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Year Number of Results
1989 3
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2002 2
2003 5
2004 3
2005 3
2006 4
2007 3
2008 4
2009 7
2010 10
2011 6
2012 7
2013 8
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2015 4
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114 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 …
Dominant optic atrophy: Culprit mitochondria in the optic nerve.
Lenaers G, Neutzner A, Le Dantec Y, Jüschke C, Xiao T, Decembrini S, Swirski S, Kieninger S, Agca C, Kim US, Reynier P, Yu-Wai-Man P, Neidhardt J, Wissinger B. Lenaers G, et al. Prog Retin Eye Res. 2021 Jul;83:100935. doi: 10.1016/j.preteyeres.2020.100935. Epub 2020 Dec 17. Prog Retin Eye Res. 2021. PMID: 33340656 Free article. Review.
Dominant optic atrophy (DOA) is an inherited mitochondrial disease leading to specific degeneration of retinal ganglion cells (RGCs), thus compromising transmission of visual information from the retina to the brain. ...The many OPA1 isoforms, resulting from …
Dominant optic atrophy (DOA) is an inherited mitochondrial disease leading to specific degeneration of retinal ganglion …
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.
Autosomal dominant optic atrophy (DOA) was subsequently associated in 2000 with mutations in the nuclear DNA affecting the OPA1 gene. ...All forms of mitochondrial optic neuropathies, including LHON and DOA, can manifest either as pure optic …
Autosomal dominant optic atrophy (DOA) was subsequently associated in 2000 with mutations in the nuclear DNA aff …
Wolfram Syndrome 1: From Genetics to Therapy.
Rigoli L, Caruso V, Salzano G, Lombardo F. Rigoli L, et al. Int J Environ Res Public Health. 2022 Mar 9;19(6):3225. doi: 10.3390/ijerph19063225. Int J Environ Res Public Health. 2022. PMID: 35328914 Free PMC article. Review.
Wolfram syndrome 1 (WS1) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. It is characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and sensorineural hearing loss (D) (DIDMOAD). ...However, abno …
Wolfram syndrome 1 (WS1) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. It is characterized by diabe …
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
de Muijnck C, Brink JBT, Bergen AA, Boon CJF, van Genderen MM. de Muijnck C, et al. Surv Ophthalmol. 2023 Jul-Aug;68(4):641-654. doi: 10.1016/j.survophthal.2023.01.012. Epub 2023 Feb 9. Surv Ophthalmol. 2023. PMID: 36764396 Free article. Review.
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic atrophy, hearing impairment, and diabetes mellitus. ...In total, 86 patie …
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal …
ATP1A3-related disorders: An update.
Carecchio M, Zorzi G, Ragona F, Zibordi F, Nardocci N. Carecchio M, et al. Eur J Paediatr Neurol. 2018 Mar;22(2):257-263. doi: 10.1016/j.ejpn.2017.12.009. Epub 2017 Dec 21. Eur J Paediatr Neurol. 2018. PMID: 29291920 Review.
Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have …
Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cav …
OPA1 (dys)functions.
Landes T, Leroy I, Bertholet A, Diot A, Khosrobakhsh F, Daloyau M, Davezac N, Miquel MC, Courilleau D, Guillou E, Olichon A, Lenaers G, Arnauné-Pelloquin L, Emorine LJ, Belenguer P. Landes T, et al. Semin Cell Dev Biol. 2010 Aug;21(6):593-8. doi: 10.1016/j.semcdb.2009.12.012. Epub 2010 Jan 4. Semin Cell Dev Biol. 2010. PMID: 20045077 Review.
This review focuses on OPA1, one of the few known actors of inner membrane dynamics, whose mutations provoke an optic neuropathy. Since its first identification in 2000 the characterization of the functions of OPA1 has made rapid progress thus providing numerous clues to u …
This review focuses on OPA1, one of the few known actors of inner membrane dynamics, whose mutations provoke an optic neuropathy. Sin …
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 …
DEFINITION OF THE DISEASE: Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral de …
Pigmented Paravenous Chorioretinal Atrophy (PPCRA).
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:111-113. doi: 10.1007/978-3-319-95046-4_22. Adv Exp Med Biol. 2018. PMID: 30578495 Review.
As the name suggests, in pigmented paravenous chorioretinal atrophy (PPCRA), patches of chorioretinal atrophy and pigment clumping are distributed along the veins (Figs. 22.1 and 22.2). In most cases, the retinal vessels, macula, and optic discs are normal, a …
As the name suggests, in pigmented paravenous chorioretinal atrophy (PPCRA), patches of chorioretinal atrophy and pigment clum …
OPA1: How much do we know to approach therapy?
Del Dotto V, Fogazza M, Lenaers G, Rugolo M, Carelli V, Zanna C. Del Dotto V, et al. Pharmacol Res. 2018 May;131:199-210. doi: 10.1016/j.phrs.2018.02.018. Epub 2018 Feb 15. Pharmacol Res. 2018. PMID: 29454676 Review.
All this new information, by implementing our knowledge on OPA1 is instrumental to elucidating the pathogenic mechanisms of OPA1 mutations. Indeed, these are associated with dominant optic atrophy (DOA), one of the most common inherited optic neuropath …
All this new information, by implementing our knowledge on OPA1 is instrumental to elucidating the pathogenic mechanisms of OPA1 mutations. …
114 results