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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Disease and ALDH18A1[original query]
Association of variants within APOE, SORL1, RUNX1, BACE1 and ALDH18A1 with dementia in Alzheimer's disease in subjects with Down syndrome.
Neuroscience letters 2011 Jan 487 (2): 144-8.
Patel Ashok, Rees Simon D, Kelly M Ann, Bain Steven C, Barnett Anthony H, Thalitaya Deepak, Prasher Vee
Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.
Frontiers in neurology 2021 6 12 627531.
Chen Yi-Jun, Zhang Zai-Qiang, Wang Meng-Wen, Qiu Yu-Sen, Yuan Ru-Ying, Dong En-Lin, Zhao Zhe, Zhou Hai-Tao, Wang Ning, Chen Wan-Jin, Lin Xia
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
Frontiers in neurology 2023 9 14 1239725.
Amokelani C Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A Wilson, Jana Vandrovcova, Mary M Reilly, Christopher J Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M Heckma
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