|
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
175 auth.
S. Lesage,
Valérie Drouet,
E. Majounie,
V. Deramecourt,
Maxime Jacoupy,
A. Nicolas,
F. Cormier‐Dequaire,
S. Hassoun,
C. Pujol,
S. Ciura,
Z. Erpapazoglou,
T. Usenko,
C. Maurage,
M. Sahbatou,
S. Liebau,
...
Jinhui Ding,
B. Bilgiç,
M. Emre,
N. Erginel-Unaltuna,
G. Guven,
F. Tison,
C. Tranchant,
M. Vidailhet,
J. Corvol,
P. Krack,
A. Leutenegger,
M. Nalls,
D. Hernandez,
P. Heutink,
J. R. Gibbs,
J. Hardy,
N. Wood,
T. Gasser,
A. Durr,
J. Deleuze,
M. Tazir,
A. Destée,
E. Lohmann,
E. Kabashi,
A. Singleton,
O. Corti,
A. Brice,
Y. Agid,
M. Anheim,
A. Bonnet,
M. Borg,
E. Broussolle,
P. Damier,
A. Dürr,
F. Durif,
S. Klebe,
Miguel Ángel Martínez,
P. Pollak,
O. Rascol,
M. Vérin,
F. Viallet,
J. Corvol,
S. Arepalli,
R. Barker,
Y. Ben-Shlomo,
D. Berg,
F. Bettella,
K. Bhatia,
Rob M.A. de Bie,
A. Biffi,
Bastiaan R. Bloem,
Z. Bochdanovits,
M. Bonin,
J. Bras,
K. Brockmann,
J. Brooks,
D. Burn,
G. Charlesworth,
Honglei Chen,
P. Chinnery,
Sean B. Chong,
C. Clarke,
M. Cookson,
C. Counsell,
J. Dartigues,
P. Deloukas,
G. Deuschl,
D. Dexter,
Karin D. van Dijk,
Allissa Dillman,
Jing Dong,
F. Durif,
S. Edkins,
V. Escott-Price,
J. Evans,
T. Foltynie,
Jianjun Gao,
M. Gardner,
A. Goate,
Emma V. Gray,
Rita Guerreiro,
C. Harris,
Jacobus J. van Hilten,
A. Hofman,
A. Hollenbeck,
P. Holmans,
J. Holton,
M. Hu,
Xuemei Huang,
H. Huber,
G. Hudson,
S. Hunt,
J. Huttenlocher,
T. Illig,
Pálmi V. Jónsson,
L. Kilarski,
I. Jansen,
J. Lambert,
C. Langford,
A. Lees,
P. Lichtner,
P. Limousin,
G. Lopez,
D. Lorenz,
S. Lubbe,
C. Lungu,
Miguel Ángel Martínez,
W. Mätzler,
A. McNeill,
C. Moorby,
Matthew Moore,
K. Morrison,
E. Mudanohwo,
S. O'sullivan,
M. Owen,
J. Pearson,
J. Perlmutter,
H. Petursson,
V. Plagnol,
B. Post,
Simon C. Potter,
B. Ravina,
T. Révész,
O. Riess,
F. Rivadeneira,
P. Rizzu,
M. Ryten,
M. Saad,
J. Simón-Sánchez,
S. Sawcer,
A. Schapira,
H. Scheffer,
C. Schulte,
M. Sharma,
K. Shaw,
U. Sheerin,
I. Shoulson,
J. Shulman,
E. Sidransky,
C. Spencer,
H. Stefánsson,
K. Stefánsson,
J. Stockton,
A. Strange,
K. Talbot,
C. Tanner,
Avazeh Tashakkori-Ghanbaria,
D. Trabzuni,
B. Traynor,
A. Uitterlinden,
D. Velseboer,
R. Walker,
Bart van de Warrenburg,
M. Wickremaratchi,
C. Williams-Gray,
S. Winder-Rhodes,
I. Wurster,
N. Williams,
H. Morris,
A. Singleton
|
8 |
2016 |
8
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|
🐜
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Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease
137 auth.
L. Robak,
I. Jansen,
J. V. van Rooij,
A. Uitterlinden,
R. Kraaij,
J. Jankovic,
P. Heutink,
J. Shulman,
M. Nalls,
Vincent Plagnol,
Dena G. Hernandez,
M. Sharma,
U. Sheerin,
M. Saad,
J. Simón-Sánchez,
...
C. Schulte,
S. Lesage,
S. Sveinbjörnsdóttir,
S. Arepalli,
Roger A Barker,
Yoav Ben-,
H. Berendse,
Daniela Berg,
K. Bhatia,
R. D. de Bie,
Alessandro Biffi,
B. Bloem,
Z. Bochdanovits,
Michael Bonin,
J. Bras,
K. Brockmann,
J. Brooks,
David J. Burn,
E. Majounie,
G. Charlesworth,
C. Lungu,
Honglei Chen,
P. Chinnery,
Sean B. Chong,
Carl E. Clarke,
M. Cookson,
J. Mark Cooper,
J. Corvol,
Carl Counsell,
P. Damier,
J. Dartigues,
P. Deloukas,
Günther Deuschl,
David Dexter,
K. van Dijk,
Allissa Dillman,
F. Durif,
A. Dürr,
S. Edkins,
J. Evans,
T. Foltynie,
Jing Dong,
M. Gardner,
J. Raphael Gibbs,
Alison M. Goate,
Emma V. Gray,
Rita Guerreiro,
C. Harris,
J. J. van Hilten,
A. Hofman,
A. Hollenbeck,
J. Holton,
Michele T M Hu,
Xuemei Huang,
I. Wurster,
W. Mätzler,
G. Hudson,
Sarah E. Hunt,
J. Huttenlocher,
T. Illig,
Pálmi V. Jónsson,
J. Lambert,
C. Langford,
A. Lees,
P. Lichtner,
P. Limousin,
G. Lopez,
D. Lorenz,
A. McNeill,
C. Moorby,
Matthew Moore,
Huw R Morris,
K. Morrison,
V. Escott-Price,
E. Mudanohwo,
S. O'sullivan,
J. Pearson,
J. Perlmutter,
H. Petursson,
Pierre Pollak,
Bart Post,
Simon C. Potter,
Bernard Ravina,
T. Révész,
Olaf Riess,
F. Rivadeneira,
P. Rizzu,
M. Ryten,
S. Sawcer,
A. Schapira,
Hans Scheffer,
K. Shaw,
Ira Shoulson,
Joshua M. Shulman,
E. Sidransky,
Colin Smith,
C. Spencer,
H. Stefánsson,
F. Bettella,
J. Stockton,
A. Strange,
Kevin Talbot,
C. Tanner,
Avazeh Tashakkori-Ghanbaria,
François Tison,
D. Trabzuni,
B. Traynor,
D. Velseboer,
M. Vidailhet,
R. Walker,
Bart P C van de Warrenburg,
M. Wickremaratchi,
N. Williams,
C. Williams-Gray,
S. Winder-Rhodes,
K. Stefansson,
Miguel Ángel Martínez,
N. Wood,
John A Hardy,
A. Brice,
Thomas Gasser,
Andrew B. Singleton
|
8 |
2017 |
8
🐜
|
|
🐜
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A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease
100 auth.
V. Plagnol,
M. Nalls,
J. Bras,
D. Hernandez,
M. Sharma,
U. Sheerin,
M. Saad,
J. Simón-Sánchez,
C. Schulte,
S. Lesage,
S. Sveinbjörnsdóttir,
P. Amouyel,
S. Arepalli,
R. Barker,
C. Bellinguez,
...
Y. Ben-Shlomo,
H. Berendse,
D. Berg,
K. Bhatia,
R. D. Bie,
A. Biffi,
B. Bloem,
Z. Bochdanovits,
M. Bonin,
K. Brockmann,
J. Brooks,
D. Burn,
G. Charlesworth,
Honglei Chen,
P. Chinnery,
Sean B. Chong,
C. Clarke,
M. Cookson,
J. Cooper,
J. Corvol,
C. Counsell,
P. Damier,
J. Dartigues,
P. Deloukas,
G. Deuschl,
D. Dexter,
K. D. Dijk,
Allissa Dillman,
F. Durif,
A. Durr,
S. Edkins,
J. Evans,
T. Foltynie,
C. Freeman,
Jianjun Gao,
M. Gardner,
J. Gibbs,
A. Goate,
Emma V. Gray,
R. Guerreiro,
Ó. Gústafsson,
C. Harris,
G. Hellenthal,
J. V. Hilten,
A. Hofman,
A. Hollenbeck,
J. Holton,
M. Hu,
Xuemei Huang,
H. Huber,
G. Hudson,
S. Hunt,
J. Huttenlocher,
T. Illig,
P. Jonsson,
C. Langford,
A. Lees,
P. Lichtner,
P. Limousin,
G. Lopez,
D. Lorenz,
A. McNeill,
C. Moorby,
Matthew Moore,
H. Morris,
K. Morrison,
E. Mudanohwo,
S. O'sullivan,
J. Pearson,
R. Pearson,
J. Perlmutter,
H. Petursson,
M. Pirinen,
P. Pollak,
B. Post,
Simon C. Potter,
B. Ravina,
T. Révész,
O. Riess,
F. Rivadeneira,
P. Rizzu,
M. Ryten,
S. Sawcer,
P. Heutink,
N. Wood
|
8 |
2011 |
8
🐜
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|
🐜
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Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21
50 auth.
C. Spencer,
V. Plagnol,
A. Strange,
M. Gardner,
C. Paisán-Ruiz,
G. Band,
R. Barker,
C. Bellenguez,
K. Bhatia,
H. Blackburn,
J. M. Blackwell,
E. Bramon,
M. A. Brown,
M. A. Brown,
D. Burn,
...
J. Casas,
P. Chinnery,
C. Clarke,
A. Corvin,
N. Craddock,
P. Deloukas,
S. Edkins,
Jonathan Evans,
C. Freeman,
Emma V. Gray,
J. Hardy,
G. Hudson,
S. Hunt,
Janusz Jankowski,
C. Langford,
A. Lees,
H. Markus,
C. Mathew,
M. McCarthy,
K. Morrison,
C. Palmer,
J. Pearson,
L. Peltonen,
M. Pirinen,
R. Plomin,
Simon C. Potter,
A. Rautanen,
S. Sawcer,
Z. Su,
R. Trembath,
A. Viswanathan,
N. Williams,
H. Morris,
P. Donnelly,
N. Wood
|
7 |
2010 |
7
🐜
|
|
🐜
|
Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing
166 auth.
Iris E. Jansen,
Hui Ye,
S. Heetveld,
M. Lechler,
Helen Michels,
Renée Seinstra,
S. Lubbe,
Valérie Drouet,
S. Lesage,
E. Majounie,
J. R. Gibbs,
Mike A. Nalls,
M. Ryten,
J. Botía,
J. Vandrovcova,
...
J. Simón-Sánchez,
Melissa Castillo-Lizardo,
P. Rizzu,
Cornelis Blauwendraat,
Amit K. Chouhan,
Yarong Li,
Puja Yogi,
N. Amin,
C. V. van Duijn,
Mike A. Nalls,
V. Plagnol,
D. Hernandez,
M. Sharma,
U. Sheerin,
M. Saad,
Javier SimónSánchez,
C. Schulte,
S. Lesage,
S. Sveinbjörnsdóttir,
S. Arepalli,
R. Barker,
Y. Ben-Shlomo,
H. Berendse,
D. Berg,
K. Bhatia,
R. D. de Bie,
A. Biffi,
B. Bloem,
Z. Bochdanovits,
M. Bonin,
J. Bras,
K. Brockmann,
J. Brooks,
D. Burn,
E. Majounie,
S. Lubbe,
Iris E. Jansen,
Ryan Price,
A. Nicolas,
G. Charlesworth,
C. Lungu,
Honglei Chen,
P. Chinnery,
Sean B. Chong,
C. Clarke,
M. Cookson,
J. Cooper,
J. Corvol,
C. Counsell,
P. Damier,
J. Dartigues,
P. Deloukas,
G. Deuschl,
D. Dexter,
K. van Dijk,
Allissa Dillman,
F. Durif,
A. Dürr,
S. Edkins,
J. Evans,
T. Foltynie,
Jing Dong,
M. Gardner,
J. R. Gibbs,
A. Goate,
Emma V. Gray,
Rita Guerreiro,
C. Harris,
J. J. van Hilten,
A. Hofman,
A. Hollenbeck,
J. Holton,
M. Hu,
I. Wurster,
W. Mätzler,
G. Hudson,
S. Hunt,
J. Huttenlocher,
T. Illig,
Pálmi V. Jónsson,
J. Lambert,
C. Langford,
A. Lees,
P. Lichtner,
P. Limousin,
G. Lopez,
D. Lorenz,
A. McNeill,
C. Moorby,
Matthew Moore,
Huw R Morris,
K. Morrison,
V. Escott-Price,
E. Mudanohwo,
S. O'sullivan,
J. Pearson,
J. Perlmutter,
H. Petursson,
P. Pollak,
B. Post,
Simon C. Potter,
B. Ravina,
T. Révész,
O. Riess,
F. Rivadeneira,
P. Rizzu,
M. Ryten,
S. Sawcer,
A. Schapira,
H. Scheffer,
K. Shaw,
I. Shoulson,
Joshua M. Shulman,
E. Sidransky,
Colin Smith,
C. Spencer,
H. Stefánsson,
F. Bettella,
J. Stockton,
A. Strange,
K. Talbot,
C. Tanner,
Avazeh Tashakkori-Ghanbaria,
F. Tison,
D. Trabzuni,
B. Traynor,
A. Uitterlinden,
D. Velseboer,
M. Vidailhet,
R. Walker,
Bart P C van de Warrenburg,
M. Wickremaratchi,
N. Williams,
C. Williams-Gray,
S. Winder-Rhodes,
K. Stefánsson,
Miguel Ángel Martínez,
N. Wood,
J. Hardy,
Peter Heutink,
A. Brice,
T. Gasser,
A. Singleton,
Huw R Morris,
A. Brice,
A. Singleton,
Della C. David,
E. Nollen,
S. Jain,
Joshua M. Shulman,
Peter Heutink
|
6 |
2017 |
6
🐜
|
|
🐜
|
Association of NOD2 with Crohn's Disease in a homogenous Irish population
14 auth.
E. Bairead,
D. Harmon,
A. Curtis,
Y. Kelly,
C. O'Leary,
M. Gardner,
Dermot T Leahy,
Pat Vaughan,
D. Keegan,
C. O'Morain,
...
D. O'Donoghue,
F. Shanahan,
N. Parfrey,
K. Quane
|
6 |
2003 |
6
🐜
|
|
🐜
|
SNP analysis to results (SNPator): a web-based environment oriented to statistical genomics analyses upon SNP data
17 auth.
C. Morcillo-Suarez,
J. Alegre,
Ricardo Sangros,
Elodie Gazave,
R. Cid,
R. Milne,
J. Amigo,
A. Ferrer-Admetlla,
A. Moreno-Estrada,
M. Gardner,
...
F. Casals,
A. Pérez-Lezaun,
D. Comas,
E. Bosch,
F. Calafell,
J. Bertranpetit,
A. Navarro
|
6 |
2008 |
6
🐜
|
|
🦁
|
Extreme population differences across Neuregulin 1 gene, with implications for association studies
7 auth.
M. Gardner,
A. González-Neira,
O. Lao,
O. Lao,
F. Calafell,
J. Bertranpetit,
...
D. Comas
|
6 |
2006 |
6
🦁
|
|
🐜
|
Family‐based association study of neuregulin‐1 gene and psychosis in a Spanish sample
9 auth.
A. Rosa,
M. Gardner,
M. Cuesta,
V. Peralta,
M. Fatjó-Vilas,
S. Miret,
...
M. Navarro,
David Comas,
Lourdes Fañanás
|
4 |
2007 |
4
🐜
|
|
🦁
|
Extreme individual marker FST values do not imply population-specific selection in humans: the NRG1 example
8 auth.
M. Gardner,
S. Williamson,
F. Casals,
E. Bosch,
A. Navarro,
F. Calafell,
...
J. Bertranpetit,
D. Comas
|
4 |
2007 |
4
🦁
|
