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Items: 1 to 20 of 29

1.

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.

Pyle A, Ramesh V, Bartsakoulia M, Boczonadi V, Gomez-Duran A, Herczegfalvi A, Blakely EL, Smertenko T, Duff J, Eglon G, Moore D, Yu-Wai-Man P, Douroudis K, Santibanez-Koref M, Griffin H, Lochm├╝ller H, Karcagi V, Taylor RW, Chinnery PF, Horvath R.

J Neuromuscul Dis. 2014;1(1):55-63.

2.

Detection of the nonsense mutation of OPA3 gene in Holstein Friesian cattle with dilated cardiomyopathy in Japan.

Horiuchi N, Kumagai D, Matsumoto K, Inokuma H, Furuoka H, Kobayashi Y.

J Vet Med Sci. 2015 Oct;77(10):1281-3. doi: 10.1292/jvms.15-0150. Epub 2015 May 1.

3.

CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E.

Am J Hum Genet. 2015 Feb 5;96(2):258-65. doi: 10.1016/j.ajhg.2014.12.020. Epub 2015 Jan 15.

4.

'Behr syndrome' with OPA1 compound heterozygote mutations.

Carelli V, Sabatelli M, Carrozzo R, Rizza T, Schimpf S, Wissinger B, Zanna C, Rugolo M, La Morgia C, Caporali L, Carbonelli M, Barboni P, Tonon C, Lodi R, Bertini E.

Brain. 2015 Jan;138(Pt 1):e321. doi: 10.1093/brain/awu234. Epub 2014 Aug 21. No abstract available.

5.

Medical management of hereditary optic neuropathies.

La Morgia C, Carbonelli M, Barboni P, Sadun AA, Carelli V.

Front Neurol. 2014 Jul 31;5:141. doi: 10.3389/fneur.2014.00141. eCollection 2014. Review.

6.

Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

Yu-Wai-Man P, Chinnery PF.

Brain. 2014 Oct;137(Pt 10):e302. doi: 10.1093/brain/awu187. Epub 2014 Jul 10. No abstract available.

7.

The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 Mutations.

Lumish HS, Yang Y, Xia F, Wilson A, Chung WK.

JIMD Rep. 2014;16:75-9. doi: 10.1007/8904_2014_322. Epub 2014 Jul 6.

8.

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria.

Lam C, Gallo LK, Dineen R, Ciccone C, Dorward H, Hoganson GE, Wolfe L, Gahl WA, Huizing M.

Mol Genet Metab Rep. 2014 Jan 1;1:114-123.

9.
10.

Metabolic biology of 3-methylglutaconic acid-uria: a new perspective.

Su B, Ryan RO.

J Inherit Metab Dis. 2014 May;37(3):359-68. doi: 10.1007/s10545-013-9669-0. Epub 2014 Jan 10. Review.

11.

Mitochondrial fusion proteins and human diseases.

Ranieri M, Brajkovic S, Riboldi G, Ronchi D, Rizzo F, Bresolin N, Corti S, Comi GP.

Neurol Res Int. 2013;2013:293893. doi: 10.1155/2013/293893. Epub 2013 May 27.

12.

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.

Chen Y, Jia X, Wang P, Xiao X, Li S, Guo X, Zhang Q.

Mol Vis. 2013;19:292-302. Epub 2013 Feb 6.

13.

The optic nerve: a "mito-window" on mitochondrial neurodegeneration.

Maresca A, la Morgia C, Caporali L, Valentino ML, Carelli V.

Mol Cell Neurosci. 2013 Jul;55:62-76. doi: 10.1016/j.mcn.2012.08.004. Epub 2012 Aug 15. Review.

14.

Dominant optic atrophy.

Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D.

Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. Review.

15.

Mitochondrial dynamics in heart disease.

Dorn GW 2nd.

Biochim Biophys Acta. 2013 Jan;1833(1):233-41. doi: 10.1016/j.bbamcr.2012.03.008. Epub 2012 Mar 16. Review.

16.

Disorders of the optic nerve in mitochondrial cytopathies: new ideas on pathogenesis and therapeutic targets.

Sitarz KS, Chinnery PF, Yu-Wai-Man P.

Curr Neurol Neurosci Rep. 2012 Jun;12(3):308-17. doi: 10.1007/s11910-012-0260-0. Review.

17.

Mitochondrial disorders and the eye.

Schrier SA, Falk MJ.

Curr Opin Ophthalmol. 2011 Sep;22(5):325-31. doi: 10.1097/ICU.0b013e328349419d. Review.

18.

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.

Yu-Wai-Man P, Griffiths PG, Chinnery PF.

Prog Retin Eye Res. 2011 Mar;30(2):81-114. doi: 10.1016/j.preteyeres.2010.11.002. Epub 2010 Nov 26. Review.

19.

Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.

Yu-Wai-Man P, Shankar SP, Biousse V, Miller NR, Bean LJ, Coffee B, Hegde M, Newman NJ.

Ophthalmology. 2011 Mar;118(3):558-63. doi: 10.1016/j.ophtha.2010.07.029. Epub 2010 Oct 30.

20.

The 3-methylglutaconic acidurias: what's new?

Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E.

J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210-7. Epub 2010 Sep 30. Review.

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