PuSH - Publication Server of Helmholtz Zentrum München

8 Records found.
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1.
Schulte, E.C. et al.: Rare variants in β-Amyloid Precursor Protein (APP) and Parkinson's disease. Eur. J. Hum. Genet. 23, 1328-1333 (2015)
2.
Götzl, J.K.* et al.: Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis. Acta Neuropathol. 127, 845-860 (2014)
3.
Mackenzie, I.R.* et al.: Dipeptide repeat protein pathology in C9ORF72 mutation cases: Clinico-pathological correlations. Acta Neuropathol. 126, 859-879 (2013)
4.
Mori, K.* et al.: The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 339, 1335-1338 (2013)
5.
Mori, K.* et al.: Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta Neuropathol. 126, 881-893 (2013)
6.
Neumann, M.* et al.: Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies. Acta Neuropathol. 117, 137-149 (2009)
7.
Roeber, S.* et al.: Evidence for a pathogenic role of different mutations at codon 188 of PRNP. PLoS ONE 3:e2147 (2008)
8.
Vollmert, C. et al.: Significant association of a M129V independent polymorphism in the 5'UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study. J. Med. Genet. 43:e53 (2006)