Another mitochondrial disease mimic: Two Case reports of adult riboflavin transporter deficiency (RTD) type 2 with muscle adenosine monophosphate (AMP) deaminase deficiency
Objective: To present two rare cases of RTD type 2 with co-existing AMP deaminase deficiency. Background: RTD, formerly known as Brown-Vialetto-Van Laere syndrome, is a…Arm levitation as an early manifestation in MELAS syndrome: A case report
Objective: Arm levitation in MELAS syndrome Background: MELAS syndrome has broad manifestations including stroke-like episodes, dementia, epilepsy, lactic academia, myopathy, recurrent headaches, hearing impairment, diabetes and short…A coding VPS13C haplotype is associated with reduced risk for Parkinson disease
Objective: To study the role of coding VPS13C variants in a large cohort of late-onset PD (LOPD) patients. Background: VPS13C is within a risk locus…Detecting unsuspected mitochondrial disease: an algorithmic approach
Objective: To present an algorithmic approach to the diagnosis of mitochondrial disease for clinical neurologists Background: Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS Syndrome)…Peripheral Blood Mononuclear Cells (PBMCs) are Useful Biomarkers of Mitochondrial Dysfunction in Parkinson Disease Patients with Pathogenic Parkin and LRRK2 Mutations
Objective: To investigate the use of PBMCs as a biomarker of mitochondrial dysfunction in Parkinson disease (PD) patients carrying pathogenic parkin or LRRK2 mutations. Background:…The role of mitochondria in modifying penetrance of Parkin gene variants
Objective: To understand whether mitochondrial DNA (mtDNA) mutation load can modify the penetrance of variants in the Parkinson’s disease (PD) causing gene PRKN (Parkin), in…The role of Parkinson’s disease-associated RHOT1/Miro1 variants in mitochondrial dysfunction and impaired cellular quality control
Objective: In the present study we intent to investigate the effect of mutant Miro1 proteins on mitochondrial function and cellular quality control mechanisms in iPSC-derived…CHCHD2 maintains the MICOS and inhibits PINK1/Parkin mediated mitophagy in an experimental model of Parkinson’s disease
Objective: To illustrate the mechanism of CHCHD2 in regulating MICOS and mitophagy in Parkinson's disease.To illustrate the mechanism of CHCHD2 in regulating MICOS and mitophagy…Blood brain barrier dysfunction cause idiopathic adult onset ventriculomegaly?
Objective: Our hypothesis is BBB disruption causes idiopathic adult onset ventriculomegaly (IAOV) also, astrocyte specific mitochondrial dysfunction is associated with BBB damage. Background: The cause…Combination Therapy of Ellagic Acid and Mucuna Pruriens Seeds Extract Improves Rotenone Induced Behavioural, Oxidative and Mitochondrial Deficits in Mice Model of Parkinson’s Disease
Objective: The present study was designed in order to explore the possible synergistic effect of two highly naturally occurring bio-active compounds viz. Ellagic acid (EA)…
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