PuSH - Publication Server of Helmholtz Zentrum München

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1.
Synofzik, M.* et al.: SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: A large scale multi-centre study. Brain 139, 1378-1393 (2016)
2.
Chen, Y.-C.* et al.: Transcriptional regulator PRDM12 is essential for human pain perception. Nat. Genet. 47, 803-808 (2015)
3.
Chen, Y.-C.* et al.: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception. Nat. Genet. 47, 962 (2015)
4.
Schabhüttl, M.* et al.: Whole-exome sequencing in patients with inherited neuropathies: Outcome and challenges. J. Neurol. 261, 970-982 (2014)
5.
Guelly, C.* et al.: Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am. J. Hum. Genet. 88, 99-105 (2011)