Peter Pramstaller is the founding director of the Institute of Genetic Medicine and coordinates and oversees all research activities at the Institute.

Peter's primary research focus is the molecular genetics of movement disorders, with a special focus on common age-related neurodegenerative disorders such as Parkinson's disease (PD). After his return from the National Hospital of Neurology and Neurosurgery, Queen Square (1993-1995) he started a large scale neuroepidemiology project (NEPT) on PD and related disorders in South Tyrol, the northern-most province of Italy. The combination of epidemiology ("information as the mother of intuition") and pedigree-based genetics ("using genetic clues to understand the development of neurodegenerative disease") lead to the discovery of the largest known kindred with Parkin-associated parkinsonism. Strengthened by the success of these familial studies he started in 2002 the "GenNova-Health-Care-Program", an extensive, two-stage survey aimed at characterizing the genetic epidemiology of Mendelian and complex diseases in South Tyrolean population isolates. Since his relocation he also leads the PD clinic at the Central Hospital of Bolzano, is the medical coordinator of the Progressive Supranuclear palsy (PSP) Society-Europe and member of several societies and research associations. In 2003 Peter joined the medical faculty at the University of Luebeck in Germany, where he is currently Professor of Neurology. Beside his research and clinical focus Peter has a strong interest in the development and application of novel leadership models in science and healthcare.   

Publications

 (2011)

Volpato CB, De Grandi A, Gögele M, Taliun D, Fuchsberger C, Facheris MF, Minelli C, Pattaro C, Pramstaller PP, Hicks AA. Linkage and association analysis of hyperthyrotropinaemia in an Alpine population reveal two novel loci on chromosomes 3q28-29 and 6q26-27. J Med Genet. [Epub ahead of print] 2011 Jun 20.  (abstract)

Demirkan A, Amin N, Isaacs A, Jarvelin MR, Whitfield JB, Wichmann HE, Kyvik KO, Rudan I, Gieger C, Hicks AA, Johansson A, Hottenga JJ, Smith JJ, Wild SH, Pedersen NL, Willemsen G, Mangino M, Hayward C, Uitterlinden AG, Hofman A, Witteman J, Montgomery GW, Pietiläinen KH, Rantanen T, Kaprio J, Döring A, Pramstaller PP, Gyllensten U, de Geus EJ, Penninx BW, Wilson JF, Rivadeneria F, Magnusson PK, Boomsma DI, Spector T, Campbell H, Hoehne B, Martin NG, Oostra BA, McCarthy M, Peltonen-Palotie L, Aulchenko Y, Visscher PM, Ripatti S, Janssens AC, van Duijn CM. Genetic architecture of circulating lipid levels. Eur J Hum Genet. 2011 Mar 30. [Epub ahead of print] (abstract)

Speliotes EK, Yerges-Armstrong LM, Wu J, Hernaez R, Kim LJ, Palmer CD, Gudnason V, Eiriksdottir G, Garcia ME, Launer LJ, Nalls MA, Clark JM, Mitchell BD, Shuldiner AR, Butler JL, Tomas M, Hoffmann U, Hwang SJ, Massaro JM, O'Donnell CJ, Sahani DV, Salomaa V, Schadt EE, Schwartz SM, Siscovick DS; NASH CRN; GIANT Consortium; MAGIC Investigators, Voight BF, Carr JJ, Feitosa MF, Harris TB, Fox CS, Smith AV, Kao WH, Hirschhorn JN, Borecki IB; GOLD Consortium. Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. PLoS Genet. 2011;7(3):e1001324.  (abstract)
 
Rakovic A, Grünewald A, Kottwitz J, Brüggemann N, Pramstaller PP, Lohmann K, Klein C. Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts. PLoS One. 2011;6(3):e16746.  (abstract)
 
Fox ER, Young JH, Li Y, Dreisbach AW, Keating BJ, Musani SK, Liu K, Morrison AC, Ganesh S, Kutlar A, Ramachandran VS, Polak JF, Fabsitz RR, Dries DL, Farlow DN, Redline S, Adeyemo A, Hirschorn JN, Sun YV, Wyatt SB, Penman AD, Palmas W, Rotter JI, Townsend RR, Doumatey AP, Tayo BO, Mosley TH Jr, Lyon HN, Kang SJ, Rotimi CN, Cooper RS, Franceschini N, Curb JD, Martin LW, Eaton CB, Kardia SL, Taylor HA, Caulfield MJ, Ehret GB, Johnson T; The International Consortium for Blood Pressure Genome-wide Association Studies (ICBP-GWAS); CARDIoGRAM consortium; CKDGen consortium; KidneyGen consortium; EchoGen consortium; CHARGE-HF consortium, Chakravarti A, Zhu X, Levy D. Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. Hum Mol Genet. 2011;20(11):2273-2284.  (abstract)
 
Böger CA, Chen MH, Tin A, Olden M, Köttgen A, de Boer IH, Fuchsberger C, O'Seaghdha CM, Pattaro C, Teumer A, Liu CT, Glazer NL, Li M, O'Connell JR, Tanaka T, Peralta CA, Kutalik Z, Luan J, Zhao JH, Hwang SJ, Akylbekova E, Kramer H, van der Harst P, Smith AV, Lohman K, de Andrade M, Hayward C, Kollerits B, Tönjes A, Aspelund T, Ingelsson E, Eiriksdottir G, Launer LJ, Harris TB, Shuldiner AR, Mitchell BD, Arking DE, Franceschini N, Boerwinkle E, Egan J, Hernandez D, Reilly M, Townsend RR, Lumley T, Siscovick DS, Psaty BM, Kestenbaum B, Haritunians T, Bergmann S, Vollenweider P, Waeber G, Mooser V, Waterworth D, Johnson AD, Florez JC, Meigs JB, Lu X, Turner ST, Atkinson EJ, Leak TS, Aasarød K, Skorpen F, Syvänen AC, Illig T, Baumert J, Koenig W, Krämer BK, Devuyst O, Mychaleckyj JC, Minelli C, Bakker SJ, Kedenko L, Paulweber B, Coassin S, Endlich K, Kroemer HK, Biffar R, Stracke S, Völzke H, Stumvoll M, Mägi R, Campbell H, Vitart V, Hastie ND, Gudnason V, Kardia SL, Liu Y, Polasek O, Curhan G, Kronenberg F, Prokopenko I, Rudan I, Arnlöv J, Hallan S, Navis G; CKDGen Consortium, Parsa A, Ferrucci L, Coresh J, Shlipak MG, Bull SB, Paterson NJ, Wichmann HE, Wareham NJ, Loos RJ, Rotter JI, Pramstaller PP, Cupples LA, Beckmann JS, Yang Q, Heid IM, Rettig R, Dreisbach AW, Bochud M, Fox CS, Kao WH. CUBN is a gene locus for albuminuria. J Am Soc Nephrol. 2011;22(3):555-70.  (abstract)
 
Dehghan A, Dupuis J, Barbalic M, Bis JC, Eiriksdottir G, Lu C, Pellikka N, Wallaschofski H, Kettunen J, Henneman P, Baumert J, Strachan DP, Fuchsberger C, Vitart V, Wilson JF, Paré G, Naitza S, Rudock ME, Surakka I, de Geus EJ, Alizadeh BZ, Guralnik J, Shuldiner A, Tanaka T, Zee RY, Schnabel RB, Nambi V, Kavousi M, Ripatti S, Nauck M, Smith NL, Smith AV, Sundvall J, Scheet P, Liu Y, Ruokonen A, Rose LM, Larson MG, Hoogeveen RC, Freimer NB, Teumer A, Tracy RP, Launer LJ, Buring JE, Yamamoto JF, Folsom AR, Sijbrands EJ, Pankow J, Elliott P, Keaney JF, Sun W, Sarin AP, Fontes JD, Badola S, Astor BC, Hofman A, Pouta A, Werdan K, Greiser KH, Kuss O, Meyer zu Schwabedissen HE, Thiery J, Jamshidi Y, Nolte IM, Soranzo N, Spector TD, Völzke H, Parker AN, Aspelund T, Bates D, Young L, Tsui K, Siscovick DS, Guo X, Rotter JI, Uda M, Schlessinger D, Rudan I, Hicks AA, Penninx BW, Thorand B, Gieger C, Coresh J, Willemsen G, Harris TB, Uitterlinden AG, Järvelin MR, Rice K, Radke D, Salomaa V, Willems van Dijk K, Boerwinkle E, Vasan RS, Ferrucci L, Gibson QD, Bandinelli S, Snieder H, Boomsma DI, Xiao X, Campbell H, Hayward C, Pramstaller PP, van Duijn CM, Peltonen L, Psaty BM, Gudnason V, Ridker PM, Homuth G, Koenig W, Ballantyne CM, Witteman JC, Benjamin EJ, Perola M, Chasman DI. Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. Circulation. 2011;123(7):731-8.  (abstract)
 
Del Greco M F, Pattaro C, Luchner A, Pichler I, Winkler T, Hicks AA, Fuchsberger C, Franke A, Melville SA, Peters A, Wichmann HE, Schreiber S, Heid IM, Krawczak M, Minelli C, Wiedermann CJ, Pramstaller PP. Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster. Hum Mol Genet. 2011;20(8):1660-71.  (abstract)
 
Pichler I, Minelli C, Sanna S, Tanaka T, Schwienbacher C, Naitza S, Porcu E, Pattaro C, Busonero F, Zanon A, Maschio A, Melville SA, Piras MG, Longo DL, Guralnik J, Hernandez D, Bandinelli S, Aigner E, Murphy AT, Wroblewski V, Marroni F, Theurl I, Gnewuch C, Schadt E, Mitterer M, Schlessinger D, Ferrucci L, Witcher DR, Hicks AA, Weiss G, Uda M, Pramstaller PP. Identification of a common variant in the TFR2 gene implicated in the physiological regulation of serum iron levels. Hum Mol Genet. 2011;20(6):1232-40. (abstract)
 
Oexle K, Ried JS, Hicks AA, Tanaka T, Hayward C, Bruegel M, Gögele M, Lichtner P, Müller-Myhsok B, Döring A, Illig T, Schwienbacher C, Minelli C, Pichler I, Fiedler GM, Thiery J, Rudan I, Wright AF, Campbell H, Ferrucci L, Bandinelli S, Pramstaller PP, Wichmann HE, Gieger C, Winkelmann J, Meitinger T. Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. Hum Mol Genet. 2011;20(5):1042-7. (abstract)

Gögele M, Pattaro C, Fuchsberger C, Minelli C, Pramstaller PP, Wjst M. Heritability analysis of life span in a semi-isolated population followed across four centuries reveals the presence of pleiotropy between life span and reproduction. J Gerontol A Biol Sci Med Sci. 2011;66:26-37. (abstract)

Facheris MF, Hicks AA, Minelli C, Hagenah JM, Kostic V, Campbell S, Hayward C, Volpato CB, Pattaro C, Vitart V, Wright A, Campbell H, Klein C, Pramstaller PP. Variation in the Uric Acid Transporter Gene SLC2A9 and Its Association with AAO of Parkinson's Disease.J Mol Neurosci. 2011;43(3):246-50. (abstract)

(2010)

Sotoodehnia N, Isaacs A, de Bakker PI, Dörr M, Newton-Cheh C, Nolte IM, van der Harst P, Müller M, Eijgelsheim M, Alonso A, Hicks AA, Padmanabhan S, Hayward C, Smith AV, Polasek O, Giovannone S, Fu J, Magnani JW, Marciante KD, Pfeufer A, Gharib SA, Teumer A, Li M, Bis JC, Rivadeneira F, Aspelund T, Köttgen A, Johnson T, Rice K, Sie MP, Wang YA, Klopp N, Fuchsberger C, Wild SH, Mateo Leach I, Estrada K, Völker U, Wright AF, Asselbergs FW, Qu J, Chakravarti A, Sinner MF, Kors JA, Petersmann A, Harris TB, Soliman EZ, Munroe PB, Psaty BM, Oostra BA, Cupples LA, Perz S, de Boer RA, Uitterlinden AG, Völzke H, Spector TD, Liu FY, Boerwinkle E, Dominiczak AF, Rotter JI, van Herpen G, Levy D, Wichmann HE, van Gilst WH, Witteman JC, Kroemer HK, Kao WH, Heckbert SR, Meitinger T, Hofman A, Campbell H, Folsom AR, van Veldhuisen DJ, Schwienbacher C, O'Donnell CJ, Volpato CB, Caulfield MJ, Connell JM, Launer L, Lu X, Franke L, Fehrmann RS, te Meerman G, Groen HJ, Weersma RK, van den Berg LH, Wijmenga C, Ophoff RA, Navis G, Rudan I, Snieder H, Wilson JF, Pramstaller PP, Siscovick DS, Wang TJ, Gudnason V, van Duijn CM, Felix SB, Fishman GI, Jamshidi Y, Stricker BH, Samani NJ, Kääb S, Arking DE. Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet. 2010;42:1068-76.  (abstract)
 
Speliotes EK, Willer CJ, Berndt SI, Monda KL, Thorleifsson G, Jackson AU, Allen HL, Lindgren CM, Luan J, Mägi R, Randall JC, Vedantam S, Winkler TW, Qi L, Workalemahu T, Heid IM, Steinthorsdottir V, Stringham HM, Weedon MN, Wheeler E, Wood AR, Ferreira T, Weyant RJ, Segrè AV, Estrada K, Liang L, Nemesh J, Park JH, Gustafsson S, Kilpeläinen TO, Yang J, Bouatia-Naji N, Esko T, Feitosa MF, Kutalik Z, Mangino M, Raychaudhuri S, Scherag A, Smith AV, Welch R, Zhao JH, Aben KK, Absher DM, Amin N, Dixon AL, Fisher E, Glazer NL, Goddard ME, Heard-Costa NL, Hoesel V, Hottenga JJ, Johansson A, Johnson T, Ketkar S, Lamina C, Li S, Moffatt MF, Myers RH, Narisu N, Perry JR, Peters MJ, Preuss M, Ripatti S, Rivadeneira F, Sandholt C, Scott LJ, Timpson NJ, Tyrer JP, van Wingerden S, Watanabe RM, White CC, Wiklund F, Barlassina C, Chasman DI, Cooper MN, Jansson JO, Lawrence RW, Pellikka N, Prokopenko I, Shi J, Thiering E, Alavere H, Alibrandi MT, Almgren P, Arnold AM, Aspelund T, Atwood LD, Balkau B, Balmforth AJ, Bennett AJ, Ben-Shlomo Y, Bergman RN, Bergmann S, Biebermann H, Blakemore AI, Boes T, Bonnycastle LL, Bornstein SR, Brown MJ, Buchanan TA, Busonero F, Campbell H, Cappuccio FP, Cavalcanti-Proença C, Chen YD, Chen CM, Chines PS, Clarke R, Coin L, Connell J, Day IN, Heijer M, Duan J, Ebrahim S, Elliott P, Elosua R, Eiriksdottir G, Erdos MR, Eriksson JG, Facheris MF, Felix SB, Fischer-Posovszky P, Folsom AR, Friedrich N, Freimer NB, Fu M, Gaget S, Gejman PV, Geus EJ, Gieger C, Gjesing AP, Goel A, Goyette P, Grallert H, Grässler J, Greenawalt DM, Groves CJ, Gudnason V, Guiducci C, Hartikainen AL, Hassanali N, Hall AS, Havulinna AS, Hayward C, Heath AC, Hengstenberg C, Hicks AA, Hinney A, Hofman A, Homuth G, Hui J, Igl W, Iribarren C, Isomaa B, Jacobs KB, Jarick I, Jewell E, John U, Jørgensen T, Jousilahti P, Jula A, Kaakinen M, Kajantie E, Kaplan LM, Kathiresan S, Kettunen J, Kinnunen L, Knowles JW, Kolcic I, König IR, Koskinen S, Kovacs P, Kuusisto J, Kraft P, Kvaløy K, Laitinen J, Lantieri O, Lanzani C, Launer LJ, Lecoeur C, Lehtimäki T, Lettre G, Liu J, Lokki ML, Lorentzon M, Luben RN, Ludwig B; MAGIC, Manunta P, Marek D, Marre M, Martin NG, McArdle WL, McCarthy A, McKnight B, Meitinger T, Melander O, Meyre D, Midthjell K, Montgomery GW, Morken MA, Morris AP, Mulic R, Ngwa JS, Nelis M, Neville MJ, Nyholt DR, O'Donnell CJ, O'Rahilly S, Ong KK, Oostra B, Paré G, Parker AN, Perola M, Pichler I, Pietiläinen KH, Platou CG, Polasek O, Pouta A, Rafelt S, Raitakari O, Rayner NW, Ridderstråle M, Rief W, Ruokonen A, Robertson NR, Rzehak P, Salomaa V, Sanders AR, Sandhu MS, Sanna S, Saramies J, Savolainen MJ, Scherag S, Schipf S, Schreiber S, Schunkert H, Silander K, Sinisalo J, Siscovick DS, Smit JH, Soranzo N, Sovio U, Stephens J, Surakka I, Swift AJ, Tammesoo ML, Tardif JC, Teder-Laving M, Teslovich TM, Thompson JR, Thomson B, Tönjes A, Tuomi T, van Meurs JB, van Ommen GJ, Vatin V, Viikari J, Visvikis-Siest S, Vitart V, Vogel CI, Voight BF, Waite LL, Wallaschofski H, Walters GB, Widen E, Wiegand S, Wild SH, Willemsen G, Witte DR, Witteman JC, Xu J, Zhang Q, Zgaga L, Ziegler A, Zitting P, Beilby JP, Farooqi IS, Hebebrand J, Huikuri HV, James AL, Kähönen M, Levinson DF, Macciardi F, Nieminen MS, Ohlsson C, Palmer LJ, Ridker PM, Stumvoll M, Beckmann JS, Boeing H, Boerwinkle E, Boomsma DI, Caulfield MJ, Chanock SJ, Collins FS, Cupples LA, Smith GD, Erdmann J, Froguel P, Grönberg H, Gyllensten U, Hall P, Hansen T, Harris TB, Hattersley AT, Hayes RB, Heinrich J, Hu FB, Hveem K, Illig T, Jarvelin MR, Kaprio J, Karpe F, Khaw KT, Kiemeney LA, Krude H, Laakso M, Lawlor DA, Metspalu A, Munroe PB, Ouwehand WH, Pedersen O, Penninx BW, Peters A, Pramstaller PP, Quertermous T, Reinehr T, Rissanen A, Rudan I, Samani NJ, Schwarz PE, Shuldiner AR, Spector TD, Tuomilehto J, Uda M, Uitterlinden A, Valle TT, Wabitsch M, Waeber G, Wareham NJ, Watkins H; Procardis Consortium, Wilson JF, Wright AF, Zillikens MC, Chatterjee N, McCarroll SA, Purcell S, Schadt EE, Visscher PM, Assimes TL, Borecki IB, Deloukas P, Fox CS, Groop LC, Haritunians T, Hunter DJ, Kaplan RC, Mohlke KL, O'Connell JR, Peltonen L, Schlessinger D, Strachan DP, van Duijn CM, Wichmann HE, Frayling TM, Thorsteinsdottir U, Abecasis GR, Barroso I, Boehnke M, Stefansson K, North KE, McCarthy MI, Hirschhorn JN, Ingelsson E, Loos RJ. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet. 2010;42:937-48.  (abstract)
 
Heid IM, Jackson AU, Randall JC, Winkler TW, Qi L, Steinthorsdottir V, Thorleifsson G, Zillikens MC, Speliotes EK, Mägi R, Workalemahu T, White CC, Bouatia-Naji N, Harris TB, Berndt SI, Ingelsson E, Willer CJ, Weedon MN, Luan J, Vedantam S, Esko T, Kilpeläinen TO, Kutalik Z, Li S, Monda KL, Dixon AL, Holmes CC, Kaplan LM, Liang L, Min JL, Moffatt MF, Molony C, Nicholson G, Schadt EE, Zondervan KT, Feitosa MF, Ferreira T, Allen HL, Weyant RJ, Wheeler E, Wood AR; MAGIC, Estrada K, Goddard ME, Lettre G, Mangino M, Nyholt DR, Purcell S, Smith AV, Visscher PM, Yang J, McCarroll SA, Nemesh J, Voight BF, Absher D, Amin N, Aspelund T, Coin L, Glazer NL, Hayward C, Heard-Costa NL, Hottenga JJ, Johansson A, Johnson T, Kaakinen M, Kapur K, Ketkar S, Knowles JW, Kraft P, Kraja AT, Lamina C, Leitzmann MF, McKnight B, Morris AP, Ong KK, Perry JR, Peters MJ, Polasek O, Prokopenko I, Rayner NW, Ripatti S, Rivadeneira F, Robertson NR, Sanna S, Sovio U, Surakka I, Teumer A, van Wingerden S, Vitart V, Zhao JH, Cavalcanti-Proença C, Chines PS, Fisher E, Kulzer JR, Lecoeur C, Narisu N, Sandholt C, Scott LJ, Silander K, Stark K, Tammesoo ML, Teslovich TM, Timpson NJ, Watanabe RM, Welch R, Chasman DI, Cooper MN, Jansson JO, Kettunen J, Lawrence RW, Pellikka N, Perola M, Vandenput L, Alavere H, Almgren P, Atwood LD, Bennett AJ, Biffar R, Bonnycastle LL, Bornstein SR, Buchanan TA, Campbell H, Day IN, Dei M, Dörr M, Elliott P, Erdos MR, Eriksson JG, Freimer NB, Fu M, Gaget S, Geus EJ, Gjesing AP, Grallert H, Grässler J, Groves CJ, Guiducci C, Hartikainen AL, Hassanali N, Havulinna AS, Herzig KH, Hicks AA, Hui J, Igl W, Jousilahti P, Jula A, Kajantie E, Kinnunen L, Kolcic I, Koskinen S, Kovacs P, Kroemer HK, Krzelj V, Kuusisto J, Kvaloy K, Laitinen J, Lantieri O, Lathrop GM, Lokki ML, Luben RN, Ludwig B, McArdle WL, McCarthy A, Morken MA, Nelis M, Neville MJ, Paré G, Parker AN, Peden JF, Pichler I, Pietiläinen KH, Platou CG, Pouta A, Ridderstråle M, Samani NJ, Saramies J, Sinisalo J, Smit JH, Strawbridge RJ, Stringham HM, Swift AJ, Teder-Laving M, Thomson B, Usala G, van Meurs JB, van Ommen GJ, Vatin V, Volpato CB, Wallaschofski H, Walters GB, Widen E, Wild SH, Willemsen G, Witte DR, Zgaga L, Zitting P, Beilby JP, James AL, Kähönen M, Lehtimäki T, Nieminen MS, Ohlsson C, Palmer LJ, Raitakari O, Ridker PM, Stumvoll M, Tönjes A, Viikari J, Balkau B, Ben-Shlomo Y, Bergman RN, Boeing H, Smith GD, Ebrahim S, Froguel P, Hansen T, Hengstenberg C, Hveem K, Isomaa B, Jørgensen T, Karpe F, Khaw KT, Laakso M, Lawlor DA, Marre M, Meitinger T, Metspalu A, Midthjell K, Pedersen O, Salomaa V, Schwarz PE, Tuomi T, Tuomilehto J, Valle TT, Wareham NJ, Arnold AM, Beckmann JS, Bergmann S, Boerwinkle E, Boomsma DI, Caulfield MJ, Collins FS, Eiriksdottir G, Gudnason V, Gyllensten U, Hamsten A, Hattersley AT, Hofman A, Hu FB, Illig T, Iribarren C, Jarvelin MR, Kao WH, Kaprio J, Launer LJ, Munroe PB, Oostra B, Penninx BW, Pramstaller PP, Psaty BM, Quertermous T, Rissanen A, Rudan I, Shuldiner AR, Soranzo N, Spector TD, Syvanen AC, Uda M, Uitterlinden A, Völzke H, Vollenweider P, Wilson JF, Witteman JC, Wright AF, Abecasis GR, Boehnke M, Borecki IB, Deloukas P, Frayling TM, Groop LC, Haritunians T, Hunter DJ, Kaplan RC, North KE, O'Connell JR, Peltonen L, Schlessinger D, Strachan DP, Hirschhorn JN, Assimes TL, Wichmann HE, Thorsteinsdottir U, van Duijn CM, Stefansson K, Cupples LA, Loos RJ, Barroso I, McCarthy MI, Fox CS, Mohlke KL, Lindgren CM. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet. 2010;42:949-60.  (abstract)
 
Grünewald A, Voges L, Rakovic A, Kasten M, Vandebona H, Hemmelmann C, Lohmann K, Orolicki S, Ramirez A, Schapira AH, Pramstaller PP, Sue CM, Klein C. Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts. PLoS One. 2010;5:e12962.  (abstract)

Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, Ferreira T, Wood AR, Weyant RJ, Segrè AV, Speliotes EK, Wheeler E, Soranzo N, Park JH, Yang J, Gudbjartsson D, Heard-Costa NL, Randall JC, Qi L, Vernon Smith A, Mägi R, Pastinen T, Liang L, Heid IM, Luan J, Thorleifsson G, Winkler TW, Goddard ME, Sin Lo K, Palmer C, Workalemahu T, Aulchenko YS, Johansson A, Zillikens MC, Feitosa MF, Esko T, Johnson T, Ketkar S, Kraft P, Mangino M, Prokopenko I, Absher D, Albrecht E, Ernst F, Glazer NL, Hayward C, Hottenga JJ, Jacobs KB, Knowles JW, Kutalik Z, Monda KL, Polasek O, Preuss M, Rayner NW, Robertson NR, Steinthorsdottir V, Tyrer JP, Voight BF, Wiklund F, Xu J, Hua Zhao J, Nyholt DR, Pellikka N, Perola M, Perry JR, Surakka I, Tammesoo ML, Altmaier EL, Amin N, Aspelund T, Bhangale T, Boucher G, Chasman DI, Chen C, Coin L, Cooper MN, Dixon AL, Gibson Q, Grundberg E, Hao K, Juhani Junttila M, Kaplan LM, Kettunen J, König IR, Kwan T, Lawrence RW, Levinson DF, Lorentzon M, McKnight B, Morris AP, Müller M, Suh Ngwa J, Purcell S, Rafelt S, Salem RM, Salvi E, Sanna S, Shi J, Sovio U, Thompson JR, Turchin MC, Vandenput L, Verlaan DJ, Vitart V, White CC, Ziegler A, Almgren P, Balmforth AJ, Campbell H, Citterio L, De Grandi A, Dominiczak A, Duan J, Elliott P, Elosua R, Eriksson JG, Freimer NB, Geus EJ, Glorioso N, Haiqing S, Hartikainen AL, Havulinna AS, Hicks AA, Hui J, Igl W, Illig T, Jula A, Kajantie E, Kilpeläinen TO, Koiranen M, Kolcic I, Koskinen S, Kovacs P, Laitinen J, Liu J, Lokki ML, Marusic A, Maschio A, Meitinger T, Mulas A, Paré G, Parker AN, Peden JF, Petersmann A, Pichler I, Pietiläinen KH, Pouta A, Ridderstråle M, Rotter JI, Sambrook JG, Sanders AR, Oliver Schmidt C, Sinisalo J, Smit JH, Stringham HM, Bragi Walters G, Widen E, Wild SH, Willemsen G, Zagato L, Zgaga L, Zitting P, Alavere H, Farrall M, McArdle WL, Nelis M, Peters MJ, Ripatti S, van Meurs JB, Aben KK, Ardlie KG, Beckmann JS, Beilby JP, Bergman RN, Bergmann S, Collins FS, Cusi D, den Heijer M, Eiriksdottir G, Gejman PV, Hall AS, Hamsten A, Huikuri HV, Iribarren C, Kähönen M, Kaprio J, Kathiresan S, Kiemeney L, Kocher T, Launer LJ, Lehtimäki T, Melander O, Mosley TH Jr, Musk AW, Nieminen MS, O'Donnell CJ, Ohlsson C, Oostra B, Palmer LJ, Raitakari O, Ridker PM, Rioux JD, Rissanen A, Rivolta C, Schunkert H, Shuldiner AR, Siscovick DS, Stumvoll M, Tönjes A, Tuomilehto J, van Ommen GJ, Viikari J, Heath AC, Martin NG, Montgomery GW, Province MA, Kayser M, Arnold AM, Atwood LD, Boerwinkle E, Chanock SJ, Deloukas P, Gieger C, Grönberg H, Hall P, Hattersley AT, Hengstenberg C, Hoffman W, Mark Lathrop G, Salomaa V, Schreiber S, Uda M, Waterworth D, Wright AF, Assimes TL, Barroso I, Hofman A, Mohlke KL, Boomsma DI, Caulfield MJ, Adrienne Cupples L, Erdmann J, Fox CS, Gudnason V, Gyllensten U, Harris TB, Hayes RB, Jarvelin MR, Mooser V, Munroe PB, Ouwehand WH, Penninx BW, Pramstaller PP, Quertermous T, Rudan I, Samani NJ, Spector TD, Völzke H, Watkins H, Wilson JF, Groop LC, Haritunians T, Hu FB, Kaplan RC, Metspalu A, North KE, Schlessinger D, Wareham NJ, Hunter DJ, O'Connell JR, Strachan DP, Wichmann HE, Borecki IB, van Duijn CM, Schadt EE, Thorsteinsdottir U, Peltonen L, Uitterlinden AG, Visscher PM, Chatterjee N, Loos RJ, Boehnke M, McCarthy MI, Ingelsson E, Lindgren CM, Abecasis GR, Stefansson K, Frayling TM, Hirschhorn JN. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature. 2010;467(7317):832-8. (abstract)

Kertelge L, Brüggemann N, Schmidt A, Tadic V, Wisse C, Dankert S, Drude L, van der Vegt J, Siebner H, Pawlack H, Pramstaller PP, Behrens MI, Ramirez A, Reichel D, Buhmann C, Hagenah J, Klein C, Lohmann K, Kasten M. Impaired sense of smell and color discrimination in monogenic and idiopathic Parkinson's disease. Mov Disord. 2010;25(15):2665-9. (abstract)

Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts SL, Bis JC, Aulchenko YS, Thorleifsson G, Feitosa MF, Chambers J, Orho-Melander M, Melander O, Johnson T, Li X, Guo X, Li M, Shin Cho Y, Jin Go M, Jin Kim Y, Lee JY, Park T, Kim K, Sim X, Twee-Hee Ong R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF, Witteman JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB, Waterworth DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF, Vitart V, Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka T, Surakka I, Stringham HM, Spector TD, Soranzo N, Smit JH, Sinisalo J, Silander K, Sijbrands EJ, Scuteri A, Scott J, Schlessinger D, Sanna S, Salomaa V, Saharinen J, Sabatti C, Ruokonen A, Rudan I, Rose LM, Roberts R, Rieder M, Psaty BM, Pramstaller PP, Pichler I, Perola M, Penninx BW, Pedersen NL, Pattaro C, Parker AN, Pare G, Oostra BA, O'Donnell CJ, Nieminen MS, Nickerson DA, Montgomery GW, Meitinger T, McPherson R, McCarthy MI, McArdle W, Masson D, Martin NG, Marroni F, Mangino M, Magnusson PK, Lucas G, Luben R, Loos RJ, Lokki ML, Lettre G, Langenberg C, Launer LJ, Lakatta EG, Laaksonen R, Kyvik KO, Kronenberg F, König IR, Khaw KT, Kaprio J, Kaplan LM, Johansson A, Jarvelin MR, Cecile J W Janssens A, Ingelsson E, Igl W, Kees Hovingh G, Hottenga JJ, Hofman A, Hicks AA, Hengstenberg C, Heid IM, Hayward C, Havulinna AS, Hastie ND, Harris TB, Haritunians T, Hall AS, Gyllensten U, Guiducci C, Groop LC, Gonzalez E, Gieger C, Freimer NB, Ferrucci L, Erdmann J, Elliott P, Ejebe KG, Döring A, Dominiczak AF, Demissie S, Deloukas P, de Geus EJ, de Faire U, Crawford G, Collins FS, Chen YD, Caulfield MJ, Campbell H, Burtt NP, Bonnycastle LL, Boomsma DI, Boekholdt SM, Bergman RN, Barroso I, Bandinelli S, Ballantyne CM, Assimes TL, Quertermous T, Altshuler D, Seielstad M, Wong TY, Tai ES, Feranil AB, Kuzawa CW, Adair LS, Taylor HA Jr, Borecki IB, Gabriel SB, Wilson JG, Holm H, Thorsteinsdottir U, Gudnason V, Krauss RM, Mohlke KL, Ordovas JM, Munroe PB, Kooner JS, Tall AR, Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle E, Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ, Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn CM, Peltonen L, Abecasis GR, Boehnke M, Kathiresan S. Biological, clinical and population relevance of 95 loci for blood lipids. Nature. 2010;466(7307):707-13. (abstract)

Eijgelsheim M, Newton-Cheh C, Sotoodehnia N, de Bakker PI, Müller M, Morrison AC, Smith AV, Isaacs A, Sanna S, Dörr M, Navarro P, Fuchsberger C, Nolte IM, de Geus EJ, Estrada K, Hwang SJ, Bis JC, Rückert IM, Alonso A, Launer LJ, Hottenga JJ, Rivadeneira F, Noseworthy PA, Rice KM, Perz S, Arking DE, Spector TD, Kors JA, Aulchenko YS, Tarasov KV, Homuth G, Wild SH, Marroni F, Gieger C, Licht CM, Prineas RJ, Hofman A, Rotter JI, Hicks AA, Ernst F, Najjar SS, Wright AF, Peters A, Fox ER, Oostra BA, Kroemer HK, Couper D, Völzke H, Campbell H, Meitinger T, Uda M, Witteman JC, Psaty BM, Wichmann HE, Harris TB, Kääb S, Siscovick DS, Jamshidi Y, Uitterlinden AG, Folsom AR, Larson MG, Wilson JF, Penninx BW, Snieder H, Pramstaller PP, van Duijn CM, Lakatta EG, Felix SB, Gudnason V, Pfeufer A, Heckbert SR, Stricker BH, Boerwinkle E, O'Donnell CJ. Genome-wide association analysis identifies multiple loci related with resting heart rate. Hum Mol Genet. 2010;19(19):3885-94. (abstract)

Kägi G, Klein C, Wood NW, Schneider SA, Pramstaller PP, Tadic V, Quinn NP, van de Warrenburg BP, Bhatia KP. Nonmotor symptoms in Parkin gene-related parkinsonism. Mov Disord. 2010;25(9):1279-84. (abstract)
 
Machner B, Klein C, Sprenger A, Baumbach P, Pramstaller PP, Helmchen C, Heide W. Eye movement disorders are different in Parkin-linked and idiopathic early-onset PD. Neurology. 2010;75(2):125-8. (abstract)

Schwienbacher C, De Grandi A, Fuchsberger C, Facheris MF, Svaldi M, Wjst M, Pramstaller PP, Hicks AA.  Copy number variation and association over T-cell receptor genes-influence of DNA source. Immunogenetics.2010;62(8):561-7. (abstract)

Voight BF, Scott LJ, Steinthorsdottir V, Morris AP, Dina C, Welch RP, Zeggini E, Huth C, Aulchenko YS, Thorleifsson G, McCulloch LJ, Ferreira T, Grallert H, Amin N, Wu G, Willer CJ, Raychaudhuri S, McCarroll SA, Langenberg C, Hofmann OM, Dupuis J, Qi L, Segrè AV, van Hoek M, Navarro P, Ardlie K, Balkau B, Benediktsson R, Bennett AJ, Blagieva R, Boerwinkle E, Bonnycastle LL, Bengtsson Boström K, Bravenboer B, Bumpstead S, Burtt NP, Charpentier G, Chines PS, Cornelis M, Couper DJ, Crawford G, Doney AS, Elliott KS, Elliott AL, Erdos MR, Fox CS, Franklin CS, Ganser M, Gieger C, Grarup N, Green T, Griffin S, Groves CJ, Guiducci C, Hadjadj S, Hassanali N, Herder C, Isomaa B, Jackson AU, Johnson PR, Jørgensen T, Kao WH, Klopp N, Kong A, Kraft P, Kuusisto J, Lauritzen T, Li M, Lieverse A, Lindgren CM, Lyssenko V, Marre M, Meitinger T, Midthjell K, Morken MA, Narisu N, Nilsson P, Owen KR, Payne F, Perry JR, Petersen AK, Platou C, Proença C, Prokopenko I, Rathmann W, Rayner NW, Robertson NR, Rocheleau G, Roden M, Sampson MJ, Saxena R, Shields BM, Shrader P, Sigurdsson G, Sparsø T, Strassburger K, Stringham HM, Sun Q, Swift AJ, Thorand B, Tichet J, Tuomi T, van Dam RM, van Haeften TW, van Herpt T, van Vliet-Ostaptchouk JV, Bragi Walters G, Weedon MN, Wijmenga C, Witteman J, Bergman RN, Cauchi S, Collins FS, Gloyn AL, Gyllensten U, Hansen T, Hide WA, Hitman GA, Hofman A, Hunter DJ, Hveem K, Laakso M, Mohlke KL, Morris AD, Palmer CN, Pramstaller PP, Rudan I, Sijbrands E, Stein LD, Tuomilehto J, Uitterlinden A, Walker M, Wareham NJ, Watanabe RM, Abecasis GR, Boehm BO, Campbell H, Daly MJ, Hattersley AT, Hu FB, Meigs JB, Pankow JS, Pedersen O, Wichmann HE, Barroso I, Florez JC, Frayling TM, Groop L, Sladek R, Thorsteinsdottir U, Wilson JF, Illig T, Froguel P, van Duijn CM, Stefansson K, Altshuler D, Boehnke M, McCarthy MI; MAGIC investigators; GIANT Consortium. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet. 2010;42:579-89. (abstract)

O'Dushlaine C, McQuillan R, Weale ME, Crouch DJ, Johansson A, Aulchenko Y, Franklin CS, Polašek O, Fuchsberger C, Corvin A, Hicks AA, Vitart V, Hayward C, Wild SH, Meitinger T, van Duijn CM, Gyllensten U, Wright AF, Campbell H, Pramstaller PP, Rudan I, Wilson JF. Genes predict village of origin in rural Europe. Eur J Hum Genet. 2010;18(11):1269-70. (abstract)

Pichler I, Mueller JC, Stefanov SA, De Grandi A, Beu Volpato C, Pinggera GK, Mayr A, Ogriseg M, Ploner F, Meitinger T, Pramstaller PP. Genetic structure in contemporary South Tyrolean isolated populations revealed by analysis of Y-chromosome, mtDNA, and Alu polymorphisms. 2006. Hum Biol. 2009;81(5-6):875-98. (abstract)

Reetz K, Tadic V, Kasten M, Brüggemann N, Schmidt A, Hagenah J, Pramstaller PP, Ramirez A, Behrens MI, Siebner HR, Klein C, Binkofski F. Structural imaging in the presymptomatic stage of genetically determined parkinsonism. Neurobiol Dis. 2010;39(3):402-408. (abstract)

van Eimeren T, Binkofski F, Buhmann C, Hagenah J, Strafella AP, Pramstaller PP, Siebner HR, Klein C. Imaging movement-related activity in medicated Parkin-associated and sporadic Parkinson's disease. Parkinsonism Relat Disord. 2010;16(6):384-7. (abstract)

Mascalzoni D, Janssens C, Stewart A, Pramstaller P, Gyllensten U, Rudan I, van Duijn C, Wilson J, Campbell H, Mc Quillan R on behalf of the EUROSPAN consortium. Comparison of participant information and informed consent forms of five European studies in genetic isolated populations. Eur J Hum Genet. 2010;18:296-3. (abstract)

Köttgen A, Pattaro C, Böger CA, Fuchsberger C, Olden M, Glazer NL, Parsa A, Gao X, Yang Q, Smith AV, O'Connell JR, Li M, Schmidt H, Tanaka T, Isaacs A, Ketkar S, Hwang SJ, Johnson AD, Dehghan A, Teumer A, Paré G, Atkinson EJ, Zeller T, Lohman K, Cornelis MC, Probst-Hensch NM, Kronenberg F, Tönjes A, Hayward C, Aspelund T, Eiriksdottir G, Launer LJ, Harris TB, Rampersaud E, Mitchell BD, Arking DE, Boerwinkle E, Struchalin M, Cavalieri M, Singleton A, Giallauria F, Metter J, de Boer IH, Haritunians T, Lumley T, Siscovick D, Psaty BM, Zillikens MC, Oostra BA, Feitosa M, Province M, de Andrade M, Turner ST, Schillert A, Ziegler A, Wild PS, Schnabel RB, Wilde S, Munzel TF, Leak TS, Illig T, Klopp N, Meisinger C, Wichmann HE, Koenig W, Zgaga L, Zemunik T, Kolcic I, Minelli C, Hu FB, Johansson A, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Schreiber S, Aulchenko YS, Felix JF, Rivadeneira F, Uitterlinden AG, Hofman A, Imboden M, Nitsch D, Brandstätter A, Kollerits B, Kedenko L, Mägi R, Stumvoll M, Kovacs P, Boban M, Campbell S, Endlich K, Völzke H, Kroemer HK, Nauck M, Völker U, Polasek O, Vitart V, Badola S, Parker AN, Ridker PM, Kardia SL, Blankenberg S, Liu Y, Curhan GC, Franke A, Rochat T, Paulweber B, Prokopenko I, Wang W, Gudnason V, Shuldiner AR, Coresh J, Schmidt R, Ferrucci L, Shlipak MG, van Duijn CM, Borecki I, Krämer BK, Rudan I, Gyllensten U, Wilson JF, Witteman JC, Pramstaller PP, Rettig R, Hastie N, Chasman DI, Kao WH, Heid IM, Fox CS. New loci associated with kidney function and chronic kidney disease. Nat Genet. 2010 May;42(5):376-84. (abstract)
 
Neely GG, Kuba K, Cammarato A, Isobe K, Amann S, Zhang L, Murata M, Elmén L, Gupta V, Arora S, Sarangi R, Dan D, Fujisawa S, Usami T, Xia CP, Keene AC, Alayari NN, Yamakawa H, Elling U, Berger C, Novatchkova M, Koglgruber R, Fukuda K, Nishina H, Isobe M, Pospisilik JA, Imai Y, Pfeufer A, Hicks AA, Pramstaller PP, Subramaniam S, Kimura A, Ocorr K, Bodmer R, Penninger JM. A global in vivo Drosophila RNAi screen identifies NOT3 as a conserved regulator of heart function. Cell. 2010 Apr 2;141(1):142-53. (abstract)

Pattaro C, De Grandi A, Vitart V, Hayward C, Franke A, Aulchenko YS, Johansson A, Wild SH, Melville SA, Isaacs A, Polasek O, Ellinghaus D, Kolcic I, Nothlings U, Zgaga L, Zemunik T, Gnewuch C, Schreiber S, Campbell S, Hastie N, Boban M, Meitinger T, Oostra BA, Riegler P, Minelli C, Wright AF, Campbell H, van Duijn CM, Gyllensten U, Wilson JF, Krawczak M, Rudan I, Pramstaller PP, Consortium TE. A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. BMC Med Genet. 2010 Mar 11;11(1):41. (abstract)

Allebrandt KV, Teder-Laving M, Akyol M, Pichler I, Müller-Myhsok B, Pramstaller P, Merrow M, Meitinger T, Metspalu A, Roenneberg T. CLOCK Gene Variants Associate with Sleep Duration in Two Independent Populations. Biol Psychiatry. 2010 Jun 1;67(11):1040-7. (abstract)

Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL, Bouatia-Naji N, Gloyn AL, Lindgren CM, Mägi R, Morris AP, Randall J, Johnson T, Elliott P, Rybin D, Thorleifsson G, Steinthorsdottir V, Henneman P, Grallert H, Dehghan A, Hottenga JJ, Franklin CS, Navarro P, Song K, Goel A, Perry JR, Egan JM, Lajunen T, Grarup N, Sparsø T, Doney A, Voight BF, Stringham HM, Li M, Kanoni S, Shrader P, Cavalcanti-Proença C, Kumari M, Qi L, Timpson NJ, Gieger C, Zabena C, Rocheleau G, Ingelsson E, An P, O'Connell J, Luan J, Elliott A, McCarroll SA, Payne F, Roccasecca RM, Pattou F, Sethupathy P, Ardlie K, Ariyurek Y, Balkau B, Barter P, Beilby JP, Ben-Shlomo Y, Benediktsson R, Bennett AJ, Bergmann S, Bochud M, Boerwinkle E, Bonnefond A, Bonnycastle LL, Borch-Johnsen K, Böttcher Y, Brunner E, Bumpstead SJ, Charpentier G, Chen YD, Chines P, Clarke R, Coin LJ, Cooper MN, Cornelis M, Crawford G, Crisponi L, Day IN, de Geus EJ, Delplanque J, Dina C, Erdos MR, Fedson AC, Fischer-Rosinsky A, Forouhi NG, Fox CS, Frants R, Franzosi MG, Galan P, Goodarzi MO, Graessler J, Groves CJ, Grundy S, Gwilliam R, Gyllensten U, Hadjadj S, Hallmans G, Hammond N, Han X, Hartikainen AL, Hassanali N, Hayward C, Heath SC, Hercberg S, Herder C, Hicks AA, Hillman DR, Hingorani AD, Hofman A, Hui J, Hung J, Isomaa B, Johnson PR, Jørgensen T, Jula A, Kaakinen M, Kaprio J, Kesaniemi YA, Kivimaki M, Knight B, Koskinen S, Kovacs P, Kyvik KO, Lathrop GM, Lawlor DA, Le Bacquer O, Lecoeur C, Li Y, Lyssenko V, Mahley R, Mangino M, Manning AK, Martínez-Larrad MT, McAteer JB, McCulloch LJ, McPherson R, Meisinger C, Melzer D, Meyre D, Mitchell BD, Morken MA, Mukherjee S, Naitza S, Narisu N, Neville MJ, Oostra BA, Orrù M, Pakyz R, Palmer CN, Paolisso G, Pattaro C, Pearson D, Peden JF, Pedersen NL, Perola M, Pfeiffer AF, Pichler I, Polasek O, Posthuma D, Potter SC, Pouta A, Province MA, Psaty BM, Rathmann W, Rayner NW, Rice K, Ripatti S, Rivadeneira F, Roden M, Rolandsson O, Sandbaek A, Sandhu M, Sanna S, Sayer AA, Scheet P, Scott LJ, Seedorf U, Sharp SJ, Shields B, Sigurethsson G, Sijbrands EJ, Silveira A, Simpson L, Singleton A, Smith NL, Sovio U, Swift A, Syddall H, Syvänen AC, Tanaka T, Thorand B, Tichet J, Tönjes A, Tuomi T, Uitterlinden AG, van Dijk KW, van Hoek M, Varma D, Visvikis-Siest S, Vitart V, Vogelzangs N, Waeber G, Wagner PJ, Walley A, Walters GB, Ward KL, Watkins H, Weedon MN, Wild SH, Willemsen G, Witteman JC, Yarnell JW, Zeggini E, Zelenika D, Zethelius B, Zhai G, Zhao JH, Zillikens MC; DIAGRAM Consortium; GIANT Consortium; Global BPgen Consortium, Borecki IB, Loos RJ, Meneton P, Magnusson PK, Nathan DM, Williams GH, Hattersley AT, Silander K, Salomaa V, Smith GD, Bornstein SR, Schwarz P, Spranger J, Karpe F, Shuldiner AR, Cooper C, Dedoussis GV, Serrano-Ríos M, Morris AD, Lind L, Palmer LJ, Hu FB, Franks PW, Ebrahim S, Marmot M, Kao WH, Pankow JS, Sampson MJ, Kuusisto J, Laakso M, Hansen T, Pedersen O, Pramstaller PP, Wichmann HE, Illig T, Rudan I, Wright AF, Stumvoll M, Campbell H, Wilson JF; Anders Hamsten on behalf of Procardis Consortium; MAGIC investigators, Bergman RN, Buchanan TA, Collins FS, Mohlke KL, Tuomilehto J, Valle TT, Altshuler D, Rotter JI, Siscovick DS, Penninx BW, Boomsma DI, Deloukas P, Spector TD, Frayling TM, Ferrucci L, Kong A, Thorsteinsdottir U, Stefansson K, van Duijn CM, Aulchenko YS, Cao A, Scuteri A, Schlessinger D, Uda M, Ruokonen A, Jarvelin MR, Waterworth DM, Vollenweider P, Peltonen L, Mooser V, Abecasis GR, Wareham NJ, Sladek R, Froguel P, Watanabe RM, Meigs JB, Groop L, Boehnke M, McCarthy MI, Florez JC, Barroso I. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet. 2010;42:105-16. (abstract)

Igl W, Johansson A, Wilson JF, Wild SH, Polasek O, Hayward C, Vitart V, Hastie N, Rudan P, Gnewuch C, Schmitz G, Meitinger T, Pramstaller PP, Hicks AA, Oostra BA, van Duijn CM, Rudan I, Wright A, Campbell H, Gyllensten U; EUROSPAN Consortium. Modeling of environmental effects in genome-wide association studies identifies SLC2A2 and HP as novel loci influencing serum cholesterol levels. PLoS Genet. 2010 Jan;6(1):e1000798. (abstract)

Heid IM, Henneman P, Hicks A, Coassin S, Winkler T, Aulchenko YS, Fuchsberger C, Song K, Hivert MF, Waterworth DM, Timpson NJ, Richards JB, Perry JR, Tanaka T, Amin N, Kollerits B, Pichler I, Oostra BA, Thorand B, Frants RR, Illig T, Dupuis J, Glaser B, Spector T, Guralnik J, Egan JM, Florez JC, Evans DM, Soranzo N, Bandinelli S, Carlson OD, Frayling TM, Burling K, Smith GD, Mooser V, Ferrucci L, Meigs JB, Vollenweider P, Dijk KW, Pramstaller P, Kronenberg F, van Duijn CM. Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.  Atherosclerosis. 2010;208:412-20. (abstract)

Johansson A, Marroni F, Hayward C, Franklin CS, Kirichenko AV, Jonasson I, Hicks AA, Vitart V, Isaacs A, Axenovich T, Campbell S, Floyd J, Hastie N, Knott S, Lauc G, Pichler I, Rotim K, Wild SH, Zorkoltseva IV, Wilson JF, Rudan I, Campbell H, Pattaro C, Pramstaller P, Oostra BA, Wright AF, van Duijn CM, Aulchenko YS, Gyllensten U; for the EUROSPAN Consortium. Linkage and Genome-wide Association Analysis of Obesity-related Phenotypes: Association of Weight With the MGAT1 Gene. Obesity (Silver Spring). 2010;18(4):803-8. (abstract)

Pichler I, Fuchsberger C, Platzer C, Calişkan M, Marroni F, Pramstaller PP, Ober C. Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes. Eur J Hum Genet. 2010;18:463-70. (abstract)

Verleger R, Hagenah J, Weiss M, Ewers T, Heberlein I, Pramstaller PP, Siebner HR, Klein C. Responsiveness to distracting stimuli, though increased in Parkinson's disease, is decreased in asymptomatic PINK1 and Parkin mutation carriers. Neuropsychologia. 2010;48:467-76. (abstract)

(2009)

Kong A, Steinthorsdottir V, Masson G, Thorleifsson G, Sulem P, Besenbacher S, Jonasdottir A, Sigurdsson A, Kristinsson KT, Jonasdottir A, Frigge ML, Gylfason A, Olason PI, Gudjonsson SA, Sverrisson S, Stacey SN, Sigurgeirsson B, Benediktsdottir KR, Sigurdsson H, Jonsson T, Benediktsson R, Olafsson JH, Johannsson OT, Hreidarsson AB, Sigurdsson G; DIAGRAM Consortium, Ferguson-Smith AC, Gudbjartsson DF, Thorsteinsdottir U, Stefansson K. Parental origin of sequence variants associated with complex diseases. Nature. 2009;462(7275):868-74. (abstract)

Marroni F, Pfeufer A, Aulchenko Y, Franklin CS, Isaacs A, Pichler I, Wild SH, Oostra BA, Wright AF, Campbell H, Kääb S, Hicks AA, Gyllensten U, Rudan I, Meitinger T, Pattaro C, Van Dujin C, Wilson JF, Pramstaller PP. A genome-wide association scan of QT and RR interval in three European isolated populations. The EUROSPAN project. Circ Cardiovasc Genet. 2009;2:322. (abstract)

 Volpato CB, De Grandi A, Buffone E, Facheris M, Gebert U, Schifferle G, Schönhuber R,  Hicks A, Pramstaller PP. 2q37 as a Susceptibility Locus for Idiopathic Basal Ganglia Calcification (IBGC) in a large South Tyrolean family.J Mol Neurosci. 2009;39:346. (abstract)

 Hicks AA, Pramstaller PP, Johansson A, Vitart V, Rudan I, Ugocsai P, Aulchenko Y, Franklin CS, Liebisch G, Jonasson I, Zorkoltseva IV, Pattaro C, Hayward C, Isaacs A, Campbell S, Gnewuch C, Kirichenko AV, Marroni F, Polasek O, Demirkan A, Kolcic I, Schwienbacher C, Igl W, Biloglav Z, Witteman JC, Pichler I, Zaboli G, Axenovich TI, Hastie N, Oostra BA, Wild SH, Meitinger T, Gyllensten U, van Duijn CM, Wilson JF, Wright A, Schmitz G and Campbell H on behalf of the EUROSPAN consortium. Genetic determinants of circulating sphingolipid concentrations. PLoS Genet. 2009 Oct;5(10):e100067. (abstract)

Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli G, Mariani CB, DeStefano AL, Halter C, Gusella JF, Nichols WC, Myers RH, Foroud T; PROGENI Investigators, Coordinators and Molecular Genetic Laboratories; GenePD Investigators, Coordinators and Molecular Genetic Laboratories. Genomewide association study for onset age in Parkinson disease. BMC Med Genet. 2009;10:98. (abstract)

Gögele M, Pattaro C, Fuchsberger C, Pramstaller PP. Fertility pattern and family structure in three Alpine settlements in South Tyrol (italy): marriage cohorts from 1750 to 1949. J Biosoc Sci. 2009;41(5):697-701. (abstract)

Heard-Costa NL, Zillikens MC, Monda KL, Johansson A, Harris TB, Fu M, Haritunians T, Feitosa MF, Aspelund T, Eiriksdottir G, Garcia M, Launer LJ, Smith AV, Mitchell BD, McArdle PF, Shuldiner AR, Bielinski SJ, Boerwinkle E, Brancati F, Demerath EW, Pankow JS, Arnold AM, Chen YD, Glazer NL, McKnight B, Psaty BM, Rotter JI, Amin N, Campbell H, Gyllensten U, Pattaro C, Pramstaller PP, Rudan I, Struchalin M, Vitart V, Gao X, Kraja A, Province MA, Zhang Q, Atwood LD, Dupuis J, Hirschhorn JN, Jaquish CE, O'Donnell CJ, Vasan RS, White CC, Aulchenko YS, Estrada K, Hofman A, Rivadeneira F, Uitterlinden AG, Witteman JC, Oostra BA, Kaplan RC, Gudnason V, O'Connell JR, Borecki IB, van Duijn CM, Cupples LA, Fox CS, North KE. NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. PLoS Genet. 2009;5(6):e1000539. (abstract)

Mascalzoni D, Hicks A, Pramstaller P. Consenting in Population Genomics as an Open Communication Process. Studies in Ethics, Law, and Technology: 2009 Vol. 3:Iss. 1, Article 2.

Endicott P, Sanchez JJ, Pichler I, Brotherton P, Brooks J, Egarter-Vigl E, Cooper A, Pramstaller P. Genotyping human ancient mtDNA control and coding region polymorphisms with a multiplexed Single-Base-Extension assay: the singular maternal history of the Tyrolean Iceman. BMC Genet. 2009;10:29. (abstract)

Pichler I, Marroni F, Pattaro C, Lohmann K, de Grandi A, Klein C, Hicks AA, Pramstaller PP. Parkin gene modifies the effect of RLS4 on the age at onset of restless legs syndrome (RLS). Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 12. (abstract)

Kolz M, Johnson T, Sanna S, Teumer A, Vitart V, Perola M, Mangino M, Albrecht E, Wallace C, Farrall M, Johansson A, Nyholt DR, Aulchenko Y, Beckmann JS, Bergmann S, Bochud M, Brown M, Campbell H; EUROSPAN Consortium, Connell J, Dominiczak A, Homuth G, Lamina C, McCarthy MI; ENGAGE Consortium, Meitinger T, Mooser V, Munroe P, Nauck M, Peden J, Prokisch H, Salo P, Salomaa V, Samani NJ, Schlessinger D, Uda M, Völker U, Waeber G, Waterworth D, Wang-Sattler R, Wright AF, Adamski J, Whitfield JB, Gyllensten U, Wilson JF, Rudan I, Pramstaller P, Watkins H; PROCARDIS Consortium, Doering A, Wichmann HE; KORA Study, Spector TD, Peltonen L, Völzke H, Nagaraja R, Vollenweider P, Caulfield M; WTCCC, Illig T, Gieger C. Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet. 2009;5(6):e1000504. (abstract)

Djarmati A, Hagenah J, Reetz K, Winkler S, Behrens MI, Pawlack H, Lohmann K, Ramirez A, Tadić V, Brüggemann N, Berg D, Siebner HR, Lang AE, Pramstaller PP, Binkofski F, Kostić VS, Volkmann J, Gasser T, Klein C. ATP13A2 variants in early-onset Parkinson's disease patients and controls. Mov Disord. 2009;24(14):2104-11. (abstract)

Pattaro C, Aulchenko YS, Isaacs A, Vitart V, Hayward C, Franklin CS, Polasek O, Kolcic I, Biloglav Z, Campbell S, Hastie N, Lauc G, Meitinger T, Oostra BA, Gyllensten U, Wilson JF, Pichler I, Hicks AA, Campbell H, Wright AF, Rudan I, van Duijn CM, Riegler P, Marroni F, Pramstaller PP. Genome-wide linkage analysis of serum creatinine in three isolated European populations. Kidney Int. 2009 Apr 22. (abstract)

Pfeufer A, Sanna S, Arking DE, Müller M, Gateva V, Fuchsberger C, Ehret GB, Orrú M, Pattaro C, Köttgen A, Perz S, Usala G, Barbalic M, Li M, Pütz B, Scuteri A, Prineas RJ, Sinner MF, Gieger C, Najjar SS, Kao WH, Mühleisen TW, Dei M, Happle C, Möhlenkamp S, Crisponi L, Erbel R, Jöckel KH, Naitza S, Steinbeck G, Marroni F, Hicks AA, Lakatta E, Müller-Myhsok B, Pramstaller PP, Wichmann HE, Schlessinger D, Boerwinkle E, Meitinger T, Uda M, Coresh J, Kääb S, Abecasis GR, Chakravarti A. Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet. 2009;41:407-14. (abstract)

De Grandi A, Volpato CB, Bedin E, Pattaro C, Marroni F, Pichler I, Hicks AA, Casari G, Pramstaller PP. ParkScreen: A Low-Cost Rapid Linkage Marker Panel for Parkinson's Disease. J Mol Neurosci. 2009 Mar 25 (abstract)

Aulchenko YS, Ripatti S, Lindqvist I, Boomsma D, Heid IM, Pramstaller PP, Penninx BW, Janssens AC, Wilson JF, Spector T, Martin NG, Pedersen NL, Kyvik KO, Kaprio J, Hofman A, Freimer NB, Jarvelin MR, Gyllensten U, Campbell H, Rudan I, Johansson A, Marroni F, Hayward C, Vitart V, Jonasson I, Pattaro C, Wright A,
Hastie N, Pichler I, Hicks AA, Falchi M, Willemsen G, Hottenga JJ, de Geus EJ, Montgomery GW, Whitfield J, Magnusson P, Saharinen J, Perola M, Silander K, Isaacs A, Sijbrands EJ, Uitterlinden AG, Witteman JC, Oostra BA, Elliott P, Ruokonen A, Sabatti C, Gieger C, Meitinger T, Kronenberg F, Döring A, Wichmann HE, Smit JH, McCarthy MI, van Duijn CM, Peltonen L; ENGAGE Consortium. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat Genet. 2009;41:47-55. (abstract)

Johansson A, Marroni F, Hayward C, Franklin CS, Kirichenko AV, Jonasson I, Hicks AA, Vitart V, Isaacs A, Axenovich T, Campbell S, Dunlop MG, Floyd J, Hastie N, Hofman A, Knott S, Kolcic I, Pichler I, Polasek O, Rivadeneira F, Tenesa A, Uitterlinden AG, Wild SH, Zorkoltseva IV, Meitinger T, Wilson JF, Rudan I, Campbell H, Pattaro C, Pramstaller P, Oostra BA, Wright AF, van Duijn CM, Aulchenko YS, Gyllensten U; EUROSPAN Consortium. Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum Mol Genet. 2009;18:373-80. (abstract)

Reetz K, Gaser C, Klein C, Hagenah J, Büchel C, Gottschalk S, Pramstaller PP, Siebner HR, Binkofski F. Structural findings in the basal ganglia in genetically determined and idiopathic Parkinson's disease. Mov Disord. 2009;24:99-103. (abstract)

Brüggemann N, Mitterer M, Lanthaler AJ, Djarmati A, Hagenah J, Wiegers K, Winkler S, Pawlack H, Lohnau T, Pramstaller PP, Klein C, Lohmann K. Frequency of heterozygous Parkin mutations in healthy subjects: Need for careful prospective follow-up examination of mutation carriers. Parkinsonism Relat Disord. 2009 Jan 20. (abstract)

van Nuenen BF, Weiss MM, Bloem BR, Reetz K, van Eimeren T, Lohmann K, Hagenah JM, Pramstaller PP, Binkofski F, Klein C, Siebner HR. Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype. Neurology. 2009;72(12):1041-7 (abstract)

(2008)

Latourelle JC, Sun M, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Goldwurm S, Pezzoli G, Zini M, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Laramie JM, DeStefano AL, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med. 2008;6:32. (abstract)

Barantke M, Krauss T, Ortak J, Lieb W, Reppel M, Burgdorf C, Pramstaller PP, Schunkert H, Bonnemeier H. Effects of gender and aging on differential autonomic responses to orthostatic maneuvers. J Cardiovasc Electrophysiol. 2008;19:1296-303. (abstract)

Mascalzoni D, Hicks A, Pramstaller PP, Wjst M. Informed Consent in the Genomics Era. PLoS Med. 2008;5(9):e192. (abstract)

Destefano AL, Latourelle J, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts R, Guttman M, Racette BA, Perlmutter JS, Marlor L, Shill HA, Singer C, Goldwurm S, Pezzoli G, Saint-Hilaire MH, Hendricks AE, Gower A, Williamson S, Nagle MW, Wilk JB, Massood T, Huskey KW, Baker KB, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-Hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Replication of association between ELAVL4 and Parkinson disease: the GenePD study. Hum Genet. 2008;124:95-9. (abstract)

Facheris MF, Vogl FD, Hollmann S, Sixt G, Pattaro C, Schoenhuber R, Pramstaller PP. Adapted Finnish Migraine-Specific Questionnaire for family studies (FMSQFS): a validation study in two languages. Eur J Neurol. 2008 Aug 19. (abstract)

McNicoll CF, Latourelle JC, MacDonald PhD ME, Lew MF, Suchowersky O, Klein C, Golbe LI, Mark MH, Growdon JH, Wooten GF, Watts RL, Guttman M, Racette BA, Perlmutter JS, Ahmed A, Shill HA, Singer C, Saint-Hilaire MH, Massood T, Huskey KW, DeStefano AL, Gillis T, Mysore J, Goldwurm S, Pezzoli G, Baker K, Itin I, Litvan I, Nicholson G, Corbett A, Nance M, Drasby E, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Al-hinti J, Moller AT, Ostergaard K, Sherman SJ, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: The /Gene/PD Study. Movement Disorders. 2008,22;23:1596-1601. (abstract)

Riegler A, Marroni F, Pattaro C, Gueresi P. and Pramstaller PP. Isolation and marriage patterns in four South Tyrolean Villages (Italy) from 1781 to 1920. J Biosocial Science. 2008,40:787-91. (abstract)

Grazio D, Pichler I, Fuchsberger C, Zolezzi F, Guarnieri P, Heidegger H, Scherer A, Engl B, Messini S, Egarter-Vigl E, Pramstaller PP. Differential gene expression analysis of ovarian cancer in a population isolate. Eur J Gynaecol Oncol. 2008;29:357-63. (abstract)

Tobin JE, Latourelle JC, Lew MF, Klein C, Suchowersky O, Shill HA, Golbe LI, Mark MH, Growdon JH, Wooten GF, Racette BA, Perlmutter JS, Watts R, Guttman M, Baker KB, Goldwurm S, Pezzoli G, Singer C, Saint-Hilaire MH, Hendricks AE, Williamson S, Nagle MW, Wilk JB, Massood T, Laramie JM, Destefano AL, Litvan I, Nicholson G, Corbett A, Isaacson S, Burn DJ, Chinnery PF, Pramstaller PP, Sherman S, Al-Hinti J, Drasby E, Nance M, Moller AT, Ostergaard K, Roxburgh R, Snow B, Slevin JT, Cambi F, Gusella JF, Myers RH. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: The GenePD Study. Neurology. 2008,71:28-34. (abstract)

Volpato CB, De Grandi A, Buffone E, Pichler I, Gebert U, Schifferle G, Schönhuber R, Pramstaller PP.Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC).Am J Med Genet B Neuropsychiatr Genet. 2008;147B:1319-22. (abstract)

MF Facheris, S Maniak, F Scaravilli, B Schüle, C Klein, PP Pramstaller. Pure akinesia as initial presentation of PSP: a clinicopathological study. Parkinsonism Relat Disord. 2008;14:517-9. (abstract)

Kemlink D, Plazzi G, Vetrugno R, Provini F, Polo O, Stiasny-Kolster K, Oertel W, Nevsimalova S, Sonka K, Högl B, Frauscher B, Hadjigeorgiou GM, Pramstaller PP, Lichtner P, Meitinger T, Müller-Myshok B, Winkelmann J, Montagna P. Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13. Neurogenetics. 2008;9:75-82. (abstract)

K. Lohmann-Hedrich, A. Neumann, A. Kleesang, T. Lohnau, H. Muhle, A. Djarmati, I. R. König, P. P. Pramstaller, E. Schwinger, P. L. Kramer, A. Ziegler, U. Stephani, C. Klein. Evidence for linkage of restless legs syndrome to chromosome 9p: Are there two distinct loci? Neurology, 2008; 70:686-94. (abstract) 

Fuchsberger C, Falchi M, Forer L, Pramstaller PP. PedVizApi: a Java API for the interactive, visual analysis of extended pedigrees. Bioinformatics. 2008; 24:279-81. (abstract)

Marroni F., Grazio D., Pattaro C., Devoto M., Pramstaller PP: "Estimates of Genetic and Environmental Contribution to 43 Quantitative Traits Support Sharing of a Homogeneous Environment in an Isolated Population from South Tyrol, Italy", Human Heredity 2008;65:175-82. (abstract)

Pichler I, Hicks AA, Pramstaller PP. Restless legs syndrome: an update on genetics and future perspectives. Clin Genet. 2008;73:297-305. (abstract)

Mark G. Thomas, Ian Barnes, Michael E. Weale, Abigail L. Jones, Peter Forster, Neil Bradman and Peter P. Pramstaller. New genetic evidence supports isolation and drift in the Ladin communities of the South Tyrolean Alps but not an ancient origin in the Middle East. Eur J Hum Genet. 2008;16:124-34. (abstract)

(2007)

Bäumer T, Pramstaller PP, Siebner HR, Schippling S, Hagenah J, Peller M, Gerloff C, Klein C, Münchau A. Sensorimotor integration is abnormal in asymptomatic Parkin mutation carriers: a TMS study. Neurology. 2007;69:1976-81. (abstract)

Johann M. Hagenah, Inke R. König, Björn Becker, Rüdiger Hilker, Meike Kasten, Katja Hedrich, Peter P. Pramstaller, Christine Klein, Günter Seidel. Substantia nigra hyperechogenicity correlates with clinical status and number of Parkin mutated alleles. J Neurol. 2007; 254:1407-13. (abstract)

A. Djarmati, M. Gužvić, A. Grünewald, A.E.Lang, P.P. Pramstaller, D.K. Simon, A.M. Kaindl, P. Vieregge, A. Nygren, C. Beetz, K. Hedrich, and C. Klein. Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification. Mov Disord. 2007;22:1708-14. (abstract)

Ferdinand Binkofski, Kathrin Reetz, Christian Gaser, Rüdiger Hilker, Johann Hagenah, Katja Hedrich, Thilo van Eimeren, Andreas Thiel, Christian Büchel, Peter P. Pramstaller, Hartwig R. Siebner, Christine Klein. Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia. Neurology. 2007;69:842-50. (abstract)

Pattaro C, Marroni F, Riegler A, Mascalzoni D, Pichler I, Volpato CB, Dal Cero U, De Grandi A, Egger C, Eisendle A, Fuchsberger C, Gogele M, Pedrotti S, Pinggera GK, Stefanov SA, Vogl FD, Wiedermann CJ, Meitinger T, Pramstaller PP. The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives. BMC Med Genet. 2007;8:29. (abstract) 

Juliane Winkelmann, Oli Polo, Federica Provini, Sonja Nevsimalova, David Kemlink, Karel Sonka, Birgit Högl, Werner Poewe, Karin Stiasny-Kolster, Wolfgang Oertel, Al de Weerd, Luigi Ferini Strambi, Marco Zucconi, Peter P. Pramstaller, Isabelle Arnulf, Claudia Trenkwalder, Christine Klein, Georgios M. Hadjigeorgiou, Svenja Happe, David Rye, Pasquale Montagna. Genetics of Restless Legs Syndrome (RLS): State-of-the-Art and Future Directions. Mov Disord. 2007;22:449 - 458.

Trenkwalder C, Kohnen R, Allen RP, Benes H, Ferini-Strambi L, Garcia-Borreguero D, Hadjigeorgiou GM, Happe S, Hogl B, Hornyak M, Klein C, Nass A, Montagna P, Oertel WH, O'keeffe S, Paulus W, Poewe W, Provini F, Pramstaller PP, Sieminski M, Sonka K, Stiasny-Kolster K, de Weerd A, Wetter TC, Winkelmann J, Zucconi M.  Clinical trials in restless legs syndrome-Recommendations of the European RLS Study Group (EURLSSG). Mov Disord. 2007;22:495 - 504.

Kemlink D, Polo O, Montagna P, Provini F, Stiasny-Kolster K, Oertel W, de Weerd A, Nevsimalova S, Sonka K, Högl B, Frauscher B, Poewe W, Trenkwalder C, Pramstaller PP, Ferini-Strambi L, Zucconi M, Konofal E, Arnulf I, Hadjigeorgiou GM, Happe S, Klein C, Hiller A, Lichtner P, Meitinger T, Müller-Myshok B, Winkelmann J. Family-based association study of the restless legs syndrome loci 2 and 3 in a European population. Mov Disord. 2007;22:207-12.

(2006)

Wilk JB, Tobin JE, Suchowersky O, Shill H, Klein C, Wooten GF, Lew M, Mark MH, Guttman M, Watts RL, Singer C, Growdon J, Latourelle JC, Saint-Hilaire M, DeStefano AL, Prakash R, Williamson S, Berg CJ, Sun M, Goldwurm S, Pezzoli G, Racette BA, Perlmutter JS, Parsian A, Baker K, Giroux ML, Litvan I, Pramstaller PP, Nicholson GA, Burn DJ, Chinnery PF, Vieregge P, Slevin JT, Cambi F, MacDonald ME, Gusella JF, Myers RH, Golbe LI.  Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: The GenePD Study. Neurology. 2006;67:2206-10. (abstract)

Marroni F, Pichler I, De Grandi A, Beu Volpato C, Vogl FD, Pinggera GK, Bailey-Wilson JE and Pramstaller PP. Population isolates in South Tyrol and their value for genetic dissection of complex diseases. Ann Hum Genet. 2006;70(Pt 6):812-21. (abstract)

Pichler I, Marroni F, Beu Volpato C, Gusella JF, Klein C, Casari G, De Grandi A, Pramstaller PP. Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South tyrolean population isolate. Am J Hum Genet. 2006;79:716-23. (abstract)

Hagenah JM, Hedrich K, Becker B, Pramstaller PP, Seidel G, Klein C. Distinguishing early-onset PD from dopa-responsive dystonia with transcranial sonography. Neurology. 2006;66:1951-2.

Djarmati A, Hedrich K, Svetel M, Lohnau T, Schwinger E, Romac S, Pramstaller PP, Kostic V, Klein C. Heterozygous PINK1 mutations: A susceptibility factor for Parkinson disease? Mov Disord. 2006;21:1526-30. (abstract)

Hedrich K, Winkler S, Hagenah J, Kabakci K, Kasten M, Schwinger E, Volkmann J, Pramstaller PP, Kostic V, Vieregge P, Klein C. Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease. Mov Disord. 2006;21:1506-10. (abstract)

Pichler I, Mueller JC, Stefanov SA, De Grandi A, Volpato Beu C, Pinggera Gk, Mayr A, Ogriseg M, Ploner F, Meitinger T and Pramstaller PP. Genetic structure in contemporary South Tyrolean isolated populations revealed by the analysis of Y chromosome, mtDNA and Alu polymorphisms. Hum Biol 2006;78:441-64. (abstract)

Helmchen C, Schwekendiek A, Pramstaller PP, Hedrich K, Klein C, Rambold H. Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations. J Neurol. 2006;253:1071-5. (abstract)

Sun M, Latourelle JC, Wooten GF, Lew MF, Klein C, Shill HA, Golbe LI, Mark MH, Racette BA, Perlmutter JS, Parsian A, Guttman M, Nicholson G, Xu G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gillis T, MacDonald ME, Myers RH, Gusella JF. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol. 2006;63:826-32. (abstract)

Vogl FD, Pichler I, Adel S, Pinggera GK, Bracco S, De Grandi A, Beu Volpato C, Aridon P, Mayer T, Meitinger T, Klein C, Casari G and Pramstaller PP. Restless Legs Syndrome: Epidemiological and Clinico-Genetic Study in a South Tyrolean Population Isolate. Mov Disord. 2006;21:1189-95. (abstract)

Adel S, Djarmati A, Kabakci K, Pichler I, Eskelson C, Lohnau T, Kock N, Hagenah J, Hedrich K, Schwinger E, Kramer PL, Pramstaller PP, Klein C. Co-occurrence of restless legs syndrome and Parkin mutations in two families. Mov Disord. 2006;21:258-63. (abstract)

(2005)

Karamohamed S, Latourelle JC, Racette BA, Perlmutter JS, Wooten GF, Lew MF, Klein C, Shill H, Golbe LI, Mark MH, Guttman M, Nicholson G, Wilk JB, Saint-Hilaire MH, DeStefano AL, Prakash R, Williamson S, Tobin J, Suchowersky O, Labelle N, Growdon JH, Singer C, Watts RL, Goldwurm S, Pezzoli G, Baker KB, Giroux ML, Pramstaller PP, Burn DJ, Chinnery PF, Sherman S, Vieregge P, Litvan I, Gusella JF, Myers RH, Parsian A. BDNF genetic variants are associated with onset-age of familial Parkinson's disease: GenePD study. Neurology 2005;65:1823-5. (abstract)

Kis B, Hedrich K, Kann M, Schwinger E, Kompf D, Klein C, Pramstaller PP. Oculogyric dystonic states in early-onset parkinsonism with basal ganglia calcifications. Neurology. 2005;65:761. (abstract)

Pramstaller PP, Schlossmacher MG, Jacques TS, Scaravilli F, Eskelson C, Pepivani I, Hedrich K, Adel S, Gonzales-McNeal M, Hilker R, Kramer PL, Klein C. Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. Ann Neurol. 2005;58:411-22. (abstract)

Klein C, Djarmati A, Hedrich K, Schafer N, Scaglione C, Marchese R, Kock N, Schule B, Hiller A, Lohnau T, Winkler S, Wiegers K, Hering R, Bauer P, Riess O, Abbruzzese G, Martinelli P, Pramstaller PP. PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism. Eur J Hum Genet. 2005;13:1086-93. (abstract)

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. 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. Mov Disord. 2005;20:1188-91. (abstract)

Buhmann C, Binkofski F, Klein C, Buchel C, van Eimeren T, Erdmann C, Hedrich K, Kasten M, Hagenah J, Deuschl G, Pramstaller PP, Siebner HR. Motor reorganization in asymptomatic carriers of a single mutant Parkin allele: a human model for presymptomatic parkinsonism. Brain. 2005;128:2281-90. (abstract)

Hedrich K, Pramstaller PP, Stubke 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, Zuhlke C. Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? Mov Disord. 2005;20:1060-2. (abstract)

Berg D, Niwar M, Maass S, Zimprich A, Möller JC, Wuellner U, Schmitz-Hübsch T, Klein C, Tan EK,  L Schöls L, Marsh L, Dawson TM, Janetzky B, Müller T, Woitalla D, Kostic V,  Pramstaller PP, Oertel W, Bauer P, Krueger R, Gasser T, Riess O. Alpha-synuclein and Parkinson's disease – implications from the screening of more than 1900 patients. Mov Disord. 2005;20:1191-4. (abstract)

Mueller JC, Lohmussaar E, Magi R, Remm M, Bettecken T, Lichtner P, Biskup S, Illig T, Pfeufer A, Luedemann J, Schreiber S, Pramstaller P, Pichler I, Romeo G, Gaddi A, Testa A, Wichmann HE, Metspalu A, Meitinger T. Linkage Disequilibrium Patterns and tagSNP Transferability among European Populations. Am J Hum Genet. 2005;76:387-98. (abstract)

(2004)

Roenneberg T, Kuehnle T, Pramstaller PP, Ricken J, Havel M, Guth A, Merrow M. A marker for the end of adolescence. Curr Biol. 2004;14:1038-9. (abstract)

Hedrich K; Eskelson C, Wilmot B3, Marder K, Harris J, Garrels J, Meija-Santana H, Vieregge P, Jacobs H, Bressman S, Lang AE1, Kann M, Abbruzzese G, Martinelli P, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C, Kramer P. Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord. 2004;19:1146-57. (abstract)

Walter U, Klein C, Hilker R, Benecke R, Pramstaller PP, Dressler D. Brain parenchyma sonography detects preclinical parkinsonism. Mov Disord. 2004;19:1445-49. (abstract)

Brusa A, Stoehr R, Pramstaller PP. Progressive Supranuclear Palsy: New Disease or Variant of Postencephalitic Parkinsonism? Mov Disord. 2004;19:247-52. (abstract)

Kock N, Kasten M, Schüle B, Hedrich K, Wiegers K, Kabakci K, Pramstaller PP, Nitschke MS, Sperner J, Klein C. Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. Mov Disord. 2004;19:231-34. (abstract)

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. Mutations in DYT1: Extension of the phenotypic and mutational spectrum. Neurology 2004;62:395-400. (abstract)

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. DJ-1 mutations are less frequent than Parkin mutations in early-onset Parkinson's disease. Neurology 2004;62:389-94. (abstract)

Hedrich K, Schäfer N, Hering R, Hagenah J, Lanthaler AJ, Schwinger E, Kramer PL, Ozelius LJ, Bressman S, Abbruzzese G, Martinelli P, Kostic V, Pramstaller PP, Vieregge P, Riess O, Klein C. The R98Q variation in DJ-1 represents a rare polymorphism. Ann Neurol. 2004; 55:145. (abstract)

(2003)

Karamohamed S, DeStefano AL, Wilk JB, Shoemaker CM, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Baker K, Lew M, Singer C, Watts R, Currie LJ, Wooten GF, Saint-Hilaire M, Feldman RG, Sullivan KM, Xu G, Perlmutter J, Racette B, Parsian A, Suchowersky O, Lafontaine AL, Labelle N, Growdon J, Vieregge P, Pramstaller P, Klein C, Stacy M, Gusella JF, Fink SJ, Myers RH, Herbert, A. A haplotype at the PARK3 locus influences onset age for Parkinson disease: The GenePD study. Neurology 2003;61:1557-61. (abstract)

Wellenbrock C, Hedrich K, Schafer N, Kasten M, Jacobs H, Schwinger E, Hagenah J, Pramstaller PP, Vieregge P, Klein C. NR4A2 mutations are rare among European patients with familial Parkinson's disease. Ann Neurol. 2003;54:415. (abstract)

Klein C, Hedrich K, Wellenbrock C, Kann M, Harris J, Marder K, Lang AE, Schwinger E, Ozelius LJ, Vieregge P, Pramstaller PP, Kramer PL. Frequency of parkin mutations in late-onset Parkinson's disease. Ann Neurol. 2003;54:415-416. (abstract)

(2002)

Müller B, Hedrich K, Kock N, Dragasevic N, Svetel M, Garrels J, Landt O, Nitschke P, Pramstaller PP, Reik W, Schwinger E, Sperner J, Ozelius L, Kostic V, Klein Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am J Hum Genet 2002;71:1303-11. (abstract)

Klein C, Hedrich K, Kabakçi K, Mohrmann K, Wiegers K, Landt O, Hagenah J, Schwinger E, Pramstaller PP, Ozelius LJ, Gucuyener K, Aysun S, Demir E. Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia. Neurology 2002 10;59:1783-6. (abstract)

Kock N, Müller B, Vieregge P, Pramstaller PP, Marder K, Abbruzzese G, Martinelli P, Lang AE, Jacobs H, Hagenah J, Harris J, Meija-Santana H, Fahn S, Hedrich K, Kann M, Gehlken U, Culjkovic B, Schwinger E, Wszolek ZK, Zühlke C, Klein C. Role of SCA-2 mutations in early- and late-onset dopa-responsive parkinsonism. Ann Neurol 2002;52:257-8. (abstract)

Kock N, Culjkovic, Maniak S, Schilling K, Müller B, Zühlke C, Klein C, Pramstaller PP, Kramer PL. Mode of inheritance and susceptibility locus for restless legs syndrome on chromosome 12q. Am J Hum Genet 2002;71:205-8. (abstract)

Kis B, Schrag A, Ben-Shlomo Y, Klein C, Gasperi A, Spoegler F, Schoenhuber R, Pramstaller PP. Novel three-stage ascertainment method: Prevalence of PD and parkinsonism in South Tyrol, Italy. Neurology 2002;58: 1820-26. (abstract)

Kann M, Vieregge P, Jacobs H, Mohrmann K, Schumacher K, Hedrich K, Garrels J, Schwinger E, Pramstaller PP, Breakefield XO, Ozelius LJ, Klein C. The role of parkin mutations in 111 community-derived patients with early-onset parkinsonism. Ann Neurol 2002;51:621-25. (abstract)

Vitaliani R, Scaravilli T, Scaravilli F, An SF, Pramstaller PP. The pathology of the spinal cord in progressive supranuclear palsy. Neuropathol Appl Neurobiol 2002;28:149-150. (abstract)

Hedrich K, Marder K,. Harris J., Kann M, Lynch T, Meija-Santana H, Pramstaller PP, Schwinger E, Bressman SB, Fahn S, Klein C. Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 2002;58:1239-46. (abstract)

Pramstaller PP, Kis B, Eskelson C, Hedrich K, Scherer M, Schwinger E, Breakefield XO, Kramer PL, Ozelius LJ, Klein C. Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene. Mov Disord 2002;17:424-26. (abstract)

DeStefano Al,  Lew MF, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Waters CH, Singer C, Watts RL, Currie LJ, Wooten GF, Maher NE, Wilk JB, Sullivan KM, Slater KM, Saint-Hilaire MH, Feldman RG, Suchowersky O, Lafontaine A, Labelle A, Growdon JK, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Reider CR, Stacy M, MacDonald ME, Gusella J, Myers RH. PARK3 influences Parkinson's disease onset age: A genome scan in the GenePD Study. Am J Hum Genet 2002;70:1089-95. (abstract)

Hilker R, Klein C, Hedrich K, Ozelius LJ, Vieregge P, Herholz K, Pramstaller PP, Heiss WD. The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans. Neurosci Lett 2002;323:50-54. (abstract)

Vitaliani R, Scaravilli T, Egarter-Vigl E, Giometto B, Klein C, Scaravilli F, An SF, Pramstaller PP. The pathology of the spinal cord in progressive supranuclear palsy. J Neuropathol Exp Neurol 2002;61:268-74. (abstract)

Pramstaller PP, Künig G, Leenders K, Kann M, Hedrich K, Vieregge P, Goetz CG, Klein C. Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study.
Neurology. 2002;58:808-10. (abstract)

Kann M, Hedrich K, Marder K, Harris J, Meija-Santana H, Vieregge P, Jacobs H, Müller B, Kock N, Bressman SB, Lang AE, Schwinger E, Ozelius LJ, Pramstaller PP, Klein C. The parkin gene is not involved in late-onset Parkinson's disease. Neurology 2002;58:835. (abstract)

Muenchau A, Orth M, Rothwell JC, Di Lazzaro V, Oliviero A, Profice P, Tonali P, Pramstaller PP, Bhatia KP. Intracortical inhibition is reduced in a patient with a lesion in the posterolateral thalamus. Mov Disord 2002;17:208-12. (abstract)

Maher NE, Golbe LI, Lazzarini AM, Mark MH, Currie LJ, Wooten GF, Saint-Hilaire M, Wilk JB, Volcjak J, Mahre JE, Feldman RG, Guttman M, Lew M, Schuman S, Suchowersky O, Lafontaine AL, Labelle N, Vieregge P, Pramstaller PP, Klein C, Hubble J, Reider C, Growdon J, Watts R, Montgomery E, Baker K, Singer C, Stacy M, Myers RH. Epidemiologic study of 203 sibling pairs with Parkinson's disease: the GenePD study.
Neurology 2002;58:79-84. (abstract)

(2001)

Piccini P, DeYebenez J, Lees AJ, Ceravolo R, Turjanski N, Pramstaller PP, Brooks DJ. Familial progressive supranuclear palsy: detection of subclinical cases using 18F-dopa and 18FDG PET. Arch Neurol. 2001;58:1846-51. (abstract)

DeStefano AL, Golbe LI, Mark M, Lazzarini AM, Maher NE, Saint-Hilaire MH, Feldman RG, Guttman M, Watts RL, Suchowersky O, Lafontaine AL, Labelle N, Lew MF, Waters CH, Growdon JH, Singer C, Currie LJ, Wooten GF, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Stacy M, Montgomery E, MacDonald ME, Gusella JF, Myers RH. Genome-wide scan for Parkinson's Disease: The GenePD Study. Neurology 2001;57:1124-6. (abstract)

Leung JC, Klein C, Friedman J, Vieregge P, Jacobs H, Doheny D, Kamm C, DeLeon D, Pramstaller PP, Penney JB, Eisengart M, Jankovic J, Gasser T, Bressman SB, Corey DP, Kramer P, Brin MF, Ozelius LJ, Breakefield XO. Novel mutation in the TOR1A (DYT1) gene in atypical, early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001;3:133-43. (abstract)

Hedrich K, Kann M, Lanthaler AJ, Dalski A, Eskelson C, Landt O, Schwinger E, Vieregge P, Lang, AE, Breakefield XO, Ozelius LJ, Pramstaller PP, Klein C. The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001;10:1649-56. (abstract)

Hilker R, Klein C, Ghaemi M, Kis B, Strotmann T, Ozelius LJ, Lenz O, Vieregge P, Herholz K, Heiss WD, Pramstaller PP. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 2001;49:367-76. (abstract)

(2000)

Brusa A, Pramstaller PP. Ante litteram description of atypical parkinsonian cases. Neurol Sci 2000;21:407-9. (abstract)

Klein C, Kann M, Kis B, Pramstaller PP, Breakefield XO, Ozelius LJ, Vieregge P. The genetics of dystonia. Nervenarzt 2000;71 431-41. (abstract)

Klein C, Schumacher K, Jacobs J, Hagenah J, Kis B, Garrels J, Schwinger E, Ozelius LO, Pramstaller PP, Vieregge P, Kramer PL. Association studies of Parkinson's disease and parkin polymorphisms. Ann Neurol 2000; 48:126-27. (abstract)

Scaravilli T, Pramstaller PP, Salerno A, Egarter-Vigl E, Giometto B, Vitaliani R, An SF, Revesz T. Neuronal loss in Onuf's nucleus in three patients with progressive supranuclear palsy. Ann Neurol 2000;48:97-101. (abstract)

Klein C, Pramstaller PP, Kis B, Page CC, Kann M, Leung J, Woodward H, Castellan CC, Scherer M, Vieregge P, Breakefield XO, Kramer PL, Ozelius LJ. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000; 48:65-71. (abstract)

Di Maria E, Tabaton M, Vigo T, Abbruzzese G, Bellone E, Donati C, Frasson E, Marchese R, Montagna P, Munoz DG, Pramstaller PP, Zanusso G, Ajmar F, Mandich P. Corticobasal degeneration shares a common genetic background with progressive supranuclear palsy. Ann Neurol 2000; 47:374-77. (abstract)

(1999)

Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, de Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB. Genetic testing for early-onset torsion dystonia (DYT1): Introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. Genet Test 1999; 4:323-28. (abstract)

Pramstaller PP, Salerno A, Bhatia KP, Prugger M. Marsden CD. Primary central nervous system lymphoma (PCNS) presenting with a parkinsonian syndrome of pure akinesia. J Neurol 1999; 246:934-38. (abstract)

Whurr R, Bhatia K, Masarie A, Lorch M, Kingsley K, Pramstaller PP, Srinivasan AV, Marsden CD. The incidence and nature of dysphagia following botulinum toxin injections for torticollis: a prospective study of 123 patients. J Medical Speech-Language Pathology 1999;7:195-207.

Rojo A, Pernaute RS,  Fontán A, Ruíz PG,  Honnorat J, Lynch T, Chin S, Gonzalo I, Rábano A, Martínez A, Daniel S, Pramstaller PP, Morris H, Wood N, Lees A, Tabernero C, T Nygaard, Jackson AC, Hanson A, de Yébenes JG. Clinical genetics of familial progressive supranuclear palsy. Brain 1999;122:1233-45. (abstract)

Pramstaller PP, Falk M, Schoenhuber R, Poewe W. Validation of a mail questionnaire for parkinsonism in two languages (German and Italian). J Neurol 1999;246:79-86. (abstract)

(1998)

Klein C, Pramstaller PP, Castellan CC, Breakefield XO, Kramer PL, Ozelius LJ. Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol. Ann Neurol. 1998;44:394-98. (abstract)

(1997)

Wenning GK, Pramstaller PP, Ransmayr G, Poewe W. Atypical Parkinson syndrome. Nervenarzt 1997;68:102-15. (abstract)

Leiguarda RC, Pramstaller PP, Merello M, Starkstein S, Lees AJ, Marsden CD. Apraxia in Parkinson's disease, progressive supranuclear palsy, multiple system atrophy and neurolepic-induced parkinsonism. Brain, 1997; 120:75-90. (abstract)

(1996)

Pramstaller PP, Lees AJ, Luxon LM. Possible clinical overlap between postencephalitic parkinsonism and progressive supranuclear palsy. J Neurol Neurosurg Psychiatry 1996;60:589-90. (abstract)

Pramstaller PP, Marsden CD. The Basal Ganglia and Apraxia. Brain 1996;119:319-40. (abstract)

(1995)

Pramstaller PP, Wenning GK, Beck R, Quinn NP, Fowler CJ. Nerve conduction studies, skeletal muscle EMG and sphincter EMG in multiple system atrophy. J Neurol Neurosurg Psychiatry 1995;58:618-21. (abstract)

Pramstaller PP, Wenning GK, Granata R, Quinn NP. Atrofia multisistemica. Caratteristiche di un parkinsonismo atipico. Nuova Riv di Neurologia 1995;5:111-16.