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Large-scale replication and heterogeneity in Parkinson disease genetic loci

Sharma, M.; Ioannidis, J. P. A.; Aasly, J. O.; Annesi, G.; Brice, A.; Van Broeckhoven, C.; Bertram, L.; Bozi, M.; Crosiers, D.; Clarke, C.; Facheris, M.; Farrer, M.; Garraux, G.; Gispert, S.; Auburger, G.; Vilariño-Güell, C.; Hadjigeorgiou, G. M.; Hicks, A. A.; Hattori, N.; Jeon, B.; Lesage, S.; Lill, C. M.; Lin, J. J.; Lynch, T.; Lichtner, P.; Lang, A. E.; Mok, V.; Jasinska-Myga, B.; Mellick, G. D.; Morrison, K. E.; Opala, G.; Pramstaller, P. P.; Pichler, I.; Park, S. S.; Quattrone, A.; Rogaeva, E.; Ross, O. A.; Stefanis, L.; Stockton, J. D.; Satake, W.; Silburn, P. A.; Theuns, J.; Tan, E. K.; Toda, T.; Tomiyama, H.; Uitti, R. J.; Wirdefeldt, K.; Wszolek, Z.; Xiromerisiou, G.; Yueh, K. C.; Zhao, Y.; Gasser, T.; Maraganore, D.; Krüger, R. (2012)

Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which ...

Mutated α-synuclein gene in two greek kindreds with familial pd: Incomplete penetrance?

Papadimitriou, A.; Veletza, V.; Hadjigeorgiou, G. M.; Patrikiou, A.; Hirano, M.; Anastasopoulos, I. (1999)

The G209A mutation in the α-synuclein gene has been associated with autosomal dominant PD (ADPD) in a family from Contursi, Italy, and three apparently unrelated Greek families. Several groups around the world failed to ...

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 ...

MEIS1 and BTBD9: Genetic association with restless leg syndrome in end stage renal disease

Schormair, B.; Plag, J.; Kaffe, M.; Groß, N.; Czamara, D.; Samtleben, W.; Lichtner, P.; Ströhle, A.; Stefanidis, I.; Vainas, A.; Dardiotis, E.; Sakkas, G. K.; Gieger, C.; Müller-Myhsok, B.; Meitinger, T.; Heemann, U.; Hadjigeorgiou, G. M.; Oexle, K.; Winkelmann, J. (2011)

Background: Restless legs syndrome (RLS) is a sleep related movement disorder that occurs both in an idiopathic form and in symptomatic varieties. RLS is a frequent and distressing comorbidity in end stage renal disease ...

Validation of the Augmentation Severity Rating Scale (ASRS): A multicentric, prospective study with levodopa on restless legs syndrome

García-Borreguero, D.; Kohnen, R.; Högl, B.; Ferini-Strambi, L.; Hadjigeorgiou, G. M.; Hornyak, M.; de Weerd, A. W.; Happe, S.; Stiasny-Kolster, K.; Gschliesser, V.; Egatz, R.; Cabrero, B.; Frauscher, B.; Trenkwalder, C.; Hening, W. A.; Allen, R. P. (2007)

Background: Augmentation is the main complication during long-term dopaminergic treatment of restless legs syndrome (RLS) and reflects an overall increase in RLS severity. Its severity varies considerably from a minor ...

Role of endoscopic third ventriculostomy in treatment of selected patients with normal pressure hydrocephalus

Fountas, K. N.; Kapsalaki, E. Z.; Paterakis, K. N.; Lee, G. P.; Hadjigeorgiou, G. M. (2012)

Objective: The purpose of our study was to evaluate the results of endoscopic third ventriculostomy (ETV) in the management of patients with idiopathic normal pressure hydrocephalus (INPH). Methods: Our prospective study ...

Brain MRI and proton MRS findings in infants and children with respiratory chain defects

Dinopoulos, A.; Cecil, K. M.; Schapiro, M. B.; Papadimitriou, A.; Hadjigeorgiou, G. M.; Wong, B.; DeGrauw, T.; Egelhoff, J. C. (2005)

Objective: The aim of this study is to describe neuroimaging patterns in children with respiratory chain (RC) defects using magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (MRS) and to assess ...

Periodic limb movements in sleep and cardiovascular disease: Time to act

Giannaki, C. D.; Karatzaferi, C.; Hadjigeorgiou, G. M.; George, K. P.; Stefanidis, I.; Sakkas, G. K. (2013)

Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13

Kemlink, D.; Plazzi, G.; Vetrugno, R.; Provini, F.; Polo, O.; Stiasny-Kolster, K.; Oertel, W.; Nevsimalova, S.; Sonka, K.; Högl, B.; Frauscher, B.; Hadjigeorgiou, G. M.; Pramstaller, P. P.; Lichtner, P.; Meitinger, T.; Müller-Myshok, B.; Winkelmann, J.; Montagna, P. (2008)

Five loci for restless legs syndrome (RLS) on chromosomes 12q, 14q, 9p, 2q, and 20p (RLS1-RLS5) have been mapped in RLS families, with a recessive in the first and autosomal-dominant mode of inheritance in the latter cases. ...

The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

Heckman, M. G.; Elbaz, A.; Soto-Ortolaza, A. I.; Serie, D. J.; Aasly, J. O.; Annesi, G.; Auburger, G.; Bacon, J. A.; Boczarska-Jedynak, M.; Bozi, M.; Brighina, L.; Chartier-Harlin, M. C.; Dardiotis, E.; Destée, A.; Ferrarese, C.; Ferraris, A.; Fiske, B.; Gispert, S.; Hadjigeorgiou, G. M.; Hattori, N.; Ioannidis, J. P. A.; Jasinska-Myga, B.; Jeon, B. S.; Kim, Y. J.; Klein, C.; Kruger, R.; Kyratzi, E.; Lin, C. H.; Lohmann, K.; Loriot, M. A.; Lynch, T.; Mellick, G. D.; Mutez, E.; Opala, G.; Park, S. S.; Petrucci, S.; Quattrone, A.; Sharma, M.; Silburn, P. A.; Sohn, Y. H.; Stefanis, L.; Tadic, V.; Tomiyama, H.; Uitti, R. J.; Valente, E. M.; Vassilatis, D. K.; Vilariño-Güell, C.; White, L. R.; Wirdefeldt, K.; Wszolek, Z. K.; Wu, R. M.; Xiromerisiou, G.; Maraganore, D. M.; Farrer, M. J.; Ross, O. A. (2014)

The best validated susceptibility variants for Parkinson's disease are located in the α-synuclein (SNCA) and microtubule-associated protein tau (MAPT) genes. Recently, a protective p.N551K-R1398H-K1423K haplotype in the ...