Chinnery P - Search Results

1

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.

Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, Macaya A, Lochmuller A, Fontaine B, Zurek B, Hernandez-Ferrer C, Reinhard C, Gómez-Andrés D, Desaphy JF, Schon K, Lohmann K, Jennings MJ, Synofzik M, Riess O, Yaou RB, Evangelista T, Ratnaike T, Bros-Facer V, Gumus G, Horvath R, Chinnery P, Laurie S, Graessner H, Robinson P, Lochmuller H, Beltran S, Bonne G. Atalaia A, et al. Among authors: chinnery p. Orphanet J Rare Dis. 2020 Aug 12;15(1):206. doi: 10.1186/s13023-020-01493-7. Orphanet J Rare Dis. 2020. PMID: 32787960 Free PMC article.

2

X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.

Hudson G, Carelli V, Horvath R, Zeviani M, Smeets HJ, Chinnery PF. Hudson G, et al. Mol Vis. 2007 Dec 21;13:2339-43. Mol Vis. 2007. PMID: 18199976

3

How can we treat mitochondrial encephalomyopathies? Approaches to therapy.

Horvath R, Gorman G, Chinnery PF. Horvath R, et al. Neurotherapeutics. 2008 Oct;5(4):558-68. doi: 10.1016/j.nurt.2008.07.002. Neurotherapeutics. 2008. PMID: 19019307 Free PMC article. Review.

4

Mitochondrial myopathies: developments in treatment.

Hassani A, Horvath R, Chinnery PF. Hassani A, et al. Curr Opin Neurol. 2010 Oct;23(5):459-65. doi: 10.1097/WCO.0b013e32833d1096. Curr Opin Neurol. 2010. PMID: 20651591 Review.

5

Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity.

Stewart JD, Horvath R, Baruffini E, Ferrero I, Bulst S, Watkins PB, Fontana RJ, Day CP, Chinnery PF. Stewart JD, et al. Among authors: chinnery pf. Hepatology. 2010 Nov;52(5):1791-6. doi: 10.1002/hep.23891. Hepatology. 2010. PMID: 21038416 Free PMC article.

6

AMACR mutations cause late-onset autosomal recessive cerebellar ataxia.

Dick D, Horvath R, Chinnery PF. Dick D, et al. Neurology. 2011 May 17;76(20):1768-70. doi: 10.1212/WNL.0b013e31821a4484. Neurology. 2011. PMID: 21576695 Free PMC article. No abstract available.

7

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations.

Payne BA, Wilson IJ, Hateley CA, Horvath R, Santibanez-Koref M, Samuels DC, Price DA, Chinnery PF. Payne BA, et al. Nat Genet. 2011 Jun 26;43(8):806-10. doi: 10.1038/ng.863. Nat Genet. 2011. PMID: 21706004 Free PMC article.

8

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion.

Bulst S, Holinski-Feder E, Payne B, Abicht A, Krause S, Lochmüller H, Chinnery PF, Walter MC, Horvath R. Bulst S, et al. Mol Genet Metab. 2012 Sep;107(1-2):95-103. doi: 10.1016/j.ymgme.2012.04.022. Epub 2012 May 3. Mol Genet Metab. 2012. PMID: 22608879 Free PMC article.

9

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome.

Marina AD, Schara U, Pyle A, Möller-Hartmann C, Holinski-Feder E, Abicht A, Czermin B, Lochmüller H, Griffin H, Santibanez-Koref M, Chinnery PF, Horvath R. Marina AD, et al. JIMD Rep. 2013;10:17-22. doi: 10.1007/8904_2012_195. Epub 2012 Nov 18. JIMD Rep. 2013. PMID: 23430795 Free PMC article.

10

Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.

Spyropoulos A, Manford M, Horvath R, Alston CL, Yu-Wai-Man P, He L, Taylor RW, Chinnery PF. Spyropoulos A, et al. Among authors: chinnery pf. JAMA Neurol. 2013 Dec;70(12):1552-5. doi: 10.1001/jamaneurol.2013.4111. JAMA Neurol. 2013. PMID: 24126373 Free PMC article.

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