PuSH - Publication Server of Helmholtz Zentrum München

13 Records found.
Zum Exportieren der Ergebnisse bitte einloggen.
Lay all publications on this page into basket
Funk, N.* et al.: The Parkinson's disease-linked Leucine-rich repeat kinase 2 (LRRK2) is required for insulin-stimulated translocation of GLUT4. Sci. Rep. 9:4515 (2019)
Hermann, A.* et al.: A case of beta-propeller protein-associated neurodegeneration due to a heterozygous deletion of WDR45. Tremor Other Hyperkinet. Mov. 7:465 (2017)
Platzer, K.* et al.: GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J. Med. Genet. 54, 460-470 (2017)
Catarino, C.B.* et al.: Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA. Mitochondrion 36, 15-20 (2016)
Srivastava, S.* et al.: Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur. J. Hum. Genet. 24, 556-561 (2016)
Vogl, I.* et al.: Diagnostic applications of next generation sequencing: Working towards quality standards. Lab. Med. 36, 227-239 (2012)
Haack, T.B. et al.: Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat. Genet. 42, 1131-1134 (2010)
Haebig, K.* et al.: ARHGEF7 (Beta-PIX) acts as guanine nucleotide exchange factor for leucine-rich repeat kinase 2. PLoS ONE 5:e13762 (2010)
Soehn, A.S.* et al.: Periphilin is a novel interactor of synphilin-1, a protein implicated in Parkinson's disease. Neurogenetics 11, 203-215 (2010)
Biskup, S. et al.: Common variants of LRRK2 are not associated with sporadic parkinson's disease. Ann. Neurol. 58, 905-908 (2005)
Dichgans, M.* et al.: Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 366, 371-377 (2005)
Mueller, J.C. et al.: Linkage disequilibrium patterns and tagSNP transferability among European populations. Am. J. Hum. Genet. 76, 387-398 (2005)
* et al.: Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44, 601-607 (2004)