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Subdomains

Below are the current subdomains for this domain.

Subdomains

Ataxia, chorea and other hyperkinetic movement disorders

Dementia and Motor Neuron Disease (MND)

Developing a streamlined system to interpret and report genome sequencing results in the diagnostic laboratory

Genome sequencing in very rare inherited neurological disorders: Identifying overlapping common pathological pathways

Mitochondrial Disorders

References

1) Gorman, G. S. Et al. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol 77, 753-9(2015). (mtD)

2) Stewart, J. B. & Chinnery, P. F. The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease. Nature Reviews Genetics (2015). (mtD)

3) Taylor, R. W. Et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA 312, 68-77 (2014). (mtD)

4) Cookson MR, Bandmann O. Parkinson’s disease: insights from pathways. Hum Mol Genet. 2010 May;19(1):21–7. (MD)

5) Bagnall R D et al. Exome-based analysis of cardiac arrhythmia, respiratory control and epilepsy genes in sudden unexpected death in epilepsy. Ann Neurol. 2015 Dec 24. doi: 10.1002/ana.24596. (PNC)

6) Leu C et al. Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy. EBioMedicine. 2015 Jul10;2(9):1063-70. (PNC)

Research plan

Full details of the research proposed by this domain

Neurology detailed research plan
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