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Publications

A vertebral artery halo sign indicates giant cell arteritis affecting the posterior circulation of the brain

A detailed delineation of the clinical phenotype, natural history and quality of life in patients with North Sea Progressive Myoclonus Epilepsy

Childhood-onset movement disorders: mechanistic and therapeutic insights from Drosophila melanogaster

CoA-dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases

Cortical pencil lining on SWI MRI in NBIA and healthy aging

North Sea Progressive Myoclonus Epilepsy is Exacerbated by Heat, A Phenotype Primarily Associated with Affected Glia

4 '-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN

Modelling in miniature: Using Drosophila melanogaster to study human neurodegeneration

The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study

Extracellular 4 '-phosphopantetheine is a source for intracellular coenzyme A synthesis

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