Reilly MM - Search Results

1

A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.

Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles E, Reilly MM, Shy ME, Zuchner S. Rebelo AP, et al. Among authors: reilly mm. Brain. 2021 May 7;144(4):1197-1213. doi: 10.1093/brain/awab019. Brain. 2021. PMID: 33889941 Free PMC article.

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

Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction.

Houlden H, Girard M, Cockerell C, Ingram D, Wood NW, Goossens M, Walker RW, Reilly MM. Houlden H, et al. Among authors: reilly mm. Ann Neurol. 2004 Nov;56(5):730-4. doi: 10.1002/ana.20267. Ann Neurol. 2004. PMID: 15470753

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

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.

6

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.

7

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

8

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

9

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.

10

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

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