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Items: 25

1.

Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1.

Kugathasan U, Evans MRB, Morrow JM, Sinclair CDJ, Thornton JS, Yousry TA, Hornemann T, Suriyanarayanan S, Owusu-Ansah K, Lauria G, Lombardi R, Polke JM, Wilson E, Bennett DLH, Houlden H, Hanna MG, Blake JC, Laura M, Reilly MM.

J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):895-906. doi: 10.1136/jnnp-2018-320198. Epub 2019 Apr 17.

PMID:
30995999
2.

IGHMBP2 mutation associated with organ-specific autonomic dysfunction.

Tomaselli PJ, Horga A, Rossor AM, Jaunmuktane Z, Cortese A, Blake JC, Zarate-Lopez N, Houlden H, Reilly MM.

Neuromuscul Disord. 2018 Dec;28(12):1012-1015. doi: 10.1016/j.nmd.2018.08.010. Epub 2018 Aug 29.

3.

Synthesis and Characterization of ZnO/CuO Vertically Aligned Hierarchical Tree-like Nanostructure.

Li Z, Jia M, Abraham B, Blake JC, Bodine D, Newberg JT, Gundlach L.

Langmuir. 2018 Jan 23;34(3):961-969. doi: 10.1021/acs.langmuir.7b02840. Epub 2017 Oct 13.

PMID:
28968498
4.

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.

Tomaselli PJ, Rossor AM, Horga A, Laura M, Blake JC, Houlden H, Reilly MM.

J Peripher Nerv Syst. 2017 Dec;22(4):460-463. doi: 10.1111/jns.12235. Epub 2017 Sep 11.

5.

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.

Bugiardini E, Rossor AM, Lynch DS, Swash M, Pittman AM, Blake JC, Hanna MG, Houlden H, Holton JL, Reilly MM, Matthews E.

Neurol Genet. 2017 Jul 6;3(4):e168. doi: 10.1212/NXG.0000000000000168. eCollection 2017 Aug. No abstract available.

6.

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

Horga A, Laurà M, Jaunmuktane Z, Jerath NU, Gonzalez MA, Polke JM, Poh R, Blake JC, Liu YT, Wiethoff S, Bettencourt C, Lunn MP, Manji H, Hanna MG, Houlden H, Brandner S, Züchner S, Shy M, Reilly MM.

J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):575-585. doi: 10.1136/jnnp-2016-315077. Epub 2017 May 13.

7.

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

Tomaselli PJ, Rossor AM, Horga A, Jaunmuktane Z, Carr A, Saveri P, Piscosquito G, Pareyson D, Laura M, Blake JC, Poh R, Polke J, Houlden H, Reilly MM.

Neurology. 2017 Apr 11;88(15):1445-1453. doi: 10.1212/WNL.0000000000003819. Epub 2017 Mar 10.

8.

Synthesis of Hierarchical ZnO/CdSSe Heterostructure Nanotrees.

Li Z, Nieto-Pescador J, Carson AJ, Blake JC, Gundlach L.

J Vis Exp. 2016 Nov 29;(117). doi: 10.3791/54675.

9.

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.

Neurology. 2016 Oct 11;87(15):1607-1612. Epub 2016 Sep 14. Review.

10.

Ultraviolet femtosecond Kerr-gated wide-field fluorescence microscopy.

Blake JC, Nieto-Pescador J, Li Z, Gundlach L.

Opt Lett. 2016 Jun 1;41(11):2462-5. doi: 10.1364/OL.41.002462.

PMID:
27244389
11.

Efficient Z-scheme charge separation in novel vertically aligned ZnO/CdSSe nanotrees.

Li Z, Nieto-Pescador J, Carson AJ, Blake JC, Gundlach L.

Nanotechnology. 2016 Apr 1;27(13):135401. doi: 10.1088/0957-4484/27/13/135401. Epub 2016 Feb 19.

PMID:
26894995
12.
13.

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Horga A, Pitceathly RD, Blake JC, Woodward CE, Zapater P, Fratter C, Mudanohwo EE, Plant GT, Houlden H, Sweeney MG, Hanna MG, Reilly MM.

Brain. 2014 Dec;137(Pt 12):3200-12. doi: 10.1093/brain/awu279. Epub 2014 Oct 3.

14.

Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.

Cottenie E, Menezes MP, Rossor AM, Morrow JM, Yousry TA, Dick DJ, Anderson JR, Jaunmuktane Z, Brandner S, Blake JC, Houlden H, Reilly MM.

Neuromuscul Disord. 2013 May;23(5):399-403. doi: 10.1016/j.nmd.2013.01.010. Epub 2013 Mar 13.

PMID:
23489662
15.

Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing.

Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, Rossor AM, Polke JM, Castleman V, Manji H, Lunn MP, Bull K, Ramdharry G, Davis M, Blake JC, Houlden H, Reilly MM.

J Neurol Neurosurg Psychiatry. 2012 Jul;83(7):706-10. doi: 10.1136/jnnp-2012-302451. Epub 2012 May 10.

16.

Oral and dermal exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) induces cutaneous papillomas and squamous cell carcinomas in female hemizygous Tg.AC transgenic mice.

Wyde ME, Braen AP, Hejtmancik M, Johnson JD, Toft JD, Blake JC, Cooper SD, Mahler J, Vallant M, Bucher JR, Walker NJ.

Toxicol Sci. 2004 Nov;82(1):34-45. Epub 2004 Jul 28.

PMID:
15282402
17.

Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia.

Bradley JL, Blake JC, Chamberlain S, Thomas PK, Cooper JM, Schapira AH.

Hum Mol Genet. 2000 Jan 22;9(2):275-82.

PMID:
10607838
18.

Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures.

Blake JC, Taanman JW, Morris AM, Gray RG, Cooper JM, McKiernan PJ, Leonard JV, Schapira AH.

Am J Pathol. 1999 Jul;155(1):67-70.

19.

The pharmacokinetics of intravenous ondansetron in patients with hepatic impairment.

Blake JC, Palmer JL, Minton NA, Burroughs AK.

Br J Clin Pharmacol. 1993 Apr;35(4):441-3.

20.

Bleeding time in patients with hepatic cirrhosis.

Blake JC, Sprengers D, Grech P, McCormick PA, McIntyre N, Burroughs AK.

BMJ. 1990 Jul 7;301(6742):12-5.

21.

Severe hepatitis caused by cyproterone acetate.

Blake JC, Sawyerr AM, Dooley JS, Scheuer PJ, McIntyre N.

Gut. 1990 May;31(5):556-7.

22.

Metabolism of exogenous S-adenosyl-L-methionine in patients with liver disease.

Kaye GL, Blake JC, Burroughs AK.

Drugs. 1990;40 Suppl 3:124-8. Review.

PMID:
2081477
23.

2-Methyl-3,3-diphenyl-3-propanolamine (2-MDP) selectively antagonises N-methyl-aspartate (NMA).

Blake JC, Davies SN, Church J, Martin D, Lodge D.

Pharmacol Biochem Behav. 1986 Jan;24(1):23-5.

PMID:
3511477
24.

Case of progressive vaccinia.

BLAKE JC.

Br Med J. 1958 Aug 23;2(5094):492-3. No abstract available.

25.

Two attacks of meningitis with brief interval.

BLAKE JC.

Lancet. 1955 Feb 18;268(6860):383. No abstract available.

PMID:
13234391

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