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Year Number of Results
1963 1
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1993 1
1994 3
1995 2
1996 1
1997 2
1998 3
1999 3
2001 9
2002 11
2003 9
2004 10
2005 6
2006 8
2007 5
2008 6
2009 7
2010 7
2011 5
2012 10
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216 results

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Page 1
Mitochondrial Retinopathies.
Zeviani M, Carelli V. Zeviani M, et al. Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210. Int J Mol Sci. 2021. PMID: 35008635 Free PMC article. Review.
Retinal involvement occurs in two ways, retinal dystrophy (retinitis pigmentosa) and subacute or chronic optic atrophy, which are the most common clinical entities. Both can present as isolated or virtually exclusive conditions, or as part of more complex, frequentl …
Retinal involvement occurs in two ways, retinal dystrophy (retinitis pigmentosa) and subacute or chronic optic atrophy, which …
Mitochondrial optic neuropathies.
Carelli V, La Morgia C, Yu-Wai-Man P. Carelli V, et al. Handb Clin Neurol. 2023;194:23-42. doi: 10.1016/B978-0-12-821751-1.00010-5. Handb Clin Neurol. 2023. PMID: 36813316 Review.
Mitochondrial optic neuropathies have a leading role in the field of mitochondrial medicine ever since 1988, when the first mutation in mitochondrial DNA was associated with Leber's hereditary optic neuropathy (LHON). ...All forms of mitochondrial o …
Mitochondrial optic neuropathies have a leading role in the field of mitochondrial medicine ever since 1988, when the first mutation …
Mitochondrial Disorders.
Klopstock T, Priglinger C, Yilmaz A, Kornblum C, Distelmaier F, Prokisch H. Klopstock T, et al. Dtsch Arztebl Int. 2021 Nov 5;118(44):741-748. doi: 10.3238/arztebl.m2021.0251. Dtsch Arztebl Int. 2021. PMID: 34158150 Free PMC article. Review.
The only disease-modifying treatment that has been approved to date is idebenone for the treatment of Leber hereditary optic neuropathy. Intravitreal gene therapy has also been developed for the treatment of this disease; its approval by the European Medicine …
The only disease-modifying treatment that has been approved to date is idebenone for the treatment of Leber hereditary opti …
Developments in the Treatment of Leber Hereditary Optic Neuropathy.
Chen BS, Yu-Wai-Man P, Newman NJ. Chen BS, et al. Curr Neurol Neurosci Rep. 2022 Dec;22(12):881-892. doi: 10.1007/s11910-022-01246-y. Epub 2022 Nov 21. Curr Neurol Neurosci Rep. 2022. PMID: 36414808 Free PMC article. Review.
PURPOSEOF REVIEW: To outline the current landscape of treatments for Leber hereditary optic neuropathy (LHON) along the therapeutic delivery pipeline, exploring the mechanisms of action and evidence for these therapeutic approaches. ...
PURPOSEOF REVIEW: To outline the current landscape of treatments for Leber hereditary optic neuropathy (LHON) along the …
Visual impairment.
Ellenberger C. Ellenberger C. Handb Clin Neurol. 2016;136:887-903. doi: 10.1016/B978-0-444-53486-6.00045-4. Handb Clin Neurol. 2016. PMID: 27430448 Review.
This chapter can guide the use of imaging in the evaluation of common visual syndromes: transient visual disturbance, including migraine and amaurosis fugax; acute optic neuropathy complicating multiple sclerosis, neuromyelitis optica spectrum disorder, Leber her …
This chapter can guide the use of imaging in the evaluation of common visual syndromes: transient visual disturbance, including migraine and …
Current and Future Landscape in Genetic Therapies for Leber Hereditary Optic Neuropathy.
Shamsnajafabadi H, MacLaren RE, Cehajic-Kapetanovic J. Shamsnajafabadi H, et al. Cells. 2023 Aug 7;12(15):2013. doi: 10.3390/cells12152013. Cells. 2023. PMID: 37566092 Free PMC article. Review.
Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial genetic disease that causes blindness in young adults. ...
Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial genetic disease that causes blindness …
[Mitochondrial diseases].
Radelfahr F, Klopstock T. Radelfahr F, et al. Nervenarzt. 2019 Feb;90(2):121-130. doi: 10.1007/s00115-018-0666-2. Nervenarzt. 2019. PMID: 30643957 Review. German.
The clinical manifestation is often most severe in tissues with high energy demands. The most common MDs are Leber's hereditary optic neuropathy (LHON), chronic progressive external ophthalmoplegia (CPEO) and mitochondrial encephalomyopathy with lactic acidos …
The clinical manifestation is often most severe in tissues with high energy demands. The most common MDs are Leber's hereditary …
Hereditary Retinal Dystrophy.
Hohman TC. Hohman TC. Handb Exp Pharmacol. 2017;242:337-367. doi: 10.1007/164_2016_91. Handb Exp Pharmacol. 2017. PMID: 28035529 Review.
These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies include treatments for: Leber's congenital amaurosis type 2, caused by mutations to RPE65, retinoid isomerohydrolase; choroideremia, ca …
These studies provided the essential proof-of-concept needed to advance monogenic gene therapies into clinic development; these therapies in …
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D. Lenaers G, et al. Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. Orphanet J Rare Dis. 2012. PMID: 22776096 Free PMC article. Review.
DEFINITION OF THE DISEASE: Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life. ...Additional loci and ge …
DEFINITION OF THE DISEASE: Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degenerat …
Mitochondrial disorders and the eye.
Kisilevsky E, Freund P, Margolin E. Kisilevsky E, et al. Surv Ophthalmol. 2020 May-Jun;65(3):294-311. doi: 10.1016/j.survophthal.2019.11.001. Epub 2019 Nov 27. Surv Ophthalmol. 2020. PMID: 31783046 Review.
These disorders can affect all parts of the visual pathway (crystalline lens, extraocular muscles, retina, optic nerve, and retrochiasm). After the introduction reviewing mitochondrial structure and function, each disorder is reviewed in detail, including approaches to its …
These disorders can affect all parts of the visual pathway (crystalline lens, extraocular muscles, retina, optic nerve, and retrochia …
216 results