Blake JC - Search Results

1

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.

Horga A, Tomaselli PJ, Gonzalez MA, Laurà M, Muntoni F, Manzur AY, Hanna MG, Blake JC, Houlden H, Züchner S, Reilly MM. Horga A, et al. Among authors: blake jc. Neurology. 2016 Oct 11;87(15):1607-1612. doi: 10.1212/WNL.0000000000003212. Epub 2016 Sep 14. Neurology. 2016. PMID: 27629094 Free PMC article. Review.

2

Distal myopathy with tubular aggregates: a new phenotype associated with multiple deletions in mitochondrial DNA?

Garrard P, Blake J, Stinton V, Hanna MG, Reilly MM, Holton JL, Landon DN, Honan WP. Garrard P, et al. J Neurol Neurosurg Psychiatry. 2002 Aug;73(2):207-8. doi: 10.1136/jnnp.73.2.207. J Neurol Neurosurg Psychiatry. 2002. PMID: 12122190 Free PMC article. No abstract available.

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. 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

Reliability and validity of the CMT neuropathy score as a measure of disability.

Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, Li J, Lewis RA, Reilly M. Shy ME, et al. Neurology. 2005 Apr 12;64(7):1209-14. doi: 10.1212/01.WNL.0000156517.00615.A3. Neurology. 2005. PMID: 15824348 Clinical Trial.

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

8

The use of nerve and muscle biopsy in the diagnosis of vasculitis: a 5 year retrospective study.

Bennett DL, Groves M, Blake J, Holton JL, King RH, Orrell RW, Ginsberg L, Reilly MM. Bennett DL, et al. J Neurol Neurosurg Psychiatry. 2008 Dec;79(12):1376-81. doi: 10.1136/jnnp.2008.151126. Epub 2008 Sep 26. J Neurol Neurosurg Psychiatry. 2008. PMID: 18819942 Free PMC article.

9

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2.

Houlden H, Laura M, Wavrant-De Vrièze F, Blake J, Wood N, Reilly MM. Houlden H, et al. Neurology. 2008 Nov 18;71(21):1660-8. doi: 10.1212/01.wnl.0000319696.14225.67. Epub 2008 Oct 1. Neurology. 2008. PMID: 18832141

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. 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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