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Genome-wide association study reveals genetic risk underlying Parkinson's disease
Genome-wide association study reveals genetic risk underlying Parkinson's disease
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Genome-wide association study reveals genetic risk underlying Parkinson's disease

Singleton, Andrew B ; Gasser, Thomas ; Simón-Sánchez, Javier ; Schulte, Claudia ; Bras, Jose M ; Sharma, Manu ; Gibbs, J Raphael ; Berg, Daniela ; Paisan-Ruiz, Coro ; Lichtner, Peter ; Scholz, Sonja W ; Hernandez, Dena G ; Krüger, Rejko ; Federoff, Monica ; Klein, Christine ; Goate, Alison ; Perlmutter, Joel ; Bonin, Michael ; Nalls, Michael A ; Illig, Thomas ; Gieger, Christian ; Houlden, Henry ; Steffens, Michael ; Okun, Michael S ; Racette, Brad A ; Cookson, Mark R ; Foote, Kelly D ; Fernandez, Hubert H ; Traynor, Bryan J ; Schreiber, Stefan ; Arepalli, Sampath ; Zonozi, Ryan ; Gwinn, Katrina ; van der Brug, Marcel ; Lopez, Grisel ; Chanock, Stephen J ; Schatzkin, Arthur ; Park, Yikyung ; Hollenbeck, Albert ; Gao, Jianjun ; Huang, Xuemei ; Wood, Nick W ; Lorenz, Delia ; Deuschl, Günther ; Chen, Honglei ; Riess, Olaf ; Hardy, John A

Nature genetics, 2009-12, Vol.41 (12), p.1308-1312 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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2
Coding variation in GBA explains the majority of the SYT11‐GBA Parkinson's disease GWAS locus
Coding variation in GBA explains the majority of the SYT11‐GBA Parkinson's disease GWAS locus
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Coding variation in GBA explains the majority of the SYT11‐GBA Parkinson's disease GWAS locus

Blauwendraat, Cornelis ; Bras, Jose M. ; Nalls, Mike A. ; Lewis, Patrick A. ; Hernandez, Dena G. ; Singleton, Andrew B.

Movement disorders, 2018-11, Vol.33 (11), p.1821-1823 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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3
Genotype, haplotype and copy-number variation in worldwide human populations
Genotype, haplotype and copy-number variation in worldwide human populations
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Genotype, haplotype and copy-number variation in worldwide human populations

Rosenberg, Noah A ; Singleton, Andrew B ; Jakobsson, Mattias ; Scholz, Sonja W ; Scheet, Paul ; Gibbs, J. Raphael ; VanLiere, Jenna M ; Fung, Hon-Chung ; Szpiech, Zachary A ; Degnan, James H ; Wang, Kai ; Guerreiro, Rita ; Bras, Jose M ; Schymick, Jennifer C ; Hernandez, Dena G ; Traynor, Bryan J ; Simon-Sanchez, Javier ; Matarin, Mar ; Britton, Angela ; van de Leemput, Joyce ; Rafferty, Ian ; Bucan, Maja ; Cann, Howard M ; Hardy, John A

Nature, 2008-02, Vol.451 (7181), p.998-1003 [Periódico revisado por pares]

London: Nature Publishing

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4
EIF4G1 mutations do not cause Parkinson's disease
EIF4G1 mutations do not cause Parkinson's disease
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EIF4G1 mutations do not cause Parkinson's disease

Nichols, Noah ; Bras, Jose M ; Hernandez, Dena G ; Jansen, Iris E ; Lesage, Suzanne ; Lubbe, Steven ; Singleton, Andrew B

Neurobiology of aging, 2015-08, Vol.36 (8), p.2444.e1-2444.e4 [Periódico revisado por pares]

United States: Elsevier Inc

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5
DYT16 , a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
DYT16 , a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
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DYT16 , a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA

Camargos, Sarah, MD ; Scholz, Sonja, MD ; Simón-Sánchez, Javier, MS ; Paisán-Ruiz, Coro, PhD ; Lewis, Patrick, PhD ; Hernandez, Dena, MS ; Ding, Jinhui, PhD ; Gibbs, J Raphael, BA ; Cookson, Mark R, PhD ; Bras, Jose, MS ; Guerreiro, Rita, MS ; Oliveira, Catarina Resende, MD ; Lees, Andrew, MD ; Hardy, John, PhD ; Cardoso, Francisco, MD ; Singleton, Andrew B, PhD

Lancet neurology, 2008-03, Vol.7 (3), p.207-215 [Periódico revisado por pares]

England: Elsevier Ltd

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6
Analysis of Genome-Wide Association Studies of Alzheimer Disease and of Parkinson Disease to Determine If These 2 Diseases Share a Common Genetic Risk
Analysis of Genome-Wide Association Studies of Alzheimer Disease and of Parkinson Disease to Determine If These 2 Diseases Share a Common Genetic Risk
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Analysis of Genome-Wide Association Studies of Alzheimer Disease and of Parkinson Disease to Determine If These 2 Diseases Share a Common Genetic Risk

Moskvina, Valentina ; Harold, Denise ; Russo, GianCarlo ; Vedernikov, Alexey ; Sharma, Manu ; Saad, Mohamad ; Holmans, Peter ; Bras, Jose M ; Bettella, Francesco ; Keller, Margaux F ; Nicolaou, Nayia ; Simón-Sánchez, Javier ; Gibbs, J. Raphael ; Schulte, Claudia ; Durr, Alexandra ; Guerreiro, Rita ; Hernandez, Dena ; Brice, Alexis ; Stefánsson, Hreinn ; Majamaa, Kari ; Gasser, Thomas ; Heutink, Peter ; Wood, Nick ; Martinez, Maria ; Singleton, Andrew B ; Nalls, Michael A ; Hardy, John ; Owen, Michael J ; O’Donovan, Michael C ; Williams, Julie ; Morris, Huw R ; Williams, Nigel M

JAMA neurology, 2013-10, Vol.70 (10), p.1268-1276 [Periódico revisado por pares]

United States: American Medical Association

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7
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets
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Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets

Kia, Demis A ; Zhang, David ; Guelfi, Sebastian ; Manzoni, Claudia ; Hubbard, Leon ; Reynolds, Regina H ; Botía, Juan ; Ryten, Mina ; Ferrari, Raffaele ; Lewis, Patrick A ; Williams, Nigel ; Trabzuni, Daniah ; Hardy, John ; Wood, Nicholas W

Archives of neurology (Chicago), 2021-04, Vol.78 (4), p.464-472 [Periódico revisado por pares]

United States: American Medical Association

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8
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease
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Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

Cruchaga, Carlos ; Karch, Celeste M ; Jin, Sheng Chih ; Benitez, Bruno A ; Cai, Yefei ; Guerreiro, Rita ; Harari, Oscar ; Norton, Joanne ; Budde, John ; Bertelsen, Sarah ; Jeng, Amanda T ; Cooper, Breanna ; Skorupa, Tara ; Carrell, David ; Levitch, Denise ; Hsu, Simon ; Choi, Jiyoon ; Ryten, Mina ; Sassi, Celeste ; Bras, Jose ; Gibbs, Raphael J ; Hernandez, Dena G ; Lupton, Michelle K ; Powell, John ; Forabosco, Paola ; Ridge, Perry G ; Corcoran, Christopher D ; Tschanz, JoAnn T ; Norton, Maria C ; Munger, Ronald G ; Schmutz, Cameron ; Leary, Maegan ; Demirci, F Yesim ; Bamne, Mikhil N ; Wang, Xingbin ; Lopez, Oscar L ; Ganguli, Mary ; Medway, Christopher ; Turton, James ; Lord, Jenny ; Braae, Anne ; Barber, Imelda ; Brown, Kristelle ; Pastor, Pau ; Lorenzo-Betancor, Oswaldo ; Brkanac, Zoran ; Scott, Erick ; Topol, Eric ; Morgan, Kevin ; Rogaeva, Ekaterina ; Singleton, Andy ; Hardy, John ; Kamboh, M Ilyas ; George-Hyslop, Peter St ; Cairns, Nigel ; Morris, John C ; Kauwe, John S K ; Goate, Alison M

Nature (London), 2014-01, Vol.505 (7484), p.550-554 [Periódico revisado por pares]

England: Nature Publishing Group

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9
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease
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Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease

Blauwendraat, Cornelis ; Reed, Xylena ; Kia, Demis A ; Gan-Or, Ziv ; Lesage, Suzanne ; Pihlstrøm, Lasse ; Guerreiro, Rita ; Gibbs, J. Raphael ; Sabir, Marya ; Ahmed, Sarah ; Ding, Jinhui ; Alcalay, Roy N ; Hassin-Baer, Sharon ; Pittman, Alan M ; Brooks, Janet ; Edsall, Connor ; Hernandez, Dena G ; Chung, Sun Ju ; Goldwurm, Stefano ; Toft, Mathias ; Schulte, Claudia ; Bras, Jose ; Wood, Nicholas W ; Brice, Alexis ; Morris, Huw R ; Scholz, Sonja W ; Nalls, Mike A ; Singleton, Andrew B ; Cookson, Mark R

JAMA neurology, 2018-11, Vol.75 (11), p.1416-1422 [Periódico revisado por pares]

United States: American Medical Association

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10
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies
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Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies

Bras, Jose ; Guerreiro, Rita ; Darwent, Lee ; Parkkinen, Laura ; Ansorge, Olaf ; Escott-Price, Valentina ; Hernandez, Dena G ; Nalls, Michael A ; Clark, Lorraine N ; Honig, Lawrence S ; Marder, Karen ; Van Der Flier, Wiesje M ; Lemstra, Afina ; Scheltens, Philip ; Rogaeva, Ekaterina ; St George-Hyslop, Peter ; Londos, Elisabet ; Zetterberg, Henrik ; Ortega-Cubero, Sara ; Pastor, Pau ; Ferman, Tanis J ; Graff-Radford, Neill R ; Ross, Owen A ; Barber, Imelda ; Braae, Anne ; Brown, Kristelle ; Morgan, Kevin ; Maetzler, Walter ; Berg, Daniela ; Troakes, Claire ; Al-Sarraj, Safa ; Lashley, Tammaryn ; Compta, Yaroslau ; Revesz, Tamas ; Lees, Andrew ; Cairns, Nigel ; Halliday, Glenda M ; Mann, David ; Pickering-Brown, Stuart ; Dickson, Dennis W ; Singleton, Andrew ; Hardy, John

Human molecular genetics, 2014-12, Vol.23 (23), p.6139-6146 [Periódico revisado por pares]

England: Oxford University Press

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