Houlden H - Search Results

1

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2.

Gonzalez M, McLaughlin H, Houlden H, Guo M, Yo-Tsen L, Hadjivassilious M, Speziani F, Yang XL, Antonellis A, Reilly MM, Züchner S; Inherited Neuropathy Consortium. Gonzalez M, et al. Among authors: houlden h. J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1247-9. doi: 10.1136/jnnp-2013-305049. Epub 2013 Jun 1. J Neurol Neurosurg Psychiatry. 2013. PMID: 23729695 Free PMC article.

2

Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.

Houlden H, King RH, Wood NW, Thomas PK, Reilly MM. Houlden H, et al. Brain. 2001 May;124(Pt 5):907-15. doi: 10.1093/brain/124.5.907. Brain. 2001. PMID: 11335693

3

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

Lee MJ, Nelson I, Houlden H, Sweeney MG, Hilton-Jones D, Blake J, Wood NW, Reilly MM. Lee MJ, et al. Among authors: houlden h. J Neurol Neurosurg Psychiatry. 2002 Sep;73(3):304-6. doi: 10.1136/jnnp.73.3.304. J Neurol Neurosurg Psychiatry. 2002. PMID: 12185164 Free PMC article.

4

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. Brain. 2002 Dec;125(Pt 12):2681-90. doi: 10.1093/brain/awf270. Brain. 2002. PMID: 12429595

5

Hereditary sensory neuropathies.

Houlden H, Blake J, Reilly MM. Houlden H, et al. 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. Ann Neurol. 2004 Oct;56(4):586-90. doi: 10.1002/ana.20281. Ann Neurol. 2004. PMID: 15455439

7

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. Ann Neurol. 2004 Nov;56(5):730-4. doi: 10.1002/ana.20267. Ann Neurol. 2004. PMID: 15470753

8

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. Brain. 2006 Feb;129(Pt 2):411-25. doi: 10.1093/brain/awh712. Epub 2005 Dec 19. Brain. 2006. PMID: 16364956

9

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

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

10

New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.

Houlden H, Groves M, Miedzybrodzka Z, Roper H, Willis T, Winer J, Cole G, Reilly MM. Houlden H, et al. J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1267-70. doi: 10.1136/jnnp.2007.118968. Epub 2007 Jun 19. J Neurol Neurosurg Psychiatry. 2007. PMID: 17578852 Free PMC article.

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