Alzheimer s & Dementia · 2018 · 77 citations · 21 references
Two of the SORL1 variant might have contributed to the disease, the two APP variants were interpreted as likely benign and the other variants remained of unknown significance. Somatic variants in the autosomal dominant AD genes may not be a common cause of sporadic AD, including early onset cases.
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Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 30.5K citations · Full text
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.1K citations · Full text
Phenotypic Variation, Protein-coding Genetic Variation, Genetics +5
Thomas J. Montine, Creighton H. Phelps, Thomas G. Beach et al. · Acta Neuropathologica · 2011 · 2.8K citations · Full text
A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
Alexander Zimprich, Anna Benet‐Pagès, Walter Struhal et al. · The American Journal of Human Genetics · 2011 · 876 citations · Full text
Late-onset Parkinson Disease, Retromer Complex, Neurodegenerative Diseases +8
Aging and neurodegeneration are associated with increased mutations in single human neurons
Michael A. Lodato, Rachel E. Rodin, Craig L. Bohrson et al. · Science · 2017 · 636 citations · Full text
Increased Mutations, Aging, Genetics +16