Concepedia

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

Naiara Akizu, Vincent Cantagrel, Maha S. Zaki, Lihadh Al‐Gazali, Xin Wang, Rasim Özgür Rosti, Esra Dikoglu, A. Gélot, Başak Rosti, Keith K. Vaux,

Nature Genetics · 2015 · 136 citations · 34 references

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34

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Mark A. DePristo, Eric Banks, Ryan Poplin et al. · Nature Genetics · 2011 · 12.4K citations · Full text

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Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice

Taichi Hara, Kenji Nakamura, Makoto Matsui et al. · Nature · 2006 · 3.8K citations

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Loss of autophagy in the central nervous system causes neurodegeneration in mice

Masaaki Komatsu, Satoshi Waguri, Tomoki Chiba et al. · Nature · 2006 · 3.5K citations

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A more efficient method to generate integration-free human iPS cells

Keisuke Okita, Yasuko Matsumura, Yoshiko Sato et al. · Nature Methods · 2011 · 2.1K citations · Full text

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A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

Maria C. Marchetto, Cassiano Carromeu, Allan Acab et al. · Cell · 2010 · 1.3K citations · Full text

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