|
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Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria
47 auth.
G. Höglinger,
G. Respondek,
M. Stamelou,
C. Kurz,
K. Josephs,
A. Lang,
B. Mollenhauer,
U. Müller,
C. Nilsson,
J. Whitwell,
T. Arzberger,
E. Englund,
E. Gelpí,
A. Giese,
D. Irwin,
...
W. Meissner,
Alexander Y. Pantelyat,
A. Rajput,
J. V. van Swieten,
C. Troakes,
A. Antonini,
K. Bhatia,
Y. Bordelon,
Y. Compta,
J. Corvol,
C. Colosimo,
D. Dickson,
R. Dodel,
L. Ferguson,
M. Grossman,
J. Kassubek,
F. Krismer,
J. Levin,
S. Lorenzl,
H. Morris,
P. Nestor,
W. Oertel,
W. Poewe,
G. Rabinovici,
J. Rowe,
G. Schellenberg,
K. Seppi,
Thilo van Eimeren,
G. Wenning,
A. Boxer,
L. Golbe,
I. Litvan
|
10 |
2017 |
10
🐜
|
|
🐢
|
Mutations in SDHC cause autosomal dominant paraganglioma, type 3
S. Niemann,
U. Müller
|
9 |
2000 |
9
🐢
|
|
🐜
|
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis
12 auth.
E. Jabs,
U. Müller,
Xiang Li,
Liang Ma,
W. Luo,
I. Haworth,
...
I. Klisak,
R. Sparkes,
M. Warman,
J. Mulliken,
M. Snead,
R. Maxson
|
9 |
1993 |
9
🐜
|
|
🐜
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Identification of common variants influencing risk of the tauopathy Progressive Supranuclear Palsy
147 auth.
G. Höglinger,
N. Melhem,
D. Dickson,
P. Sleiman,
Li-San Wang,
L. Klei,
R. Rademakers,
R. Silva,
I. Litvan,
D. Riley,
J. Swieten,
P. Heutink,
Z. Wszolek,
R. Uitti,
J. Vandrovcova,
...
H. Hurtig,
R. Gross,
W. Maetzler,
S. Goldwurm,
E. Tolosa,
B. Borroni,
P. Pastor,
P. Pastor,
L. Cantwell,
Mi-Ryung Han,
Allissa Dillman,
M. Brug,
J. R. Gibbs,
J. R. Gibbs,
M. Cookson,
D. Hernandez,
D. Hernandez,
A. Singleton,
M. Farrer,
Chang-En Yu,
L. Golbe,
T. Révész,
J. Hardy,
A. Lees,
B. Devlin,
H. Hakonarson,
U. Müller,
G. Schellenberg,
R. Albin,
E. Alonso,
E. Alonso,
A. Antonini,
M. Apfelbacher,
S. Arnold,
J. Avila,
T. Beach,
Sherry Beecher,
D. Berg,
T. Bird,
N. Bogdanovic,
A. Boon,
Y. Bordelon,
A. Brice,
A. Brice,
A. Brice,
H. Budka,
M. Canesi,
W. Z. Chiu,
R. Cilia,
C. Colosimo,
P. P. Deyn,
J. G. D. Yébenes,
L. D. Kaat,
R. Duara,
A. Durr,
A. Durr,
A. Durr,
S. Engelborghs,
G. Fabbrini,
N. Finch,
Robyn Flook,
M. Frosch,
C. Gaig,
Douglas Galasko,
T. Gasser,
M. Gearing,
Evan T. Geller,
B. Ghetti,
N. Graff-Radford,
M. Grossman,
D. Hall,
L. Hazrati,
M. Höllerhage,
J. Jankovic,
J. Juncos,
A. Karydas,
H. Kretzschmar,
I. Leber,
I. Leber,
I. Leber,
V. Lee,
A. Lieberman,
K. Lyons,
C. Mariani,
E. Masliah,
L. Massey,
Catriona A. McLean,
N. Meucci,
B. Miller,
B. Mollenhauer,
J. C. Möller,
H. Morris,
Christopher M Morris,
S. O'sullivan,
W. Oertel,
D. Ottaviani,
A. Padovani,
R. Pahwa,
G. Pezzoli,
S. Pickering-Brown,
W. Poewe,
A. Rábano,
A. Rajput,
S. Reich,
G. Respondek,
S. Roeber,
J. Rohrer,
O. Ross,
M. Rossor,
G. Sacilotto,
W. Seeley,
K. Seppi,
L. Silveira-Moriyama,
S. Spina,
K. Srulijes,
P. George-Hyslop,
P. George-Hyslop,
M. Stamelou,
D. Standaert,
S. Tesei,
W. Tourtellotte,
C. Trenkwalder,
C. Troakes,
J. Trojanowski,
J. Troncoso,
V. Deerlin,
J. Vonsattel,
G. Wenning,
C. White,
P. Winter,
C. Zarow,
A. Zecchinelli
|
9 |
2011 |
9
🐜
|
|
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|
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
23 auth.
M. Cossée,
A. Dürr,
M. Schmitt,
N. Dahl,
P. Trouillas,
P. Allinson,
M. Kostrzewa,
A. Nivelon‐Chevallier,
K. Gustavson,
A. Kohlschütter,
...
U. Müller,
J. Mandel,
A. Brice,
M. Koenig,
F. Cavalcanti,
A. Tammaro,
G. De Michele,
A. Filla,
S. Cocozza,
M. Labuda,
L. Montermini,
J. Poirier,
M. Pandolfo
|
8 |
1999 |
8
🐜
|
|
🐢
|
Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.
8 auth.
S. Niemann,
Chengfeng Zhao,
F. Pascu,
U. Stahl,
U. Aulepp,
L. Niswander,
...
J. Weber,
U. Müller
|
8 |
2004 |
8
🐢
|
|
🐜
|
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes
14 auth.
M. Waters,
N. Minassian,
G. Stevanin,
K. Figueroa,
John P A Bannister,
D. Nolte,
A. Mock,
V. Evidente,
D. Fee,
U. Müller,
...
A. Dürr,
A. Brice,
D. Papazian,
S. Pulst
|
8 |
2006 |
8
🐜
|
|
🐜
|
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
94 auth.
Hao Hu,
S. Haas,
J. Chelly,
J. Chelly,
H. Esch,
M. Raynaud,
Apm de Brouwer,
S. Weinert,
G. Froyen,
S. Frints,
F. Laumonnier,
T. Żemojtel,
M. Love,
Hugues Richard,
Anne-Katrin Emde,
...
M. Bienek,
C. Jensen,
M. Hambrock,
U. Fischer,
Claudia Langnick,
M. Feldkamp,
W. Wissink-Lindhout,
N. Lebrun,
N. Lebrun,
L. Castelnau,
L. Castelnau,
Julien Rucci,
Julien Rucci,
R. Montjean,
R. Montjean,
O. Dorseuil,
O. Dorseuil,
P. Billuart,
P. Billuart,
T. Stuhlmann,
M. Shaw,
M. Corbett,
A. Gardner,
S. Willis-Owen,
S. Willis-Owen,
C. Tan,
K. Friend,
Stefanie Belet,
K. V. Roozendaal,
M. Jimenez-Pocquet,
M. Moizard,
N. Ronce,
Ruping Sun,
S. O’Keeffe,
R. Chenna,
A. Bömmel,
Jonathan Göke,
A. Hackett,
M. Field,
Louise Christie,
Jackie Boyle,
E. Haan,
E. Haan,
J. Nelson,
G. Turner,
G. Baynam,
G. Gillessen‐Kaesbach,
U. Müller,
D. Steinberger,
B. Budny,
M. Badura-Stronka,
A. Latos-Bieleńska,
L. B. Ousager,
P. Wieacker,
G. R. Criado,
M. Bondeson,
G. Annéren,
A. Dufke,
M. Cohen,
L. Maldergem,
C. Vincent-Delorme,
B. Echenne,
B. Simon‐Bouy,
T. Kleefstra,
M. Willemsen,
J. Fryns,
K. Devriendt,
R. Ullmann,
Martin Vingron,
K. Wrogemann,
K. Wrogemann,
T. Wienker,
A. Tzschach,
H. Bokhoven,
J. Gécz,
T. Jentsch,
Wei Chen,
H. Ropers,
V. Kalscheuer
|
8 |
2015 |
8
🐜
|
|
🐜
|
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
41 auth.
Hsien-yang Lee,
Yong Huang,
N. Bruneau,
P. Roll,
E. Roberson,
Mark Hermann,
Emily A Quinn,
J. Maas,
R. Edwards,
T. Ashizawa,
B. Baykan,
K. Bhatia,
S. Bressman,
M. Bruno,
E. Brunt,
...
R. Caraballo,
B. Echenne,
N. Fejerman,
S. Frucht,
C. Gurnett,
E. Hirsch,
H. Houlden,
J. Jankovic,
Wei-Ling Lee,
D. Lynch,
S. Mohammed,
U. Müller,
M. Nespeca,
D. Renner,
J. Rochette,
G. Rudolf,
S. Saiki,
B. Soong,
K. Swoboda,
S. Tucker,
N. Wood,
M. Hanna,
A. Bowcock,
P. Szepetowski,
Ying-Hui Fu,
L. Ptáček
|
7 |
2012 |
7
🐜
|
|
🐜
|
Association of an interleukin 1α polymorphism with Alzheimer’s disease
16 auth.
Yansheng Du,
R. Dodel,
B. Eastwood,
K. Bales,
F. Gao,
F. Lohmüller,
U. Müller,
A. Kurz,
R. Zimmer,
R. Evans,
...
A. Hake,
T. Gasser,
W. Oertel,
W. Griffin,
S. Paul,
M. Farlow
|
7 |
2000 |
7
🐜
|
|
🐜
|
Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy
54 auth.
N. Kouri,
O. Ross,
B. Dombroski,
C. Younkin,
D. Serie,
A. Soto-Ortolaza,
M. Baker,
N. Finch,
Hyejin Yoon,
Jungsu Kim,
S. Fujioka,
C. Mclean,
B. Ghetti,
S. Spina,
L. Cantwell,
...
M. Farlow,
J. Grafman,
E. Huey,
Mi Ryung Han,
Sherry Beecher,
Evan T. Geller,
H. Kretzschmar,
S. Roeber,
M. Gearing,
J. Juncos,
J. Vonsattel,
V. V. Van Deerlin,
M. Grossman,
H. Hurtig,
R. Gross,
S. Arnold,
J. Trojanowski,
V. Lee,
G. Wenning,
C. White,
G. Höglinger,
U. Müller,
B. Devlin,
L. Golbe,
J. Crook,
J. Parisi,
B. Boeve,
K. Josephs,
Z. Wszolek,
R. Uitti,
N. Graff-Radford,
I. Litvan,
S. Younkin,
Li-San Wang,
N. Ertekin-Taner,
R. Rademakers,
Hakon Hakonarsen,
G. Schellenberg,
D. Dickson
|
7 |
2015 |
7
🐜
|
|
🐜
|
Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly
45 auth.
T. Aneichyk,
William T. J. Hendriks,
Rachita Yadav,
David Shin,
Dadi Gao,
Christine A. Vaine,
Ryan L. Collins,
A. Domingo,
Benjamin Currall,
A. Stortchevoi,
Trisha J. Multhaupt-Buell,
Ellen B. Penney,
Lilian Cruz,
J. Dhakal,
H. Brand,
...
Carrie Hanscom,
Caroline Antolik,
Marisela E. Dy,
A. Ragavendran,
J. Underwood,
Stuart Cantsilieris,
Katherine M. Munson,
E. Eichler,
Patrick J. Acuña,
C. Go,
R. Jamora,
R. Rosales,
D. Church,
Stephen R. Williams,
Sarah Garcia,
C. Klein,
U. Müller,
K. Wilhelmsen,
H. Timmers,
Yechiam Sapir,
Brian J. Wainger,
Daniel Henderson,
N. Ito,
N. Weisenfeld,
D. Jaffe,
N. Sharma,
X. Breakefield,
L. Ozelius,
D. Bragg,
M. Talkowski
|
7 |
2018 |
7
🐜
|
