Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Two detrimental mutations in cattle mitogenome indicate the presence of Leber's hereditary optic neuropathy [PDF]
Journal of Central European Agriculture, 2019 While mitochondriopathies, mitochondrial diseases, caused by mutations in mitochondrial DNA (mtDNA), are well documented in humans, single pathogenic mtDNA mutation or disorders are unknown in livestock populations.
Dinko Novosel +4 more
doaj +1 more source
European mtDNA Variants Are Associated With Differential Responses to Cisplatin, an Anticancer Drug: Implications for Drug Resistance and Side Effects. [PDF]
, 2019 Background: Cisplatin, a powerful antitumor agent, causes formation of DNA adducts, and activation of apoptotic pathways. Presently, cisplatin resistance develops in up to 70% of patients but the underlying molecular mechanism(s) are unclear and there ...
Abedi, Sina +13 more
core +1 more source
A Novel Genetic Screen Identifies Modifiers of Age-Dependent Amyloid β Toxicity in the Drosophila Brain [PDF]
, 2017 The accumulation of amyloid β peptide (Aβ) in the brain of Alzheimer's disease (AD) patients begins many years before clinical onset. Such process has been proposed to be pathogenic through the toxicity of Aβ soluble oligomers leading to synaptic ...
Belfiori Carrasco, Lautaro Francisco +5 more
core +1 more source
Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro +10 more
wiley +1 more source
Topographic mapping of retinal function with the SLO-mfERG under simultaneous control of fixation in Best's disease [PDF]
, 2003 Purpose: To introduce the scanning laser ophthalmoscope-evoked mfERG (SLO-mfERG) as a new method to measure focal retinal function. Methods: Sixty-two healthy individuals and 12 patients with Best's disease were examined.
Kalpadakis, P., Rudolph, G.
core +1 more source
Applying an Ethical Lens to the Treatment of People With Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The practice of neurology requires an understanding of clinical ethics for decision‐making. In multiple sclerosis (MS) care, there are a wide range of ethical considerations that may arise. These involve shared decision‐making around selection of a disease‐modifying therapy (DMT), risks and benefits of well‐studied medications in comparison to
Methma Udawatta, Farrah J. Mateen
wiley +1 more source
Mechanism of action of VP1-001 in cryAB(R120G)-associated and age-related cataracts [PDF]
, 2019 PurposeWe previously identified an oxysterol, VP1-001 (also known as compound 29), that partially restores the transparency of lenses with cataracts. To understand the mechanism of VP1-001, we tested the ability of its enantiomer, ent-VP1-001, to bind ...
Andley, Usha P. +10 more
core +2 more sources
Ocular hypertension in myopia: analysis of contrast sensitivity [PDF]
, 2018 Purpose: we evaluated the evolution of contrast sensitivity reduction in patients affected by ocular hypertension and glaucoma, with low to moderate myopia.
Arrico, L +4 more
core +1 more source
Clustering Algorithm Reveals Dopamine‐Motor Mismatch in Cognitively Preserved Parkinson's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore the relationship between dopaminergic denervation and motor impairment in two de novo Parkinson's disease (PD) cohorts. Methods n = 249 PD patients from Parkinson's Progression Markers Initiative (PPMI) and n = 84 from an external clinical cohort.
Rachele Malito +14 more
wiley +1 more source