Jeffrey Hamada

Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

Sabrina Dusi, Lorella Valletta, Tobias B. Haack et al. · The American Journal of Human Genetics · 2013 · 204 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Gali Heimer, Juha M. Kerätär, Lisa G. Riley et al. · The American Journal of Human Genetics · 2016 · 104 citations · Full text

Life Sciences, Genetics, Neuroscience +16

4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKAN

Suh Young Jeong, Penelope Hogarth, Andrew T. Placzek et al. · EMBO Molecular Medicine · 2019 · 81 citations · Full text

Life Sciences, Medicinal Chemistry, Neuroscience +8

Acetyl-4′-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiency

Ivano Di Meo, Cristina Colombelli, Balaji Srinivasan et al. · Scientific Reports · 2017 · 30 citations · Full text

Life Sciences, Biochemistry, Neurobiology +16

Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus

Randall L. Woltjer, Lindsay C. Reese, Brian E. Richardson et al. · Molecular Genetics and Metabolism · 2015 · 23 citations

Life Sciences, Neurology, Neuroscience +15