Disease: Encephalopathy progressive optic atrophy
- A 24-Year-Old Man With Spastic Ataxia and Hypodontia
- Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels
- Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review
- Attenuating mitochondrial dysfunction and morphological disruption with PT320 delays dopamine degeneration in MitoPark mice
- Brain-Derived Neurotrophic Factor Val66Met is Associated with Variation in Cortical Structure in Healthy Aging Subjects
- Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel <em>de novo</em> heterozygous <em>DNM1L</em> variant
- Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant
- Cation leak through the ATP1A3 pump causes spasticity and intellectual disability
- Clinical Course and Visual Outcomes of Papilledema in Pediatric Cerebral Venous Sinus Thrombosis
- Diagnostic Yield of Investigations in Symmetric Optic Neuropathy
- Evaluation of the visual system with visual evoked potential and optical coherence tomography in patients with idiopathic Parkinson's disease and with multiple system atrophy
- Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
- Fundus Tessellated Density Assessed by Deep Learning in Primary School Children
- Good Gone Bad: Complications of Chemotherapy, Immunotherapy, and Radiotherapy on the CNS
- Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
- Homozygous <em>CNP</em> Mutation and Neurodegeneration in Weimaraners: Myelin Abnormalities and Accumulation of Lipofuscin-like Inclusions
- Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation
- Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation
- Isolated Methylmalonic Acidemia
- Mitochondrial optic neuropathies
- Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis
- Movement disorders in hereditary spastic paraplegias
- Natural History of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: a 4-Year Longitudinal Study
- Optic nerve sheath fenestration for visual impairment in cerebral venous diseases
- PallorMetrics: Software for Automatically Quantifying Optic Disc Pallor in Fundus Photographs, and Associations With Peripapillary RNFL Thickness
- Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort
- Progressive Optic Neuropathy in Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss Syndrome: The Importance of Targeted Gene Testing
- Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome
- Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation
- Risk factors associated with progression from papilloedema to optic atrophy: results from a cohort of 113 patients
- Studies of mutations of assembly factor Hit1 in budding yeast suggest translation defects as the molecular basis for PEHO syndrome
- The human OPA1(delTTAG) mutation induces adult onset and progressive auditory neuropathy in mice
- The human OPA1<sup>delTTAG</sup> mutation induces adult onset and progressive auditory neuropathy in mice
- Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels