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.

January 14, 2022

Capturing the experiences of patients with inherited optic neuropathies: a systematic review of patient-reported outcome measures (PROMs) and qualitative studies.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie
Benson S ChenPatrick Yu-Wai-Man
January 14, 2022

Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome.

Journal of Inherited Metabolic Disease
S L van EsveldJ N Spelbrink
January 13, 2022

WFS1 gene associated diabetes phenotypes and identification of a founder mutation in Southern India.

The Journal of Clinical Endocrinology and Metabolism
Aaron ChaplaNihal Thomas
January 13, 2022

The Role of Mitochondrial Dynamic Dysfunction in Age-Associated Type 2 Diabetes.

The World Journal of Men's Health
Teresa VezzaVíctor M Víctor
January 12, 2022
Open Access

Exercise Preconditioning Blunts Early Atrogenes Expression and Atrophy in Gastrocnemius Muscle of Hindlimb Unloaded Mice.

International Journal of Molecular Sciences
Lorenza BroccaMaria Antonietta Pellegrino
January 12, 2022
Open Access

Mitochondrial Retinopathies.

International Journal of Molecular Sciences
Massimo Zeviani, Valerio Carelli
January 12, 2022
Open Access

Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.

International Journal of Environmental Research and Public Health
Giuseppina SalzanoFortunato Lombardo
January 12, 2022
Open Access

Bicalutamide Exhibits Potential to Damage Kidney via Destroying Complex I and Affecting Mitochondrial Dynamics.

Journal of Clinical Medicine
Kuan-Chou ChenRobert Y Peng
January 12, 2022

Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy.

Ophthalmic Genetics
Yi-Ran ChiouAn-Guor Wang
January 8, 2022
Open Access

Current Drug Repurposing Strategies for Rare Neurodegenerative Disorders.

Frontiers in Pharmacology
Sweta ShahMariana Igoillo-Esteve
December 31, 2021
Case Report
Open Access

Case Report: Off-Label Liraglutide Use in Children With Wolfram Syndrome Type 1: Extensive Characterization of Four Patients.

Frontiers in Pediatrics
Giulio FrontinoLorenzo Piemonti
December 25, 2021
Open Access

Use of Zebrafish Models to Boost Research in Rare Genetic Diseases.

International Journal of Molecular Sciences
Lucie CrouzierBenjamin Delprat
December 25, 2021
Open Access

Role of Oxidative Stress in Ocular Diseases Associated with Retinal Ganglion Cells Degeneration.

Eugene Yu-Chuan KangRong-Kung Tsai
December 23, 2021

Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene.

Audiology Research
Rosamaria SantarelliValerio Carelli

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