Results 1 to 10 of about 1,067 (123)

New avenues for therapy in mitochondrial optic neuropathies

Therapeutic Advances in Rare Disease, 2021
Mitochondrial optic neuropathies are a group of optic nerve atrophies exemplified by the two commonest conditions in this group, autosomal dominant optic atrophy (ADOA) and Leber’s hereditary optic neuropathy (LHON).
Wing Sum Vincent Ng, Matthieu Trigano, Thomas Freeman, Carmine Varrichio, Dinesh Kumar Kandaswamy, Ben Newland, Andrea Brancale, Malgorzata Rozanowska, Marcela Votruba   +8 more
doaj   +1 more source

Síndrome de Brown-Vialleto-Van Laere: relato de dois casos Brown-Vialetto-van Laere syndrome: report of two cases

Arquivos de Neuro-Psiquiatria, 1995
A síndrome de Brown-Vialetto-van Laere é entidade degenerativa hereditária ou esporádica, rara, caracterizada por surdez neuro-sensorial seguida ou acompanhada por uma variedade de alterações de nervos cranianos, podendo ainda ocorrer acometimento de ...
José Teotonio De Oliveira, Paulo Roberto R. Moreira, Francisco Cardoso, Francisco Otaviano Lima Perpétuo   +3 more
doaj   +1 more source

A yeast-based screening assay identifies repurposed drugs that suppress mitochondrial fusion and mtDNA maintenance defects

Disease Models & Mechanisms, 2019
Mitochondria continually move, fuse and divide, and these dynamics are essential for the proper function of the organelles. Indeed, the dynamic balance of fusion and fission of mitochondria determines their morphology and allows their immediate ...
Thomas Delerue, Déborah Tribouillard-Tanvier, Marlène Daloyau, Farnoosh Khosrobakhsh, Laurent Jean Emorine, Gaëlle Friocourt, Pascale Belenguer, Marc Blondel, Laetitia Arnauné-Pelloquin   +8 more
doaj   +1 more source

Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

BMC Medical Genetics, 2012
Background Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark. Methods Index patients from 93 unrelated ADOA families were assessed for a common Danish founder mutation (c.2826_2836delinsGGATGCTCCA) inOPA1 ...
Almind Gitte J, Ek Jakob, Rosenberg Thomas, Eiberg Hans, Larsen Michael, LuCamp LuCamp, Brøndum-Nielsen Karen, Grønskov Karen   +7 more
doaj   +1 more source

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy

Molecular Neurodegeneration, 2010
Background Up to the 1950s, there was an ongoing debate about the diversity of hereditary optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to Leber's hereditary optic neuropathy (LHON) or represent different ...
Zrenner Eberhart, Auburger Georg, Alexander Christiane, Leo-Kottler Beate, Kamenisch York, Schimpf Simone, Fuhrmann Nico, Wissinger Bernd, Alavi Marcel V   +8 more
doaj   +1 more source

[Genetic basis of hereditary optic atrophies].

Klinika oczna, 2008
The most common forms of optic atrophy are: autosomatic dominant optic atrophy (ADOA, Kjer type) and maternally-inherited Leber's hereditary optic neuropathy. Rare forms of hereditary optic neuropathies are: optic atrophy X-linked and autosomatic recessive form of optic atrophy.
Anna, Wawrocka, Maciej R, Krawczyński
openaire   +2 more sources

THE AGE OF ONSET IN HEREDITARY OPTIC ATROPHY [PDF]

Annals of Eugenics, 1928
The articles published by the Annals of Eugenics (1925–1954) have been made available online as an historical archive intended for scholarly use. The work of eugenicists was often pervaded by prejudice against racial, ethnic and disabled groups. The online publication of this material for scholarly research purposes is not an endorsement of those views
openaire   +1 more source

Identifying NDUFA12 mutation in a Saudi family: An unusual presentation of mitochondrial Complex I deficiency mimicking as idiopathic intracranial hypertension in a patient with papilledema and visual loss. [PDF]

J Family Community Med
Alshamrani FJ, Alajmi MS, Almuslim NI, Alsubaie MM, Fardan GM, Alabdali MM.   +5 more
europepmc   +1 more source

MetabOCT: a clinical trial looking for a metabolomic signature predicting the onset of Leber's hereditary optic neuropathy in healthy MtDNA mutations carriers. [PDF]

Metabolomics
Orssaud C, Reynier P.
europepmc   +1 more source

A Rare Case of Wolfram Syndrome in a 27-Year-Old Male From Nepal. [PDF]

Cureus
Shah TP, Sidlow R, Sah PK.
europepmc   +1 more source