Results 131 to 140 of about 1,452,519 (228)

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.

, 2002
To characterize the spectrum of mutations in the OPA1 gene in a large international panel of patients with autosomal dominant optic atrophy (adOA), to improve understanding of the range of functional deficits attributable to sequence variants in this ...
Andreasson, Sten, Van Regemorter, Nicole, Alexander, C, Andreasson, S., Munier, F.L., Eiberg, Hans Rudolf Lytchoff, Andreasson, S, Bhattacharya, SS, Bhattacharya, Shomi S., Rosenberg, T., Bhattacharya, S.S., Taanman, J.W., Moore, Anthony T., Rosenberg, Thomas, Thiselton, Dawn L, Munier, Francis, Thiselton, Dawn L., Taanman, J W, Thiselton, DL, Alexander, Christiane, Taanman, JW, Bhattacharya, Shomi S, Regemorter, Nicole van, Van Regemorter, N, Eiberg, Hans, Votruba, M., Votruba, M, Moore, A.T., Brooks, S, Eiberg, H, Rosenberg, T, Taanman, Jan-Willem, Munier, FL, Moore, Anthony T, Thiselton, D.L., Moore, AT, Munier, Francis L., Votruba, Marcela, Alexander, C., Brooks, S., Eiberg, H., Van Regemorter, N., Brooks, Simon   +42 more
core  

PYC-001, a Peptide Conjugated Oligonucleotide for the Treatment of Autosomal Dominant Optic Atrophy

Autosomal dominant optic atrophy (ADOA) is the most common form of inherited optic neuropathy, characterized by a progressive degeneration of the retinal ganglion cells, leading to bilateral vision loss.
Sri Mudumba; Janya Graynok; Sasiwimon Utama; Tracy Chai; Emily Woodward; Danie Champain; Ferrer Ong; Megan Thorne; Munik Tian; Grace Liu; Maria Kerfoot; Adam Martin; Paula Cunningham; Dean De Alvis
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Autosomal dominant optic atrophy and cataract [PDF]

, 2020
openaire   +1 more source

Walsh & Hoyt: Dominant Optic Neuropathy

, 2005
Autosomal dominant optic atrophy, type Kjer (McKusick no.
Nancy J. Newman, MD
core  

Mitochondrial Control of Myelination, Bioenergetics, Oxidative Stress, and the Pathogenesis of Optic Neuropathies. [PDF]

Int J Mol Sci
Sahibzada H, Malik R, Abu-Amero KK.
europepmc   +1 more source

The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect. [PDF]

Mol Genet Metab Rep
Unuakhalu R, Purcell A, Jindal I, Wu Y, Arnold M, Dominick KC, Shillington A.   +6 more
europepmc   +1 more source

Autosomal dominant optic atrophy plus syndrome [PDF]

, 2020
openaire   +1 more source

Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant. [PDF]

Am J Case Rep
Alanazi KA, Alosaimi SM, Alzuabi A.
europepmc   +1 more source

Autosomal dominant optic atrophy, classic form [PDF]

, 2020
openaire   +1 more source

Patient with two rare diseases-Renal coloboma syndrome and craniopharyngioma. [PDF]

Radiol Case Rep
Bancevica L, Apine I, Valeina S, Taurina G, Yaacoub WB, Franckevica I, Zaharova J, Malniece I, Baklasova A, Smite Laguna A, Kovalova Z.   +10 more
europepmc   +1 more source