Lesage, S.(Suzanne Lesage)
mutation family c .1366c carrier .1366c mutation carriers t mutation 1 mrna levels level analysis 1 mutations 1366 t allele patient genomic dna allele genomic italian 1 exon 5–6 early-onset sample parkinson study signal 1 gene disease haplotype analysis ywhaz nonsense-mediated mrna decay haplotype 1 mrna level 1366 t signal klein german transcript effect phenotypic variability exon 7–8 german family control genes assay germany status expression neurogenetic sequencing department early-onset parkinsonism member 1 c .1366c 1 mutation control microsatellite markers individual italian patients parkinson disease marker c .373t übeck variability st george-hyslop p c .1366c mutation university parkinsonism cycloheximide xmedian neurol table mutation-negative neurology wild-type reference treatment latchman ds reference genes protein effect siebner phenotype kock n rnazol b phenotypic
1 Most Recent Publications
Biological effects of the PINK1 c.1366C>T mutation: Implications in Parkinson disease pathogenesis
Grünewald, A. Breedveld, G.J. Lesage, S. Durr, A. Binkofski, F. Siebner, H. Münchau, A. Brice, A. Oostra, B.A. Klein, C. Bonifati, V. Lohmann-Hedrich, K. Rohe, C.F. König, I.R. Hagenah, J. Vanacore, N. Meco, G. Antonini, A. Goldwurm, S.