Results 151 to 160 of about 1,459,190 (233)

Myelin Impairment and Regeneration in the Central Nervous System: Molecular Mechanisms, Diseases, and Prospective Therapeutic Targets

MedComm, Volume 7, Issue 10, October 2026.
Proper myelin formation is crucial for normal neural circuit function, while myelin deficiency can lead to neural circuit dysfunction and cognitive decline, notably in Alzheimer's disease and other central nervous system demyelinating disorders. This review summarizes central myelin's structure and function, demyelination biomarkers and pathological ...
Lihong Huang, Peng Cheng, Guangdong Liu, Yang Xiang, Zhen Hong, Weidong Le   +5 more
wiley   +1 more source

Does acute loss of vision in Autosomal Dominant Optic Atrophy occur early in childhood?

, 2010
Purpose:In contrast to Autosomal dominant optic atrophy (ADOA), acute loss of vision is normally observed in Leber's hereditary optic neuropathy (LHON) patients.
Kearns, Lisa S., Kearns, LS, Forrest, Michael, Churchill, Amanda J., Cohn, AC, Cohn, Amy C., Mackey, David A., Mackey, DA, Forrest, M, Churchill, AJ   +9 more
core   +1 more source

Colour-centred Release Hallucinations in a Patient with Early Parkinson's Disease and Unrecognised Autosomal Dominant Optic Atrophy. [PDF]

Neuroophthalmology, 2021
Hardwick M, Heath D, Saha R, Cooper S.
europepmc   +1 more source

UCHL1-Related Dominant Optic Atrophy: Report of Two New Families

Neuro-ophthalmology (Aeolus Press. 1980)
Previously, biallelic variants in ubiquitin carboxy-terminal hydrolase L1 (UCHL1) have been associated with spastic paraplegia type 79, an autosomal recessive early-onset neurodegenerative disorder.
N. S. Lee, John R. Grigg, Zornitza Stark, Kate Ahmad   +3 more
semanticscholar   +1 more source

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
core  

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  

Autosomal dominant optic atrophy plus syndrome [PDF]

, 2020
openaire   +1 more source

Autosomal dominant optic atrophy, classic form [PDF]

, 2020
openaire   +1 more source