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Πλοήγηση ανά Συγγραφέα "Puschmann, A."

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    • Alpha-synuclein repeat variants and survival in parkinson's disease 

      Chung, S. J.; Biernacka, J. M.; Armasu, S. M.; Anderson, K.; Frigerio, R.; Aasly, J. O.; Annesi, G.; Bentivoglio, A. R.; Brighina, L.; Chartier-Harlin, M. C.; Goldwurm, S.; Hadjigeorgiou, G.; Jasinska-Myga, B.; Jeon, B. S.; Kim, Y. J.; Krüger, R.; Lesage, S.; Markopoulou, K.; Mellick, G.; Morrison, K. E.; Puschmann, A.; Tan, E. K.; Crosiers, D.; Theuns, J.; Van Broeckhoven, C.; Wirdefeldt, K.; Wszolek, Z. K.; Elbaz, A.; Maraganore, D. M.; Yahalom, G.; Orlev, Y.; Cohen, O. S.; Kozlova, E.; Friedman, E.; Inzelberg, R.; Hassin-Baer, S. (2014)
      Objectives: To determine whether α-synuclein dinucleotide repeat (REP1) genotypes are associated with survival in Parkinson's disease (PD). Methods: Investigators from the Genetic Epidemiology of Parkinson's Disease ...

    • Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study 

      Ross, O. A.; Soto-Ortolaza, A. I.; Heckman, M. G.; Aasly, J. O.; Abahuni, N.; Annesi, G.; Bacon, J. A.; Bardien, S.; Bozi, M.; Brice, A.; Brighina, L.; Van Broeckhoven, C.; Carr, J.; Chartier-Harlin, M. C.; Dardiotis, E.; Dickson, D. W.; Diehl, N. N.; Elbaz, A.; Ferrarese, C.; Ferraris, A.; Fiske, B.; Gibson, J. M.; Gibson, R.; Hadjigeorgiou, G. M.; Hattori, N.; Ioannidis, J. P. A.; Jasinska-Myga, B.; Jeon, B. S.; Kim, Y. J.; Klein, C.; Kruger, R.; Kyratzi, E.; Lesage, S.; Lin, C. H.; Lynch, T.; Maraganore, D. M.; Mellick, G. D.; Mutez, E.; Nilsson, C.; Opala, G.; Park, S. S.; Puschmann, A.; Quattrone, A.; Sharma, M.; Silburn, P. A.; Sohn, Y. H.; Stefanis, L.; Tadic, V.; Theuns, J.; Tomiyama, H.; Uitti, R. J.; Valente, E. M.; van de Loo, S.; Vassilatis, D. K.; Vilarino-Guell, C.; White, L. R.; Wirdefeldt, K.; Wszolek, Z. K.; Wu, R. M.; Farrer, M. J.; Genetic Epidemiology Parkinson's, D. (2011)
      Background The leucine-rich repeat kinase 2 gene (LRRK2) harbours highly penetrant mutations that are linked to familial parkinsonism. However, the extent of its polymorphic variability in relation to risk of Parkinson's ...

    • Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: AN international consensus statement 

      Puschmann, A.; Brighina, L.; Markopoulou, K.; Aasly, J.; Chung, S. J.; Frigerio, R.; Hadjigeorgiou, G.; Kõks, S.; Krüger, R.; Siuda, J.; Wider, C.; Zesiewicz, T. A.; Maraganore, D. M. (2015)
      Parkinson disease (PD) is associated with a clinical course of variable duration, severity, and a combination of motor and non-motor features. Recent PD research has focused primarily on etiology rather than clinical ...

    • Independent and joint effects of the MAPT and SNCA genes in Parkinson disease 

      Elbaz, A.; Ross, O. A.; Ioannidis, J. P. A.; Soto-Ortolaza, A. I.; Moisan, F.; Aasly, J.; Annesi, G.; Bozi, M.; Brighina, L.; Chartier-Harlin, M. C.; Destée, A.; Ferrarese, C.; Ferraris, A.; Gibson, J. M.; Gispert, S.; Hadjigeorgiou, G. M.; Jasinska-Myga, B.; Klein, C.; Krüger, R.; Lambert, J. C.; Lohmann, K.; Van De Loo, S.; Loriot, M. A.; Lynch, T.; Mellick, G. D.; Mutez, E.; Nilsson, C.; Opala, G.; Puschmann, A.; Quattrone, A.; Sharma, M.; Silburn, P. A.; Stefanis, L.; Uitti, R. J.; Valente, E. M.; Vilariño-Güell, C.; Wirdefeldt, K.; Wszolek, Z. K.; Xiromerisiou, G.; Maraganore, D. M.; Farrer, M. J. (2011)
      Objective: We studied the independent and joint effects of the genes encoding alpha-synuclein (SNCA) and microtubule-associated protein tau (MAPT) in Parkinson disease (PD) as part of a large meta-analysis of individual ...

    • Population-specific Frequencies for LRRK2 Susceptibility Variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium 

      Heckman, M. G.; Soto-Ortolaza, A. I.; Aasly, J. O.; Abahuni, N.; Annesi, G.; Bacon, J. A.; Bardien, S.; Bozi, M.; Brice, A.; Brighina, L.; Carr, J.; Chartier-Harlin, M. C.; Dardiotis, E.; Dickson, D. W.; Diehl, N. N.; Elbaz, A.; Ferrarese, C.; Fiske, B.; Gibson, J. M.; Gibson, R.; Hadjigeorgiou, G. M.; Hattori, N.; Ioannidis, J. P. A.; Boczarska-Jedynak, M.; Jasinska-Myga, B.; Jeon, B. S.; Kim, Y. J.; Klein, C.; Kruger, R.; Kyratzi, E.; Lesage, S.; Lin, C. H.; Lynch, T.; Maraganore, D. M.; Mellick, G. D.; Mutez, E.; Nilsson, C.; Opala, G.; Park, S. S.; Petrucci, S.; Puschmann, A.; Quattrone, A.; Sharma, M.; Silburn, P. A.; Sohn, Y. H.; Stefanis, L.; Tadic, V.; Theuns, J.; Tomiyama, H.; Uitti, R. J.; Valente, E. M.; Van Broeckhoven, C.; van de Loo, S.; Vassilatis, D. K.; Vilarino-Guell, C.; White, L. R.; Wirdefeldt, K.; Wszolek, Z. K.; Wu, R. M.; Hentati, F.; Farrer, M. J.; Ross, O. A.; Genetic Epidemiology, Parkinsons (2013)
      BackgroundVariants within the leucine-rich repeat kinase 2 gene are recognized as the most frequent genetic cause of Parkinson's disease. Leucine-rich repeat kinase 2 variation related to disease susceptibility displays ...

    • A Swedish family with de novo alpha-synuclein A53T mutation: Evidence for early cortical dysfunction 

      Puschmann, A.; Ross, O. A.; Vilarino-Guell, C.; Lincoln, S. J.; Kachergus, J. M.; Cobb, S. A.; Lindquist, S. G.; Nielsen, J. E.; Wszolek, Z. K.; Farrer, M.; Widner, H.; van Westen, D.; Hagerstrom, D.; Markopoulou, K.; Chase, B. A.; Nilsson, K.; Reimer, J.; Nilsson, C. (2009)
      A de novo alpha-symaclein A53T (p.Ala53 Th; c.209G > A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). Two affected individuals had early-onset (before 31 and 40 years), ...