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Genome-wide association study reveals genetic risk underlying Parkinson's disease
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Artigo
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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
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies
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MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

TRABZUNI, Daniah ; WRAY, Selina ; AREPALLI, Sampath ; SINGLETON, Andrew B ; COOKSON, Mark R ; PITTMAN, Alan M ; DE SILVA, Rohan ; WEALE, Michael E ; HARDY, John ; RYTEN, Mina ; VANDROVCOVA, Jana ; RAMASAMY, Adaikalavan ; WALKER, Robert ; SMITH, Colin ; LUK, Connie ; RAPHAEL GIBBS, J ; DILLMAN, Allissa ; HERNANDEZ, Dena G

Human molecular genetics, 2012-09, Vol.21 (18), p.4094-4103 [Periódico revisado por pares]

Oxford: Oxford University Press

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3
A Genome-wide Association Study of Myasthenia Gravis
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Artigo
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A Genome-wide Association Study of Myasthenia Gravis

Renton, Alan E ; Pliner, Hannah A ; Provenzano, Carlo ; Evoli, Amelia ; Ricciardi, Roberta ; Nalls, Michael A ; Marangi, Giuseppe ; Abramzon, Yevgeniya ; Arepalli, Sampath ; Chong, Sean ; Hernandez, Dena G ; Johnson, Janel O ; Bartoccioni, Emanuela ; Scuderi, Flavia ; Maestri, Michelangelo ; Gibbs, J. Raphael ; Errichiello, Edoardo ; Chiò, Adriano ; Restagno, Gabriella ; Sabatelli, Mario ; Macek, Mark ; Scholz, Sonja W ; Corse, Andrea ; Chaudhry, Vinay ; Benatar, Michael ; Barohn, Richard J ; McVey, April ; Pasnoor, Mamatha ; Dimachkie, Mazen M ; Rowin, Julie ; Kissel, John ; Freimer, Miriam ; Kaminski, Henry J ; Sanders, Donald B ; Lipscomb, Bernadette ; Massey, Janice M ; Chopra, Manisha ; Howard, James F ; Koopman, Wilma J ; Nicolle, Michael W ; Pascuzzi, Robert M ; Pestronk, Alan ; Wulf, Charlie ; Florence, Julaine ; Blackmore, Derrick ; Soloway, Aimee ; Siddiqi, Zaeem ; Muppidi, Srikanth ; Wolfe, Gil ; Richman, David ; Mezei, Michelle M ; Jiwa, Theresa ; Oger, Joel ; Drachman, Daniel B ; Traynor, Bryan J

JAMA neurology, 2015-04, Vol.72 (4), p.396-404 [Periódico revisado por pares]

United States: American Medical Association

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4
The Parkinson's Disease Mendelian Randomization Research Portal
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Artigo
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The Parkinson's Disease Mendelian Randomization Research Portal

Noyce, Alastair J. ; Bandres‐Ciga, Sara ; Kim, Jonggeol ; Heilbron, Karl ; Kia, Demis ; Hemani, Gibran ; Xue, Angli ; Lawlor, Debbie A. ; Smith, George Davey ; Duran, Raquel ; Gan‐Or, Ziv ; Blauwendraat, Cornelis ; Gibbs, J. Raphael ; Hinds, David A. ; Yang, Jian ; Visscher, Peter ; Cuzick, Jack ; Morris, Huw ; Hardy, John ; Wood, Nicholas W. ; Nalls, Mike A. ; Singleton, Andrew B.

Movement disorders, 2019-12, Vol.34 (12), p.1864-1872 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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5
Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies
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Artigo
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Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies

Geiger, Joshua T ; Ding, Jinhui ; Crain, Barbara ; Pletnikova, Olga ; Letson, Christopher ; Dawson, Ted M ; Rosenthal, Liana S ; Pantelyat, Alexander ; Gibbs, J. Raphael ; Albert, Marilyn S ; Hernandez, Dena G ; Hillis, Argye E ; Stone, David J ; Singleton, Andrew B ; Hardy, John A ; Troncoso, Juan C ; Scholz, Sonja W

Neurobiology of disease, 2016-10, Vol.94, p.55-62 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Genetic comorbidities in Parkinson's disease
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Artigo
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Genetic comorbidities in Parkinson's disease

Nalls, Mike A ; Saad, Mohamad ; Noyce, Alastair J ; Keller, Margaux F ; Schrag, Anette ; Bestwick, Jonathan P ; Traynor, Bryan J ; Gibbs, J Raphael ; Hernandez, Dena G ; Cookson, Mark R ; Morris, Huw R ; Williams, Nigel ; Gasser, Thomas ; Heutink, Peter ; Wood, Nick ; Hardy, John ; Martinez, Maria ; Singleton, Andrew B

Human molecular genetics, 2014-02, Vol.23 (3), p.831-841 [Periódico revisado por pares]

England: Oxford University Press

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7
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release
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Artigo
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A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release

Matarín, Mar, PhD ; Brown, W Mark, MA ; Scholz, Sonja, MD ; Simón-Sánchez, Javier, BS ; Fung, Hon-Chung, MD ; Hernandez, Dena, MS ; Gibbs, J Raphael, BS ; De Vrieze, Fabienne Wavrant, PhD ; Crews, Cynthia ; Britton, Angela, MS ; Langefeld, Carl D, PhD ; Brott, Thomas G, MD ; Brown, Robert D, MD ; Worrall, Bradford B, MD ; Frankel, Michael, MD ; Silliman, Scott, MD ; Case, L Douglas, PhD ; Singleton, Andrew, Dr ; Hardy, John A, PhD ; Rich, Stephen S, PhD ; Meschia, James F, MD

Lancet neurology, 2007-05, Vol.6 (5), p.414-420 [Periódico revisado por pares]

England: Elsevier Ltd

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8
Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms
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Artigo
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Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms

Blauwendraat, Cornelis ; Heilbron, Karl ; Vallerga, Costanza L. ; Bandres‐Ciga, Sara ; von Coelln, Rainer ; Pihlstrøm, Lasse ; Simón‐Sánchez, Javier ; Schulte, Claudia ; Sharma, Manu ; Krohn, Lynne ; Siitonen, Ari ; Iwaki, Hirotaka ; Leonard, Hampton ; Noyce, Alastair J. ; Tan, Manuela ; Gibbs, J. Raphael ; Hernandez, Dena G. ; Scholz, Sonja W. ; Jankovic, Joseph ; Shulman, Lisa M. ; Lesage, Suzanne ; Corvol, Jean‐Christophe ; Brice, Alexis ; van Hilten, Jacobus J. ; Marinus, Johan ; Eerola‐Rautio, Johanna ; Tienari, Pentti ; Majamaa, Kari ; Toft, Mathias ; Grosset, Donald G. ; Gasser, Thomas ; Heutink, Peter ; Shulman, Joshua M. ; Wood, Nicolas ; Hardy, John ; Morris, Huw R. ; Hinds, David A. ; Gratten, Jacob ; Visscher, Peter M. ; Gan‐Or, Ziv ; Nalls, Mike A. ; Singleton, Andrew B.

Movement disorders, 2019-06, Vol.34 (6), p.866-875 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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9
Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients
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Artigo
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Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients

Traynor, Bryan J. ; Nalls, Michael ; Lai, Shiao-Lin ; Gibbs, Raphael J. ; Schymick, Jennifer C. ; Arepalli, Sampath ; Hernandez, Dena ; van der Brug, Marcel P. ; Johnson, Janel O. ; Dillman, Allissa ; Cookson, Mark ; Moglia, Cristina ; Calvo, Andrea ; Restagno, Gabriella ; Mora, Gabriele ; Chiò, Adriano ; Cleveland, Don W.

Proceedings of the National Academy of Sciences - PNAS, 2010-07, Vol.107 (27), p.12335-12338 [Periódico revisado por pares]

United States: National Academy of Sciences

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10
A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease
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Artigo
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A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease

Hartl, Daniela ; May, Patrick ; Gu, Wei ; Mayhaus, Manuel ; Pichler, Sabrina ; Spaniol, Christian ; Glaab, Enrico ; Bobbili, Dheeraj Reddy ; Antony, Paul ; Koegelsberger, Sandra ; Kurz, Alexander ; Grimmer, Timo ; Morgan, Kevin ; Vardarajan, Badri N ; Reitz, Christiane ; Hardy, John ; Bras, Jose ; Guerreiro, Rita ; Balling, Rudi ; Schneider, Jochen G ; Riemenschneider, Matthias

Molecular psychiatry, 2020-03, Vol.25 (3), p.629-639 [Periódico revisado por pares]

England: Nature Publishing Group

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