Mutations of COX20 affect the assembly and function of complex IV causing early onset ataxia, dystonia and neuropathy
Objective: To find the causes of an early onset complex movement disorder in two sisters from a non-consanguineous family, and confirm the COX20 variants responsible for such mitochondrial…Novel Recessive Mitochondrial Mutations Causing Leigh’s Syndrome and Movement Disorders
Objective: Describe discovery of novel mitochondrial mutations causing ataxia and dystonia syndromes with occurrence in childhood. Background: An African-American man at 5 years old subacutely…Genetic, biochemical and clinical findingss in Friedreich’s ataxia patients – relationship with the disease severity
Objective: To investigate the correlation of disease severity in terms of clinical, genetic and molecular parameters in FRDA. Background: : Friedreich ataxia (FRDA) is a…A novel POLG2 variant leads to disrupted mitochondrial integrity in a family with cerebellar ataxia and progressive ophthalmoplegia
Objective: To investigate the molecular consequences of a variant of unknown significance (VUS) in POLG2. Background: Mitochondrial DNA (mtDNA) is replicated by DNA polymerase gamma,…Perillyl alcohol restores mitochondrial dysfunction and abridge NLRP3 inflammasomes activation in in-vitro and in-vivo model of Parkinson’s disease
Objective: Parkinson's disease (PD) affects around 2-3% population of age greater than 65 and is the second most common neurogenerative disorder. The molecular mechanism underpinning…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:…
- « Previous Page
- 1
- …
- 6
- 7
- 8
- 9
- 10
- …
- 12
- Next Page »