PuSH - Publication Server of Helmholtz Zentrum München

13 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.
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)
4.
Chen, Y.-C.* et al.: Transcriptional regulator PRDM12 is essential for human pain perception. Nat. Genet. 47, 803-808 (2015)
5.
Chen, Y.-C.* et al.: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception. Nat. Genet. 47, 962 (2015)
6.
Kurth, I.* et al.: Whole exome sequencing identifies a novel intronic mutation in NTRK1 due to uniparental disomy. J. Peripher. Nerv. Syst. 20, 176 (2015)
7.
Fischer, D.* et al.: A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1. Brain 137:e286 (2014)
8.
Gess, B.* et al.: HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. Neurology 83, 1726-1732 (2014)
9.
Schabhüttl, M.* et al.: Whole-exome sequencing in patients with inherited neuropathies: Outcome and challenges. J. Neurol. 261, 970-982 (2014)
10.
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)
11.
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)
12.
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)
13.
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)