References of "Epplen, Jorg T."
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See detailMutation analysis of the neurofilament M gene in Parkinson's disease.
Krüger, Rejko UL; Fischer, Christian; Schulte, Thorsten et al

in Neuroscience Letters (2003), 351(2), 125-9

Neurofilament M, a major component of Lewy bodies, represents an interesting candidate in the pathogenesis of Parkinson's disease (PD). We performed detailed mutation analyses of the NF-M gene in 322 ... [more ▼]

Neurofilament M, a major component of Lewy bodies, represents an interesting candidate in the pathogenesis of Parkinson's disease (PD). We performed detailed mutation analyses of the NF-M gene in 322 familial and sporadic PD patients. Two polymorphisms (Ala475Thr and Gly697Arg) occurred at similar frequencies in PD patients and controls. A Pro725Gln substitution and a deletion of valine in position 829 were identified in two PD patients. These substitutions affect residues of the NF-M protein that are highly conserved among different species. None of our patients carried the Gly336Ser substitution, which has been described in familial PD. Our results argue against a major role of NF-M in PD. However, rare variants of the NF-M gene may act as susceptibility factors for PD and functional analyses of the identified variations are warranted to decipher possible mechanisms in neurodegeneration. [less ▲]

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See detailGeneralized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene
Dekomien, Gabriele; Runte, Maren UL; Goedde, René et al

in CytoGenetics and Cell Genetics (2000), 90(3-4), 261-267

Detailed reference viewed: 163 (2 UL)
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See detailEvaluation of RDS/Peripherin and ROM1 as candidate genes in generalised progressive retinal atrophy and exclusion of digenic inheritance
Runte, Maren UL; Dekomien, Gabriele; Epplen, Jörg T

in Animal Genetics (2000), 31(3), 223-227

Detailed reference viewed: 101 (1 UL)
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See detailThe IL-10 gene is not involved in the predisposition to inflammatory bowel disease.
Klein, Wolfram; Tromm, Andreas; Griga, Thomas et al

in Electrophoresis (2000), 21(17), 3578-3582

Detailed reference viewed: 102 (1 UL)