Tyler Mark Pierson

<i>GRIN2A</i> mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine

Tyler Mark Pierson, Hongjie Yuan, Eric D. Marsh et al. · Annals of Clinical and Translational Neurology · 2014 · 292 citations · Full text

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

William A. Gahl, Thomas C. Markello, Camilo Toro et al. · Genetics in Medicine · 2012 · 287 citations · Full text

Disease Diagnosis, Rare Diseases, Medicine +8

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Tyler Mark Pierson, David R. Adams, Florian Bonn et al. · PLoS Genetics · 2011 · 226 citations · Full text

Neurodegenerative Diseases, Peripheral Neuropathy, Mendelian Disorder +14

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

Hongjie Yuan, Kasper B. Hansen, Jing Zhang et al. · Nature Communications · 2014 · 143 citations · Full text

Grin2a Missense Mutation, Early-onset Epileptic Encephalopathy, Genetic Disorder +12

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Vanessa Schartner, Norma B. Romero, Sandra Donkervoort et al. · Acta Neuropathologica · 2016 · 132 citations · Full text

Congenital Myopathy, Mendelian Disorder, Degenerative Disease +1