Coulthard, Alan

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., et al. (2001) · Nature Genetics

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 537

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

Garcia, C. C., Blair, H. J., Seager, M., Coulthard, A., Tennant, S., Buddles, M., Curtis, A., & Goodship, J. A. (2004) · Journal of Medical Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 205

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation

Chinnery, P. F., Crompton, D. E., Birchall, D., Jackson, M. J., Coulthard, A., Lombes, A., Quinn, N., Wills, A., Fletcher, N., Mottershead, J. P., et al. (2006) · Brain

Neurological diseases and metabolismParkinson's Disease Mechanisms and Treatments

Cited by 205

Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL

Coulthard, A., Blank, S. C., Bushby, K., Kalaria, R. N., & Burn, D. J. (2000) · The British Journal of Radiology

Cerebrovascular and genetic disordersIntracerebral and Subarachnoid Hemorrhage Research

Cited by 62

Neuroferritinopathy: a new inborn error of iron metabolism

Keogh, M. J., Jonas, P., Coulthard, A., Chinnery, P. F., & Burn, J. (2012) · Neurogenetics

Neurological diseases and metabolismIron Metabolism and Disorders

Cited by 49