Reilly MM - Search Results

1

Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity.

Ernst D, Murphy SM, Sathiyanadan K, Wei Y, Othman A, Laurá M, Liu YT, Penno A, Blake J, Donaghy M, Houlden H, Reilly MM, Hornemann T. Ernst D, et al. Among authors: reilly mm. Neuromolecular Med. 2015 Mar;17(1):47-57. doi: 10.1007/s12017-014-8339-1. Epub 2015 Jan 8. Neuromolecular Med. 2015. PMID: 25567748 Free PMC article.

2

A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.

Houlden H, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK. Houlden H, et al. Ann Neurol. 2001 Apr;49(4):521-5. Ann Neurol. 2001. PMID: 11310631

3

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

4

Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.

Pitt M, Houlden H, Jacobs J, Mok Q, Harding B, Reilly M, Surtees R. Pitt M, et al. Brain. 2003 Dec;126(Pt 12):2682-92. doi: 10.1093/brain/awg278. Epub 2003 Sep 23. Brain. 2003. PMID: 14506069

5

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.

6

A novel RAB7 mutation associated with ulcero-mutilating neuropathy.

Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, Ginsberg L. Houlden H, et al. Among authors: reilly mm. Ann Neurol. 2004 Oct;56(4):586-90. doi: 10.1002/ana.20281. Ann Neurol. 2004. PMID: 15455439

7

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

8

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.

9

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.

10

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

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