PuSH - Publication Server of Helmholtz Zentrum München

14 Records found.
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1.
Forouhideh, Y.* et al.: A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification. Brain 142, e4 (2019)
2.
Brockmann, S.J.* et al.: CHCHD10 mutations p. R15L and p. G66V cause motoneuron disease by haploinsufficiency. Hum. Mol. Genet. 27, 706-715 (2018)
3.
Müller, K.* et al.: Comprehensive analysis of the mutation spectrum in 301 German ALS families. J. Neurol. Neurosurg. Psychiatr. 89, 817-827 (2018)
4.
Nicolas, A.* et al.: Genome-wide analyses identify KIF5A as a novel ALS gene. Neuron 97, 1268-1283.e6 (2018)
5.
Lehmer, C.* et al.: Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD. EMBO Mol. Med. 9, 859-868 (2017)
6.
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)
7.
Brenner, D.* et al.: NEK1 mutations in familial amyotrophic lateral sclerosis. Brain 139:e28 (2016)
8.
Kenna, K.P.* et al.: NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nat. Genet. 48, 1037-1042 (2016)
9.
Marroquin, N.* et al.: Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: No evidence for pathogenicity of the p.P34S variant. Brain 139, E8-U10 (2016)
10.
van Rheenen, W.* et al.: Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. Nat. Genet. 48, 1043-1048 (2016)
11.
Freischmidt, A.* et al.: Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat. Neurosci. 18, 631-636 (2015)
12.
Lewerenz, J.* et al.: Phosphoinositide 3-kinases upregulate system xc - via eukaryotic initiation factor 2α and activating transcription factor 4-A pathway active in glioblastomas and epilepsy. Antioxid. Redox Signal. 20, 2907-2922 (2014)
13.
Müller, K.* et al.: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. Brain 137:e309 (2014)
14.
van Es, M.A.* et al.: Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat. Genet. 41, 1083-1087 (2009)