Reilly MM - Search Results

1

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

Beijer D, Dohrn MF, Rebelo A, Danzi MC, Grosz BR, Ellis M, Kumar KR, Vucic S, Vais H, Weissenrieder JS, Lunko O, Paudel U, Simpson LC, Camarena V, Raposo J, Saporta M, Arcia Y, Xu I, Feely S, Record CJ, Blake J, Reilly MM, Scherer SS, Kennerson M, Lee YC, Foskett JK, Shy ME, Zuchner S. Beijer D, et al. Among authors: reilly mm. Brain. 2025 Jan 7;148(1):227-237. doi: 10.1093/brain/awae206. Brain. 2025. PMID: 38938188

2

Clinical and genetic characterization of families with triple A (Allgrove) syndrome.

Houlden H, Smith S, De Carvalho M, Blake J, Mathias C, Wood NW, Reilly MM. Houlden H, et al. Among authors: reilly mm. Brain. 2002 Dec;125(Pt 12):2681-90. doi: 10.1093/brain/awf270. Brain. 2002. PMID: 12429595

3

Hereditary sensory neuropathies.

Houlden H, Blake J, Reilly MM. Houlden H, et al. Among authors: reilly mm. Curr Opin Neurol. 2004 Oct;17(5):569-77. doi: 10.1097/00019052-200410000-00007. Curr Opin Neurol. 2004. PMID: 15367861 Review.

4

Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).

Houlden H, King R, Blake J, Groves M, Love S, Woodward C, Hammans S, Nicoll J, Lennox G, O'Donovan DG, Gabriel C, Thomas PK, Reilly MM. Houlden H, et al. Among authors: reilly mm. Brain. 2006 Feb;129(Pt 2):411-25. doi: 10.1093/brain/awh712. Epub 2005 Dec 19. Brain. 2006. PMID: 16364956

5

A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.

Houlden H, Hammans S, Katifi H, Reilly MM. Houlden H, et al. Among authors: reilly mm. Neurology. 2009 Feb 17;72(7):617-20. doi: 10.1212/01.wnl.0000342463.35089.cc. Neurology. 2009. PMID: 19221294 Free PMC article.

6

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

7

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

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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