, et al. Among authors: reilly mm. Neuromuscul Disord. 2009 Apr;19(4):264-9. doi: 10.1016/j.nmd.2009.01.006. Epub 2009 Mar 9. Neuromuscul Disord. 2009. PMID: 19272779

5

Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C.

Roberts RC, Peden AA, Buss F, Bright NA, Latouche M, Reilly MM, Kendrick-Jones J, Luzio JP. Roberts RC, et al. Among authors: reilly mm. Hum Mol Genet. 2010 Mar 15;19(6):1009-18. doi: 10.1093/hmg/ddp565. Epub 2009 Dec 22. Hum Mol Genet. 2010. PMID: 20028792 Free PMC article.

6

Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.

Murphy SM, Laurá M, Blake J, Polke J, Bremner F, Reilly MM. Murphy SM, et al. Among authors: reilly mm. Neuromuscul Disord. 2011 Mar;21(3):223-6. doi: 10.1016/j.nmd.2010.12.010. Epub 2011 Jan 21. Neuromuscul Disord. 2011. PMID: 21256749

7

Charcot-Marie-Tooth disease.

Reilly MM, Murphy SM, Laurá M. Reilly MM, et al. J Peripher Nerv Syst. 2011 Mar;16(1):1-14. doi: 10.1111/j.1529-8027.2011.00324.x. J Peripher Nerv Syst. 2011. PMID: 21504497 Review.

8

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

Murphy SM, Polke J, Manji H, Blake J, Reiniger L, Sweeney M, Houlden H, Brandner S, Reilly MM. Murphy SM, et al. Among authors: reilly mm. J Peripher Nerv Syst. 2011 Mar;16(1):65-70. doi: 10.1111/j.1529-8027.2011.00321.x. J Peripher Nerv Syst. 2011. PMID: 21504505

9

Neuropathy in a human without the PMP22 gene.

Saporta MA, Katona I, Zhang X, Roper HP, McClelland L, Macdonald F, Brueton L, Blake J, Suter U, Reilly MM, Shy ME, Li J. Saporta MA, et al. Among authors: reilly mm. Arch Neurol. 2011 Jun;68(6):814-21. doi: 10.1001/archneurol.2011.110. Arch Neurol. 2011. PMID: 21670407 Free PMC article.

10

Phenotype expression in women with CMT1X.

Siskind CE, Murphy SM, Ovens R, Polke J, Reilly MM, Shy ME. Siskind CE, et al. Among authors: reilly mm. J Peripher Nerv Syst. 2011 Jun;16(2):102-7. doi: 10.1111/j.1529-8027.2011.00332.x. J Peripher Nerv Syst. 2011. PMID: 21692908

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