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Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease
Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease
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Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease

Liu, Ganqiang ; Peng, Jiajie ; Liao, Zhixiang ; Locascio, Joseph J ; Corvol, Jean-Christophe ; Zhu, Frank ; Dong, Xianjun ; Maple-Grødem, Jodi ; Campbell, Meghan C ; Elbaz, Alexis ; Lesage, Suzanne ; Brice, Alexis ; Mangone, Graziella ; Growdon, John H ; Hung, Albert Y ; Schwarzschild, Michael A ; Hayes, Michael T ; Wills, Anne-Marie ; Herrington, Todd M ; Ravina, Bernard ; Shoulson, Ira ; Taba, Pille ; Kõks, Sulev ; Beach, Thomas G ; Cormier-Dequaire, Florence ; Alves, Guido ; Tysnes, Ole-Bjørn ; Perlmutter, Joel S ; Heutink, Peter ; Amr, Sami S ; van Hilten, Jacobus J ; Kasten, Meike ; Mollenhauer, Brit ; Trenkwalder, Claudia ; Klein, Christine ; Barker, Roger A ; Williams-Gray, Caroline H ; Marinus, Johan ; Scherzer, Clemens R

Nature genetics, 2021-06, Vol.53 (6), p.787-793 [Periódico revisado por pares]

United States: Nature Publishing Group

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2
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
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Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

Müller, Ulrich ; Schellenberg, Gerard D ; Höglinger, Günter U ; Melhem, Nadine M ; Dickson, Dennis W ; Sleiman, Patrick M A ; Wang, Li-San ; Klei, Lambertus ; Rademakers, Rosa ; de Silva, Rohan ; Litvan, Irene ; Riley, David E ; van Swieten, John C ; Heutink, Peter ; Wszolek, Zbigniew K ; Uitti, Ryan J ; Vandrovcova, Jana ; Hurtig, Howard I ; Gross, Rachel G ; Maetzler, Walter ; Goldwurm, Stefano ; Tolosa, Eduardo ; Borroni, Barbara ; Pastor, Pau ; Cantwell, Laura B ; Han, Mi Ryung ; Dillman, Allissa ; van der Brug, Marcel P ; Gibbs, J Raphael ; Cookson, Mark R ; Hernandez, Dena G ; Singleton, Andrew B ; Farrer, Matthew J ; Yu, Chang-En ; Golbe, Lawrence I ; Revesz, Tamas ; Hardy, John ; Lees, Andrew J ; Devlin, Bernie ; Hakonarson, Hakon

Nature genetics, 2011-07, Vol.43 (7), p.699-705 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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3
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies
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Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies

Piras, Giovanna ; Galver, Luana ; Peltonen, Leena ; Monne, Maria ; Varilo, Teppo ; Peddle, Lynette ; van Duijn, Cornelia ; Ospina, Jorge ; Freimer, Nelson ; Palha, Joana Almeida ; Jarvelin, Marjo-Riitta ; Aulchenko, Yurii ; Rahman, Proton ; Roos, J Louw ; Bedoya, Gabriel ; Heutink, Peter ; Service, Susan ; Macedo, António ; Pretorious, Herman ; Ruiz-Linares, Andres ; Collins, Andrew ; Sabatti, Chiara ; Karayiorgou, Maria ; DeYoung, Joseph ; Oostra, Ben ; Murray, Sarah

Nature genetics, 2006-05, Vol.38 (5), p.556-560 [Periódico revisado por pares]

London: Nature Publishing Group

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4
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

Njajou, Omer T ; Vaessen, Norbert ; Joosse, Marijke ; Berghuis, Bianca ; van Dongen, Jeroen W.F ; Breuning, Martijn H ; Snijders, Pieter J.L.M ; Rutten, Wim P.F ; Sandkuijl, Lodewijk A ; Oostra, Ben A ; van Duijn, Cornelia M ; Heutink, Peter

Nature genetics, 2001-07, Vol.28 (3), p.213-214 [Periódico revisado por pares]

London: Nature Publishing Group

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5
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
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Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Rouleau, Guy A ; Nohira, Osamu ; Mathieu, Jean ; Heutink, Peter ; Duranceau, André ; Codère, Francois ; Fardeau, Michel ; Brais, Bernard ; Korcyn, Amos D ; Chrétien, Nathalie ; Rochefort, Daniel L ; Tomé, Fernando M.S ; Xie, Ya-Gang ; Rommens, Johanna M ; Blumen, Segiu ; Lafrentére, Ronald G ; Uyama, Eichiro ; Bouchard, Jean-Pierre

Nature genetics, 1998-02, Vol.18 (2), p.164-167 [Periódico revisado por pares]

London: Nature Publishing Group

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6
Common variants at 7p21 are associated with fronto- temporal lobar degeneration with TDP-43 inclusions
Common variants at 7p21 are associated with fronto- temporal lobar degeneration with TDP-43 inclusions
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Common variants at 7p21 are associated with fronto- temporal lobar degeneration with TDP-43 inclusions

VAN DEERLIN, Vivianna M ; SLEIMAN, Patrick M. A ; ARNOLD, Steven E ; MANN, David M. A ; PICKERING-BROWN, Stuart M ; SEELAAR, Harro ; HEUTINK, Peter ; VAN SWIETEN, John C ; MURRELL, Jill R ; GHETTI, Bernardino ; SPINA, Salvatore ; GRAFMAN, Jordan ; MARTINEZ-LAGE, Maria ; HODGES, John ; GRAZIA SPILLANTINI, Maria ; GILMAN, Sid ; LIEBERMAN, Andrew P ; KAYE, Jeffrey A ; WOLTJER, Randall L ; BIGIO, Eileen H ; MESULAM, Marsel ; AL-SARRAJ, Safa ; TROAKES, Claire ; CHEN-PLOTKIN, Alice ; ROSENBERG, Roger N ; WHITE, Charles L ; FERRER, Isidro ; LLADO, Albert ; NEUMANN, Manuela ; KRETZSCHMAR, Hans A ; HULETTE, Christine Marie ; WELSH-BOHMER, Kathleen A ; MILLER, Bruce L ; ALZUALDE, Ainhoa ; WANG, Li-San ; DE MUNAIN, Adolfo Lopez ; MCKEE, Ann C ; GEARING, Marla ; LEVEY, Allan I ; LAH, James J ; HARDY, John ; ROHRER, Jonathan D ; LASHLEY, Tammaryn ; MACKENZIE, Ian R. A ; FELDMAN, Howard H ; GRAFF-RADFORD, Neill R ; HAMILTON, Ronald L ; DEKOSKY, Steven T ; VAN DER ZEE, Julie ; KUMAR-SINGH, Samir ; VAN BROECKHOVEN, Christine ; MAYEUX, Richard ; VONSATTEL, Jean Paul G ; TRONCOSO, Juan C ; KRIL, Jillian J ; KWOK, John B. J ; DICKSON, Dennis W ; RADEMAKERS, Rosa ; BOEVE, Bradley F ; GROSSMAN, Murray

Nature genetics, 2010, Vol.42 (3), p.234-239 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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7
The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q
The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q
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The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q

Zguricas, Julia ; Weissenbach, Jean ; Lindhout, Dick ; Hovius, Steven E.R ; Heutink, Peter ; Oosterhout, Linda van ; Breedveld, Guido J ; Oostra, Ben A ; Sandkuijl, Lodewijk A ; Testers, Leon ; Snijders, Pieter J.L.M

Nature genetics, 1994-03, Vol.6 (3), p.287-292 [Periódico revisado por pares]

London: Nature Publishing Group

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8
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
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Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

Nalls, Mike A ; Pankratz, Nathan ; Lill, Christina M ; Do, Chuong B ; Hernandez, Dena G ; Saad, Mohamad ; DeStefano, Anita L ; Kara, Eleanna ; Bras, Jose ; Sharma, Manu ; Schulte, Claudia ; Keller, Margaux F ; Arepalli, Sampath ; Letson, Christopher ; Edsall, Connor ; Stefansson, Hreinn ; Liu, Xinmin ; Pliner, Hannah ; Lee, Joseph H ; Cheng, Rong ; Ikram, M Arfan ; Ioannidis, John PA ; Hadjigeorgiou, Georgios M ; Bis, Joshua C ; Martinez, Maria ; Perlmutter, Joel S ; Goate, Alison ; Marder, Karen ; Fiske, Brian ; Sutherland, Margaret ; Xiromerisiou, Georgia ; Myers, Richard H ; Clark, Lorraine N ; Stefansson, Kari ; Hardy, John A ; Heutink, Peter ; Chen, Honglei ; Wood, Nicholas W ; Houlden, Henry ; Payami, Haydeh ; Brice, Alexis ; Scott, William K ; Gasser, Thomas ; Bertram, Lars ; Eriksson, Nicholas ; Foroud, Tatiana ; Singleton, Andrew B

Nature Genetics, 2014-09, Vol.46 (9), p.989-993

eScholarship, University of California

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9
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

Höglinger, Günter U ; Melhem, Nadine M ; Dickson, Dennis W ; Sleiman, Patrick MA ; Wang, Li-San ; Klei, Lambertus ; Rademakers, Rosa ; de Silva, Rohan ; Litvan, Irene ; Riley, David E ; van Swieten, John C ; Heutink, Peter ; Wszolek, Zbigniew K ; Uitti, Ryan J ; Vandrovcova, Jana ; Hurtig, Howard I ; Gross, Rachel G ; Maetzler, Walter ; Goldwurm, Stefano ; Tolosa, Eduardo ; Borroni, Barbara ; Pastor, Pau ; Cantwell, Laura B ; Han, Mi Ryung ; Dillman, Allissa ; van der Brug, Marcel P ; Gibbs, J Raphael ; Cookson, Mark R ; Hernandez, Dena G ; Singleton, Andrew B ; Farrer, Matthew J ; Yu, Chang-En ; Golbe, Lawrence I ; Revesz, Tamas ; Hardy, John ; Lees, Andrew J ; Devlin, Bernie ; Hakonarson, Hakon ; Müller, Ulrich ; Schellenberg, Gerard D

Nature Genetics, 2011-07, Vol.43 (7), p.699-705

eScholarship, University of California

Sem texto completo

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10
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Van Deerlin, Vivianna M ; Sleiman, Patrick MA ; Martinez-Lage, Maria ; Chen-Plotkin, Alice ; Wang, Li-San ; Graff-Radford, Neill R ; Dickson, Dennis W ; Rademakers, Rosa ; Boeve, Bradley F ; Grossman, Murray ; Arnold, Steven E ; Mann, David MA ; Pickering-Brown, Stuart M ; Seelaar, Harro ; Heutink, Peter ; van Swieten, John C ; Murrell, Jill R ; Ghetti, Bernardino ; Spina, Salvatore ; Grafman, Jordan ; Hodges, John ; Spillantini, Maria Grazia ; Gilman, Sid ; Lieberman, Andrew P ; Kaye, Jeffrey A ; Woltjer, Randall L ; Bigio, Eileen H ; Mesulam, Marsel ; al-Sarraj, Safa ; Troakes, Claire ; Rosenberg, Roger N ; White, Charles L ; Ferrer, Isidro ; Lladó, Albert ; Neumann, Manuela ; Kretzschmar, Hans A ; Hulette, Christine Marie ; Welsh-Bohmer, Kathleen A ; Miller, Bruce L ; Alzualde, Ainhoa ; de Munain, Adolfo Lopez ; McKee, Ann C ; Gearing, Marla ; Levey, Allan I ; Lah, James J ; Hardy, John ; Rohrer, Jonathan D ; Lashley, Tammaryn ; Mackenzie, Ian RA ; Feldman, Howard H ; Hamilton, Ronald L ; Dekosky, Steven T ; van der Zee, Julie ; Kumar-Singh, Samir ; Van Broeckhoven, Christine ; Mayeux, Richard ; Vonsattel, Jean Paul G ; Troncoso, Juan C ; Kril, Jillian J ; Kwok, John BJ ; Halliday, Glenda M ; Bird, Thomas D ; Ince, Paul G ; Shaw, Pamela J ; Cairns, Nigel J ; Morris, John C ; McLean, Catriona Ann ; DeCarli, Charles ; Ellis, William G ; Freeman, Stefanie H ; Frosch, Matthew P ; Growdon, John H ; Perl, Daniel P ; Sano, Mary ; Bennett, David A ; Schneider, Julie A ; Beach, Thomas G ; Reiman, Eric M ; Woodruff, Bryan K ; Cummings, Jeffrey ; Vinters, Harry V ; Miller, Carol A ; Chui, Helena C ; Alafuzoff, Irina ; Hartikainen, Päivi ; Seilhean, Danielle ; Galasko, Douglas ; Masliah, Eliezer ; Cotman, Carl W ; Tuñón, M Teresa ; Martínez, M Cristina Caballero ; Munoz, David G ; Carroll, Steven L ; Marson, Daniel ; Riederer, Peter F ; Bogdanovic, Nenad ; Schellenberg, Gerard D ; Hakonarson, Hakon ; Trojanowski, John Q ; Lee, Virginia M-Y

Nature Genetics, 2010-03, Vol.42 (3), p.234-239

eScholarship, University of California

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