PuSH - Publication Server of Helmholtz Zentrum München

9 Records found.
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1.
Auer-Grumbach, M.* et al.: Rare variants in MME, encoding metalloprotease neprilysin, are linked to late-onset autosomal-dominant axonal polyneuropathies. Am. J. Hum. Genet. 99, 607-623 (2016)
2.
Auer-Grumbach, M.* et al.: Rare coding variants in the MME gene, encoding the metalloprotease neprilysin, are linked to late-onset axonal neuropathies. J. Peripher. Nerv. Syst. 21, 235-235 (2016)
3.
Chen, Y.-C.* et al.: Transcriptional regulator PRDM12 is essential for human pain perception. Nat. Genet. 47, 803-808 (2015)
4.
Chen, Y.-C.* et al.: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception. Nat. Genet. 47, 962 (2015)
5.
Schabhüttl, M.* et al.: Whole-exome sequencing in patients with inherited neuropathies: Outcome and challenges. J. Neurol. 261, 970-982 (2014)
6.
Oates, E.C.* et al.: Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am. J. Hum. Genet. 92, 965-973 (2013)
7.
Beetz, C.* et al.: Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am. J. Hum. Genet. 91, 139-145 (2012)
8.
Clarke, R.* et al.: Homocysteine and coronary heart disease: Meta-analysis of MTHFR case-control studies, avoiding publication bias. PLoS Med. 9:e1001177 (2012)
9.
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)