M Zeviani, A Spinazzola - Current Neurology and Neuroscience Reports, 2003 - Springer Introduction Mitochondrial disorders are clinical phenotypes associated with
abnormalities of the terminal component of mito- chondrial energy metabolism
(ie, oxidative phosphoryla- tion [OXPHOS]). OXPHOS is carried out in the ... Cited by 373 - Related articles - BL Direct - All 20 versions
- ►usc.edu [PDF] V Carelli, FN Ross-Cisneros, AA Sadun - Progress in retinal and eye research, 2004 - Elsevier Mitochondria are increasingly recognized as central players in the life and
death of cells and especially of neurons. The energy-dependence of retinal
ganglion cells (RGC) and their axons, which form the optic nerve, is ... Cited by 153 - Related articles - All 8 versions
- ►bmj.com PYW Man, DM Turnbull, PF Chinnery - British Medical Journal, 2002 - jmg.bmj.com Leber hereditary optic neuropathy (LHON) is a mitochondrial genetic disease that
preferentially causes blindness in young adult males, affecting about 1 in 25
000 of the British population. It is characterised by bilateral subacute ... Cited by 144 - Related articles - BL Direct - All 14 versions
- ►kaifuwu.com [PDF] V Carelli, FN Ross-Cisneros, AA Sadun - Neurochemistry international, 2002 - Elsevier Biochemical and cellular studies in LHON point to a partial defect of
respiratory chain function that may generate either an ATP synthesis defect
and/or a chronic increase of oxidative stress. Histopathological studies in ... Cited by 106 - Related articles - BL Direct - All 7 versions
- ►nih.gov [PDF] AA Sadun, PH Win, FN Ross-Cisneros, SO … - Transactions of the American Ophthalmological Society, 2000 - pubmedcentral.nih.gov Purpose: Leber's hereditary optic neuropathy (LHON), though known to be due to 1
of 3 pathogenic mtDNA point mutations (nucleotide positions 11778, 3460, and
14484), usually manifests itself acutely in young adulthood with a ... Cited by 64 - Related articles - BL Direct - All 3 versions
- ►bmj.com PF Chinnery, EA Schon - British Medical Journal, 2003 - jnnp.bmj.com Following the discovery in the early 1960s that mitochondria contain their own
DNA (mtDNA), there were two major advances, both in the 1980s: the human mtDNA
sequence was published in 1981, and in 1988 the first pathogenic mtDNA ... Cited by 63 - Related articles - BL Direct - All 7 versions
JB Kerrison, NR Miller, FC Hsu, TH Beaty, … - American journal of ophthalmology, 2000 - Elsevier RESULTS: For male probands (67 sibships), the recurrence risk within a sibship
was 10.3% (eight of 78) for males and 3.1% (three of 98) for females. For female
probands (13 sibships), the recurrence risk within a sibship was 17.6% ... Cited by 57 - Related articles - BL Direct - All 9 versions
AA Sadun, V Carelli, SR Salomao, A … - American journal of ophthalmology, 2003 - Elsevier These results, and portions of the figures and tables, have been previously
presented at the 2002 American Ophthalmological Association (AOS) and for
publication by the Transactions of the American Ophthalmological Society, ... Cited by 43 - Related articles - All 6 versions
V Biousse, NJ Newman - Seminars in Neurology, 2001 - thieme-connect.com The mitochondrial diseases are a heterogeneous group of disorders in which
clinical presentation, inheritance, biochemical or genetic analysis, or
histopathology suggest primary mitochondrial dysfunction.[1] - [20] Each ... Cited by 33 - Related articles - BL Direct - All 6 versions
