E. R. Brunt

Mutations in Kir2.1 Cause the Developmental and Episodic Electrical Phenotypes of Andersen's Syndrome

Nikki Plaster, Rabi Tawil, Martin Tristani‐Firouzi et al. · Cell · 2001 · 991 citations · Full text

Episodic Electrical Phenotypes, Developmental Biology, Genetic Disorder +7

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

D.L. Browne, Stephen T. Gancher, John G. Nutt et al. · Nature Genetics · 1994 · 775 citations

Channelopathies, Molecular Neuroscience, Episodic Ataxia/myokymia Syndrome +9

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

Hsien-Yang Lee, Yong Huang, Nadine Bruneau et al. · Cell Reports · 2012 · 262 citations · Full text

Spinocerebellar ataxias in the Netherlands

Bart P.C. van de Warrenburg, Richard J. Sinke, Corien C. Verschuuren‐Bemelmans et al. · Neurology · 2002 · 254 citations

Polarised Asymmetric Inheritance of Accumulated Protein Damage in Higher Eukaryotes

Maria A. Rujano, Floris Bosveld, Florian A. Salomons et al. · PLoS Biology · 2006 · 244 citations · Full text

Cellular Stress, Genetics, Proteasome +23