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Eisenberg, T.* et al.: Cardioprotection and lifespan extension by the natural polyamine spermidine. Nat. Med. 22, 1428-1438 (2016)
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)
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)
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)
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)