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Current study results from the report, 'Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases,' have been published. According to a study from London, the United [...]

'Cockayne syndrome (CS) is a complex, progressive disease that involves neurological and developmental impairment and premature aging. The majority of CS patients have mutations in the CSB gene,' scientists in [...]

'Mutations in PINK1 cause autosomal recessive Parkinson's disease. PINK1 is a mitochondrial kinase of unknown function,' scientists writing in the journal Molecular Cell report (see also Parkinson Disease). 'We investigated [...]

According to a study from Antwerp, Belgium, 'Specific mitochondrial DNA (mtDNA) mutations in 12SrRNA and tRNASer(UCN) cause non-syndromic hearing loss (NSHL). In this study, we screened 466 hearing loss (HQ [...]

Data detailed in 'Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation' have been presented (see also Leigh Disease). 'Mutations at mitochondrial DNA (mtDNA) nucleotide 8993 can cause [...]

Researchers detail in 'Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan,' new data in cerebellar ataxia. According to recent research published [...]

Investigators in the United States and France have published new neurology data. Study 1: Scientists review the role of mitochondria in inherited neurodegenerative diseases in a recent issue of the [...]

Neurology research advances have been reported from the United States and France. Study 1: Scientists review the role of mitochondria in inherited neurodegenerative diseases in a recent issue of the [...]

Data on diabetes genomics and genetics are outlined in reports from Croatia, Belgium and Norway. Study 1: A mitochondrial DNA point mutation A3243G in Croatian patients having type 2 diabetes [...]