Hereditary Optic Atrophy

Hereditary optic atrophy is a mitochondrially inherited disease that results in bilateral subacute loss of central vision due to degeneration of retinal ganglion cells and the optic nerve. Here is the latest research.

June 13, 2020

Isolation and Analysis of Mitochondrial Fission Enzyme DNM1 from Saccharomyces cerevisiae

Methods in Molecular Biology
Nolan W KennedyR Blake Hill
July 30, 2020
Open Access

The molecular effect of a polymorphic microRNA binding site of Wolfram syndrome 1 gene in dogs

BMC Genetics
Dora KollerZsolt Ronai
July 28, 2020
Review

Genetic forms of neurohypophyseal diabetes insipidus

Best Practice & Research. Clinical Endocrinology & Metabolism
Martin SpiessJonas Rutishauser
August 3, 2020

Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

Metabolic Brain Disease
Agnieszka Piotrowska-NowakEwa Bartnik
July 11, 2020

F10, a new camptothecin derivative, was identified as a new orally-bioavailable, potent antitumor agent

European Journal of Medicinal Chemistry
Shu FanSan-Qi Zhang
July 9, 2020

Telemedicine During the COVID-19 Pandemic: Impact on Care for Rare Cancers

JCO Global Oncology
Alannah SmrkeRobin L Jones
June 7, 2020
Open Access

Early tumor shrinkage identifies long-term disease control and survival in patients with lung cancer treated with atezolizumab

Journal for Immunotherapy of Cancer
Ashley M HopkinsMichael J Sorich
June 11, 2020

Monogenic and syndromic diabetes due to endoplasmic reticulum stress

Journal of Diabetes and Its Complications
Stephen I StoneFumihiko Urano
May 18, 2020

Monogenic Diabetes: A Single Center Experience From South India

Pediatric Diabetes
L Nivethitha KarthikaGeetha Lakshmi
June 24, 2020

Screening gastroscopy in Germany - first results of the pilot phase of the Prä-GIT study

Zeitschrift für Gastroenterologie
Alanna EbigboHelmut Messmann
May 12, 2020
Open Access

Comparison of Lamina Cribrosa Morphology in Normal Tension Glaucoma and Autosomal-Dominant Optic Atrophy

Investigative Ophthalmology & Visual Science
Gyu-Nam KimTae-Woo Kim
June 18, 2020
Open Access

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy

Neurology. Genetics
Majida CharifGuy Lenaers
July 30, 2020
Open Access

Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy

The Journal of Biological Chemistry
Yanchun JiMin-Xin Guan

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