Concepedia

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Payam Mohassel, Sandra Donkervoort, Museer A. Lone, Matthew Nalls, Kenneth Gable, Sita D. Gupta, A. Reghan Foley, Ying Hu, Jonas Alex Morales Saute, Ana Lucila Moreira,

Nature Medicine · 2021 · 152 citations · 44 references

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44

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · Nature · 2020 · 10.1K citations · Full text

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The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2019 · 1.8K citations · Full text

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Oligodendroglia metabolically support axons and contribute to neurodegeneration

Youngjin Lee, Brett M. Morrison, Yun Li et al. · Nature · 2012 · 1.6K citations · Full text

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The human splicing code reveals new insights into the genetic determinants of disease

Hui Xiong, Babak Alipanahi, Leo J. Lee et al. · Science · 2014 · 1.3K citations · Full text

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Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Jin‐Kuk Kim, Chunguang Hu, Christelle Moufawad El Achkar et al. · New England Journal of Medicine · 2019 · 805 citations · Full text

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