Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 188

1.

Homoplasmy, heteroplasmy, and mitochondrial dystonia.

McFarland R, Chinnery PF, Blakely EL, Schaefer AM, Morris AA, Foster SM, Tuppen HA, Ramesh V, Dorman PJ, Turnbull DM, Taylor RW.

Neurology. 2007 Aug 28;69(9):911-6.

PMID:
17724295
2.

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, Olivieri A, Zanna C, Vidoni S, Tonon C, Lodi R, Vetrugno R, Mostacci B, Liguori R, Carroccia R, Montagna P, Rugolo M, Torroni A, Carelli V.

Neurology. 2008 Mar 4;70(10):762-70. doi: 10.1212/01.wnl.0000295505.74234.d0.

PMID:
18216301
3.

Leber's hereditary optic neuropathy with dystonia in a Japanese family.

Watanabe M, Mita S, Takita T, Goto Y, Uchino M, Imamura S.

J Neurol Sci. 2006 Apr 15;243(1-2):31-4.

PMID:
16380132
4.

Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.

Gropman A, Chen TJ, Perng CL, Krasnewich D, Chernoff E, Tifft C, Wong LJ.

Am J Med Genet A. 2004 Feb 1;124A(4):377-82.

PMID:
14735585
5.

Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report.

Kim IS, Ki CS, Park KJ.

J Korean Med Sci. 2010 Jan;25(1):180-4. doi: 10.3346/jkms.2010.25.1.180.

6.

Pathogenic mitochondrial DNA mutations and associated clinical features in Korean patients with Leber's hereditary optic neuropathy.

Yum HR, Chae H, Shin SY, Kim Y, Kim M, Park SH.

Invest Ophthalmol Vis Sci. 2014 Oct 23;55(12):8095-101. doi: 10.1167/iovs.14-15311.

PMID:
25342614
7.

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.

Tuppen HA, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM, Taylor RW.

J Med Genet. 2008 Jan;45(1):55-61. doi: 10.1136/jmg.2007.051185.

PMID:
18178636
8.

Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations.

Howell N, Miller NR, Mackey DA, Arnold A, Herrnstadt C, Williams IM, Kubacka I.

J Neuroophthalmol. 2002 Dec;22(4):262-9.

PMID:
12464729
9.

A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

Spruijt L, Smeets HJ, Hendrickx A, Bettink-Remeijer MW, Maat-Kievit A, Schoonderwoerd KC, Sluiter W, de Coo IF, Hintzen RQ.

Arch Neurol. 2007 Jun;64(6):890-3.

PMID:
17562939
10.

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.

De Vries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RM, Bolhuis PA, van Oost BA.

Am J Hum Genet. 1996 Apr;58(4):703-11.

11.

mtDNA m.3635G>A may be classified as a common primary mutation for Leber hereditary optic neuropathy in the Chinese population.

Jia X, Li S, Wang P, Guo X, Zhang Q.

Biochem Biophys Res Commun. 2010 Dec 10;403(2):237-41. doi: 10.1016/j.bbrc.2010.11.017.

PMID:
21074518
12.

[Leber hereditary optic neuropathy: Usefulness of next generation sequencing to study mitochondrial mutations on apparent homoplasmy].

Carrasco Salas P, Palma Milla C, López Montiel J, Benito C, Franco Freire S, López Siles J.

Med Clin (Barc). 2016 Feb 19;146(4):163-6. doi: 10.1016/j.medcli.2015.10.015. Spanish.

PMID:
26683077
13.

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.

Zsurka G, Hampel KG, Nelson I, Jardel C, Mirandola SR, Sassen R, Kornblum C, Marcorelles P, Lavoué S, Lombès A, Kunz WS.

Neurology. 2010 Feb 9;74(6):507-12. doi: 10.1212/WNL.0b013e3181cef7ab.

PMID:
20142618
14.

Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients.

Zhang AM, Jia X, Guo X, Zhang Q, Yao YG.

J Transl Med. 2012 Mar 9;10:43. doi: 10.1186/1479-5876-10-43.

15.

Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.

Qian Y, Zhou X, Hu Y, Tong Y, Li R, Lu F, Yang H, Mo JQ, Qu J, Guan MX.

Biochem Biophys Res Commun. 2005 Jul 1;332(2):614-21.

PMID:
15896721
16.

Rapid quantification of the heteroplasmy of mutant mitochondrial DNAs in Leber's hereditary optic neuropathy using the Invader technology.

Mashima Y, Nagano M, Funayama T, Zhang Q, Egashira T, Kudho J, Shimizu N, Oguchi Y.

Clin Biochem. 2004 Apr;37(4):268-76.

PMID:
15003728
17.

A simple oligonucleotide biochip capable of rapidly detecting known mitochondrial DNA mutations in Chinese patients with Leber's hereditary optic neuropathy (LHON).

Du WD, Chen G, Cao HM, Jin QH, Liao RF, He XC, Chen DB, Huang SR, Zhao H, Lv YM, Tang HY, Tang XF, Wang YQ, Sun S, Zhao JL, Zhang XJ.

Dis Markers. 2011;30(4):181-90. doi: 10.3233/DMA-2011-0767.

18.

Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation.

Ji Y, Zhang AM, Jia X, Zhang YP, Xiao X, Li S, Guo X, Bandelt HJ, Zhang Q, Yao YG.

Am J Hum Genet. 2008 Dec;83(6):760-8. doi: 10.1016/j.ajhg.2008.11.002.

19.

Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.

Tranebjaerg L, Jensen PK, Van Ghelue M, Vnencak-Jones CL, Sund S, Elgjo K, Jakobsen J, Lindal S, Warburg M, Fuglsang-Frederiksen A, Skullerud K.

Ophthalmic Genet. 2001 Dec;22(4):207-23.

PMID:
11803487
20.

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Swalwell H, Blakely EL, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns DK, Turnbull DM, Haller RG, Davidson MM, Taylor RW.

Eur J Hum Genet. 2008 Oct;16(10):1265-74. doi: 10.1038/ejhg.2008.65.

Supplemental Content

Support Center