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.
Kurth, I.* et al.: Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy. Am. J. Med. Genet. B 171, 875-878 (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.
Fischer, D.* et al.: A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. Brain 137:e286 (2014)
6.
Schabhüttl, M.* et al.: Whole-exome sequencing in patients with inherited neuropathies: Outcome and challenges. J. Neurol. 261, 970-982 (2014)
7.
Auer-Grumbach, M.* et al.: Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype. Eur. J. Med. Genet. 56, 266-269 (2013)
8.
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)
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)