Ian J. Butler

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

Laura E. Warner, Pedro Mancías, Ian J. Butler et al. · Nature Genetics · 1998 · 493 citations

Life Sciences, Genetics, Molecular Genetics +13

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

Ken Inoue, Mehrdad Khajavi, Tomoko Ohyama et al. · Nature Genetics · 2004 · 421 citations

Life Sciences, Genetics, Molecular Genetics +16

Phenylketonuria Due to a Deficiency of Dihydropteridine Reductase

Seymour Kaufman, Neil A. Holtzman, Sheldon Milstien et al. · New England Journal of Medicine · 1975 · 314 citations

Life Sciences, Biochemistry, Endocrinology +15

Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation

Cornelius F. Boerkoel, Hiroshi Takashima, Carlos García et al. · Annals of Neurology · 2001 · 279 citations

Medicine, Genetics, Neurology +17

Biogenic amine metabolism in tourette syndrome

Ian J. Butler, Stephen H. Koslow, William E. Seifert et al. · Annals of Neurology · 1979 · 186 citations

Medicine, Neuroscience, Psychiatry +11