Joanne Norton

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Mike Hutton, Corinne Lendon, Patrizia Rizzu et al. · Nature · 1998 · 3.5K citations

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +8

Clinicopathologic Studies in Cognitively Healthy Aging and Alzheimer Disease

Leonard Berg, Daniel W. McKeel, J. Philip Miller et al. · Archives of Neurology · 1998 · 650 citations

<i>TDP‐43</i> A315T mutation in familial motor neuron disease

Michael A. Gitcho, Robert H. Baloh, Sumi Chakraverty et al. · Annals of Neurology · 2008 · 608 citations · Full text

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease

Carlos Cruchaga, Celeste M. Karch, Sheng Chih Jin et al. · Nature · 2013 · 472 citations · Full text

Neurodegenerative Diseases, Alzheimer's Disease, Molecular Neuroscience +8

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

Robert Clark, M. Hutton, M. Fuldner et al. · Nature Genetics · 1995 · 470 citations

Allelic Variant, Genetic Disorder, Genetics +7