PuSH - Publication Server of Helmholtz Zentrum München

15 Records found.
Zum Exportieren der Ergebnisse bitte einloggen.
Lay all publications on this page into basket
1.
Dusl, M.* et al.: Congenital myasthenic syndrome caused by novel COL13A1 mutations. J. Neurol. 266, 1107-1112 (2019)
2.
Alhaddad, B.* et al.: PRUNE1 deficiency: Expanding the clinical and genetic spectrum. Neuropediatrics 49, 330-338 (2018)
3.
Baumann, M.* et al.: MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. Clin. Genet. 95, 182-186 (2018)
4.
Shashi, V.* et al.: Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J., accepted (2018)
5.
Vill, K.* et al.: SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy. Hum. Genet. 137, 911-919 (2018)
6.
Braunisch, M.C.* et al.: Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. Clin. Genet. 93, 255-265 (2017)
7.
Wiessner, M.* et al.: Mutations in INPP5K, encoding a phosphoinositide 5-phosphatase, cause congenital muscular dystrophy with cataracts and mild cognitive impairment. Am. J. Hum. Genet. 100, 523-536 (2017)
8.
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)
9.
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)
10.
Haack, T.B. et al.: Absence of the autophagy adaptor SQSTM1/p62 causes childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy. Am. J. Hum. Genet. 99, 735-743 (2016)
11.
Chen, Y.-C.* et al.: Transcriptional regulator PRDM12 is essential for human pain perception. Nat. Genet. 47, 803-808 (2015)
12.
Chen, Y.-C.* et al.: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception. Nat. Genet. 47, 962 (2015)
13.
Gess, B.* et al.: HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. Neurology 83, 1726-1732 (2014)
14.
Schabhüttl, M.* et al.: Whole-exome sequencing in patients with inherited neuropathies: Outcome and challenges. J. Neurol. 261, 970-982 (2014)
15.
Senderek, J.* et al.: Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am. J. Hum. Genet. 88, 162-172 (2011)