- ►nih.gov - Free from Publisher KK Abu-Amero, TM Bosley, S Bohlega, D … - British Journal of Ophthalmology, 2005 - bjo.bmj.com (A) Fundus photograph of left optic disc showing hyperaemia and peripapillary
telangiectasias. The right disc had a similar appearance. (B) Intravenous
fluorescein angiogram of left optic disc confirming tortuous vessels with ... Cited by 1 - Related articles - All 8 versions
K Setterfield, AJ Williams, J Donald, DR … - Mitochondrion, 2002 - Elsevier We have developed a flow cytometric assay to measure the oxidative capacity of
cultured lymphoblasts as a possible screening test for patients suspected of
having a defect of the mitochondrial respiratory chain. Cells were ... Cited by 4 - Related articles - All 3 versions
MA Tarnopolsky, SK Baker, T Myint, CE Maxner … - AMERICAN JOURNAL OF MEDICAL GENETICS PART …, 2004 - interscience.wiley.com Spasticity and dystonia have been associated with mitochondrial (mt) DNA
mutations at A11696G, G14459A, and T14596A. We describe the clinical features
and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine ... Cited by 13 - Related articles - BL Direct - All 4 versions
L Spruijt, HJ Smeets, A Hendrickx, MW … - Archives of neurology, 2007 - Am Med Assoc Design Leber hereditary optic neuropathy is a mitochondrial disorder
characterized by isolated central visual loss. Of patients with LHON, 95% carry
a mutation in 1 of 3 mitochondrial DNA–encoded complex I genes. The ... Cited by 6 - Related articles - BL Direct - All 6 versions
M Watanabe, S Mita, T Takita, Y Goto, M … - Journal of the neurological sciences, 2006 - Elsevier We investigated a Japanese family with generalized dystonia attributed to
striatal degeneration, which occurred in childhood, and late-onset optic
neuropathy. We determined the entire nucleotide sequence of mitochondrial ... Cited by 3 - Related articles - All 13 versions
KK Abu-Amero, TM Bosley, S Bohlega, E … - Ophthalmic Genetics, 2005 - informahealthcare.com Purpose: To assess the functional significance of the mitochondrial nt-9957
mutation in a man with non-arteritic ischemic optic neuropathy (NAION). This
nt-9957 mutation has been previously reported in association with ... Cited by 10 - Related articles - All 6 versions
N Morimoto, I Nagano, K Deguchi, T Murakami … - Neurology, 2004 - AAN Enterprises Although most cases are isolated reports, a recent series of 22 patients
collected during a 24-year period was published with clinical outcomes. 2 Common
etiologies included total hip arthro- plasty, pelvic surgery, and pelvic ... Cited by 9 - Related articles - All 3 versions
RGE van Eijsden, M Gerards, LMT Eijssen, A … - Genetics in Medicine, 2006 - journals.lww.com From the Department of 1 Clinical Genetics, 2 Research Institute Growth and
Development (GROW), 3 Department of Population Genetics, Genomics and
Bioinformatics, and the 4 Cardiovascular Research Institute Maastricht ... Cited by 15 - Related articles - BL Direct - All 3 versions
EL Blakely, R de Silva, A King, V Schwarzer, … - European Journal of Human Genetics, 2005 - nature.com Pathogenic point mutations in the mitochondrial MTND1 gene have previously been
described in association with two distinct clinical phenotypes – Leber
hereditary optic neuropathy (LHON) and mitochondrial myopathy, ... Cited by 18 - Related articles - All 4 versions
A Gropman, TJ Chen, CL Perng, D Krasnewich, … - American Journal of Medical Genetics Part A, 2004 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 19 - Related articles - BL Direct - All 5 versions
