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Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification Djarmati, Ana; Guzvic, Miodrag; Gruenewald, Anne; Lang, Anthony E.; Pramstaller, Peter P.; Simon, David K.; Kaindl, Angela M.; Vieregge, Peter; Nygren, Anders O. H.; Beetz, Christian; Hedrich, Katja; Klein, Christine 分享 收藏
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Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age -: The GenePD study Wilk, J. B.; Tobin, J. E.; Suchowersky, O.; Shill, H. A.; Klein, C.; Wooten, G. F.; Lew, M. F.; Mark, M. H.; Guttman, M.; Watts, R. L.; Singer, C.; Growdon, J. H.; Latourelle, J. C.; Saint-Hilaire, M. H.; DeStefano, A. L.; Prakash, R.; Williamson, S.; Berg, C. J.; Sun, M.; Goldwurm, S.; Pezzoli, G.; Racette, B. A.; Perlmutter, J. S.; Parsian, A.; Baker, K. B.; Giroux, M. L.; Litvan, I.; Pramstaller, P. P.; Nicholson, G.; Burn, D. J.; Chinnery, P. F.; Vieregge, P.; Slevin, J. T.; Cambi, F.; MacDonald, M. E.; Gusella, J. F.; Myers, R. H.; Golbe, L. I. 分享 收藏
Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease 早发性帕金森病的复发性LRRK2 (Park8) 突变 Hedrich, Katja; Winkler, Susen; Hagenah, Johann; Kabakci, Kemal; Kasten, Meike; Schwinger, Eberhard; Volkmann, Jens; Pramstaller, Peter P.; Kostic, Vladimir; Vieregge, Peter; Klein, Christine 分享 收藏
BDNF genetic variants are associated with onset age of familial Parkinson disease:: GenePD study Karamohamed, S; Latourelle, JC; Racette, BA; Perlmutter, JS; Wooten, GF; Lew, M; Klein, C; Shill, H; Golbe, LI; Mark, MH; Guttman, M; Nicholson, G; Wilk, JB; Saint-Hilaire, M; DeStefano, L; Prakash, R; Tobin, S; Williamson, J; Suchowersky, O; Labell, N; Growdon, BNJ; Singer, C; Watts, R; Goldwurm, S; Pezzoli, G; Baker, KB; Giroux, ML; Pramstaller, PP; Burn, DJ; Chinnery, P; Sherman, S; Vieregge, P; Litvan, I; Gusella, JF; Myers, RH; Parsian, A 分享 收藏
Absence of previously reported variants in the SCNA (G88C and G209A), NR4A2 (T291D and T245G) and the DJ-1 (T497C) genes in familial Parkinson's disease from the GenePD study Karamohamed, S; Golbe, LI; Mark, MH; Lazzarini, AM; Suchowersky, O; Labelle, N; Guttman, M; Currie, LJ; Wooten, GF; Stacy, M; Saint-Hilaire, M; Feldman, RG; Liu, J; Shoemaker, CM; Wilk, JB; DeStefano, AL; Latourelle, JC; Xu, G; Watts, R; Growdon, J; Lew, M; Waters, C; Vieregge, P; Pramstaller, PP; Klein, C; Racette, BA; Perlmutter, JS; Parsian, A; Singer, C; Montgomery, E; Baker, K; Gusella, JF; Herbert, A; Myers, RH 分享 收藏
Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? Hedrich, K; Pramstaller, PP; Stübke, K; Hiller, A; Kabakci, K; Purmann, S; Kasten, M; Scaglione, C; Schwinger, E; Volkmann, J; Kostic, V; Vieregge, P; Martinelli, P; Abbruzzese, G; Klein, C; Zühlke, C 分享 收藏
High mutation rate in dopa-responsive dystonia:: Detection with comprehensive GCHI screening Hagenah, J; Saunders-Pullman, RS; Hedrich, K; Kabakci, K; Habermann, K; Wiegers, K; Mohrmann, K; Lohnau, T; Raymond, D; Vieregge, P; Nygaard, T; Ozelius, LJ; Bressman, SB; Klein, C 分享 收藏
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Mutations in LRRK2 cause autosomal-dominant Parkinsonism with pleomorphic pathology Zimprich, A; Biskup, S; Leitner, P; Lichtner, P; Farrer, M; Lincoln, S; Kachergus, J; Hulihan, M; Uitti, RJ; Calne, DB; Stoessl, AJ; Pfeiffer, RF; Patenge, N; Carbajal, IC; Vieregge, P; Asmus, F; Müller-Myhsok, B; Dickson, DW; Meitinger, T; Strom, TM; Wszolek, ZK; Gasser, T 分享 收藏
Case-control study of multiple system atrophy Vanacore, N; Bonifati, V; Fabbrini, G; Colosimo, C; de Michele, G; Marconi, R; Stocchi, F; Nicholl, D; Bonuccelli, U; de Mari, M; Vieregge, P; Meco, G 分享 收藏
Distribution, type, and origin of Parkin mutations:: Review and case studies Hedrich, K; Eskelson, C; Wilmot, B; Marder, K; Harris, J; Garrels, J; Meija-Santana, H; Vieregge, P; Jacobs, H; Bressman, SB; Lang, AE; Kann, M; Abbruzzese, G; Martinelli, P; Schwinger, E; Ozelius, LJ; Pramstaller, PP; Klein, C; Kramer, P 分享 收藏
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease Hedrich, K; Djarmati, A; Schäfer, N; Hering, R; Wellenbrock, C; Weiss, PH; Hilker, R; Vieregge, P; Ozelius, LJ; Heutink, P; Bonifati, V; Schwinger, E; Lang, AE; Noth, J; Bressman, SB; Pramstaller, PP; Riess, O; Klein, C 分享 收藏
Mutations in DYT1 -: Extension of the phenotypic and mutational spectrum Kabakci, K; Hedrich, K; Leung, JC; Mitterer, M; Vieregge, P; Lencer, R; Hagenah, J; Garrels, J; Witt, K; Klostermann, F; Svetel, M; Friedman, J; Kostic, V; Bressman, SB; Breakefield, XO; Ozelius, LJ; Pramstaller, PP; Klein, C 分享 收藏
The R98Q variation in DJ-1 represents a rare polymorphism Hedrich, K; Schäfer, N; Hering, R; Hagenah, J; Lanthaler, AJ; Schwinger, E; Kramer, PL; Ozelius, LJ; Bressman, SB; Abbruzzese, G; Martinelli, P; Kostic, V; Pramstaller, PP; Vieregge, P; Riess, O; Klein, C 分享 收藏
A haplotype at the PARK3 locus influences onset age for Parkinson's disease -: The GenePD study Karamohamed, S; DeStefano, AL; Wilk, JB; Shoemaker, CM; Golbe, LI; Mark, MH; Lazzarini, AM; Suchowersky, O; Labelle, N; Guttman, M; Currie, LJ; Wooten, GF; Stacy, M; Saint-Hilaire, M; Feldman, RG; Sullivan, KM; Xu, G; Watts, R; Growdon, J; Lew, M; Waters, C; Vieregge, P; Pramstaller, PP; Klein, C; Racette, BA; Perlmutter, JS; Parsian, A; Singer, C; Montgomery, E; Baker, K; Gusella, JF; Fink, SJ; Myers, RH; Herbert, A 分享 收藏
Differentiation of parkinsonian syndromes according to differences in executive functions Lange, KW; Tucha, O; Alders, GL; Preier, M; Csoti, I; Merz, B; Mark, G; Herting, B; Fornadi, F; Reichmann, H; Vieregge, P; Reiners, K; Becker, G; Naumann, M 分享 收藏
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