William Seltzer

The spectrum of SCN1A-related infantile epileptic encephalopathies

Louise A. Harkin, Jacinta M. McMahon, Xenia Iona et al. · Brain · 2007 · 527 citations · Full text

Scn1a Mutations, Subunit Gene Scn1a, Neurological Disorder +11

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

Gabriel A. Lazarin, Imran S. Haque, Shivani Nazareth et al. · Genetics in Medicine · 2012 · 279 citations · Full text

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes

Peter M. Andersen, Katherine B. Sims, Winnie Xin et al. · Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders · 2003 · 273 citations

Biochemical markers in persons with preclinical familial Alzheimer disease

John M. Ringman, Steven G. Younkin, Domenico Praticò et al. · Neurology · 2008 · 197 citations · Full text

Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese

Katrina Gwinn, Jake Y. Chen, H.-C. Liu et al. · Neurology · 2000 · 196 citations