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🐢
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Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
28 auth.
M. Dejesus‐Hernandez,
I. Mackenzie,
B. Boeve,
A. Boxer,
M. Baker,
Nicola J. Rutherford,
Alexandra M. Nicholson,
N. Finch,
H. Flynn,
J. Adamson,
N. Kouri,
Aleksandra M. Wojtas,
Pheth Sengdy,
G. Hsiung,
A. Karydas,
...
W. Seeley,
K. Josephs,
G. Coppola,
D. Geschwind,
Z. Wszolek,
H. Feldman,
D. Knopman,
R. Petersen,
B. Miller,
D. Dickson,
K. Boylan,
N. Graff-Radford,
R. Rademakers
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12 |
2011 |
12
🐢
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|
🐜
|
TREM2 variants in Alzheimer's disease.
24 auth.
R. Guerreiro,
Aleksandra M. Wojtas,
J. Bras,
M. Carrasquillo,
E. Rogaeva,
E. Majounie,
Carlos Cruchaga,
C. Sassi,
J. Kauwe,
S. Younkin,
...
L. Hazrati,
J. Collinge,
J. Pocock,
T. Lashley,
Julie Williams,
J. Lambert,
P. Amouyel,
A. Goate,
R. Rademakers,
K. Morgan,
J. Powell,
P. S. St George-Hyslop,
A. Singleton,
J. Hardy
|
11 |
2013 |
11
🐜
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|
🐜
|
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
27 auth.
M. Baker,
I. Mackenzie,
S. Pickering-Brown,
J. Gass,
R. Rademakers,
C. Lindholm,
J. Snowden,
J. Adamson,
A. Sadovnick,
S. Rollinson,
A. Cannon,
E. Dwosh,
D. Neary,
S. Melquist,
A. Richardson,
...
Dennis W. Dickson,
Z. Berger,
J. Eriksen,
Todd Robinson,
C. Zehr,
C. Dickey,
R. Crook,
E. McGowan,
D. Mann,
B. Boeve,
H. Feldman,
M. Hutton
|
10 |
2006 |
10
🐜
|
|
🐜
|
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
22 auth.
M. Cruts,
I. Gijselinck,
J. Zee,
S. Engelborghs,
H. Wils,
D. Pirici,
R. Rademakers,
R. Vandenberghe,
B. Dermaut,
Jean-Jacques Martin,
...
C. Duijn,
K. Peeters,
R. Sciot,
P. Santens,
T. D. Pooter,
Maria Mattheijssens,
M. Broeck,
Ivy Cuijt,
K. Vennekens,
P. Deyn,
S. Kumar-Singh,
C. Broeckhoven
|
10 |
2006 |
10
🐜
|
|
🐜
|
Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS
37 auth.
Hong-Joo Kim,
Nam Chul Kim,
Yong-Dong Wang,
Emily A. Scarborough,
Jennifer Moore,
Zamia Diaz,
K. MacLea,
Brian D. Freibaum,
Songqing Li,
A. Molliex,
A. Kanagaraj,
R. Carter,
K. Boylan,
Aleksandra M. Wojtas,
R. Rademakers,
...
J. Pinkus,
S. Greenberg,
J. Trojanowski,
B. Traynor,
Bradley N. Smith,
S. Topp,
A. Gkazi,
Jack W. Miller,
C. Shaw,
M. Kottlors,
J. Kirschner,
A. Pestronk,
Yun R Li,
A. F. Ford,
A. Gitler,
M. Benatar,
O. King,
V. Kimonis,
E. D. Ross,
C. Weihl,
J. Shorter,
J. Taylor
|
10 |
2013 |
10
🐜
|
|
🐜
|
Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS
13 auth.
Peter E. A. Ash,
Kevin F Bieniek,
Tania F. Gendron,
T. Caulfield,
Wen‐lang Lin,
M. Dejesus‐Hernandez,
M. Blitterswijk,
Karen R. Jansen-West,
Joseph W Paul,
R. Rademakers,
...
K. Boylan,
D. Dickson,
L. Petrucelli
|
10 |
2013 |
10
🐜
|
|
🐜
|
Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report
36 auth.
P. Nelson,
D. Dickson,
J. Trojanowski,
C. Jack,
P. Boyle,
K. Arfanakis,
K. Arfanakis,
R. Rademakers,
I. Alafuzoff,
J. Attems,
C. Brayne,
Ian T S Coyle-Gilchrist,
H. Chui,
D. Fardo,
M. Flanagan,
...
G. Halliday,
Suvi R K Hokkanen,
S. Hunter,
G. Jicha,
Y. Katsumata,
C. Kawas,
C. Keene,
G. Kovacs,
W. Kukull,
A. Levey,
Nazanin Makkinejad,
T. Montine,
S. Murayama,
M. Murray,
S. Nag,
R. Rissman,
W. Seeley,
R. Sperling,
C. White,
Lei Yu,
J. Schneider
|
9 |
2019 |
9
🐜
|
|
🐬
|
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
I. Mackenzie,
R. Rademakers,
M. Neumann
|
9 |
2010 |
9
🐬
|
|
🐬
|
A new subtype of frontotemporal lobar degeneration with FUS pathology.
M. Neumann,
R. Rademakers,
S. Roeber,
M. Baker,
H. Kretzschmar,
I. Mackenzie
|
9 |
2009 |
9
🐬
|
|
🐜
|
TDP‐43 A315T mutation in familial motor neuron disease
17 auth.
M. Gitcho,
R. Baloh,
S. Chakraverty,
K. Mayo,
J. Norton,
D. Levitch,
K. Hatanpaa,
C. White,
E. Bigio,
R. Caselli,
...
M. Baker,
M. Al-Lozi,
J. Morris,
A. Pestronk,
R. Rademakers,
A. Goate,
N. Cairns
|
9 |
2008 |
9
🐜
|
|
🐜
|
Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation
28 auth.
Hansen Lui,
Jiasheng Zhang,
S. Makinson,
Michelle K. Cahill,
Kevin W. Kelley,
Hsin-Yi Huang,
Yulei Shang,
M. Oldham,
L. H. Martens,
Fuying Gao,
G. Coppola,
S. Sloan,
Christine L. Hsieh,
Charles C. Kim,
E. Bigio,
...
S. Weintraub,
M. Mesulam,
R. Rademakers,
I. Mackenzie,
W. Seeley,
A. Karydas,
B. Miller,
B. Borroni,
R. Ghidoni,
Robert V Farese,
J. Paz,
B. Barres,
E. Huang
|
9 |
2016 |
9
🐜
|
|
🐢
|
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.
30 auth.
J. Gass,
A. Cannon,
I. Mackenzie,
B. Boeve,
M. Baker,
J. Adamson,
R. Crook,
S. Melquist,
K. Kuntz,
Ron C. Petersen,
K. Josephs,
S. Pickering-Brown,
N. Graff-Radford,
R. Uitti,
D. Dickson,
...
Z. Wszolek,
John Gonzalez,
T. Beach,
E. Bigio,
N. Johnson,
S. Weintraub,
M. Mesulam,
C. White,
B. Woodruff,
R. Caselli,
G. Hsiung,
H. Feldman,
D. Knopman,
M. Hutton,
R. Rademakers
|
9 |
2006 |
9
🐢
|
|
🐜
|
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
🐜
|
|
🐜
|
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
100 auth.
V. V. Van Deerlin,
P. Sleiman,
M. Martinez-Lage,
A. Chen-Plotkin,
Li-San Wang,
N. Graff-Radford,
D. Dickson,
R. Rademakers,
B. Boeve,
M. Grossman,
S. Arnold,
D. Mann,
S. Pickering-Brown,
H. Seelaar,
P. Heutink,
...
J. V. van Swieten,
J. Murrell,
B. Ghetti,
S. Spina,
J. Grafman,
J. Hodges,
M. Spillantini,
S. Gilman,
A. Lieberman,
J. Kaye,
R. Woltjer,
E. Bigio,
M. Mesulam,
S. Al-Sarraj,
C. Troakes,
R. Rosenberg,
C. White,
I. Ferrer,
A. Lladó,
M. Neumann,
H. Kretzschmar,
C. Hulette,
K. Welsh-Bohmer,
B. Miller,
A. Alzualde,
A. L. de Munain,
A. Mckee,
M. Gearing,
A. Levey,
J. Lah,
J. Hardy,
J. Rohrer,
T. Lashley,
I. Mackenzie,
H. Feldman,
R. Hamilton,
S. DeKosky,
J. van der Zee,
S. Kumar-Singh,
C. van Broeckhoven,
R. Mayeux,
J. Vonsattel,
J. Troncoso,
J. Kril,
J. Kwok,
G. Halliday,
T. Bird,
P. Ince,
P. Shaw,
N. Cairns,
J. Morris,
C. Mclean,
C. DeCarli,
W. Ellis,
Stefanie H. Freeman,
M. Frosch,
J. Growdon,
D. Perl,
M. Sano,
D. Bennett,
J. Schneider,
T. Beach,
E. Reiman,
B. Woodruff,
J. Cummings,
H. Vinters,
C. Miller,
H. Chui,
I. Alafuzoff,
P. Hartikainen,
D. Seilhean,
D. Galasko,
E. Masliah,
C. Cotman,
M. Tuñón,
M. J. Fresnadillo Martínez,
D. Munoz,
S. Carroll,
D. Marson,
P. Riederer,
N. Bogdanovic,
G. Schellenberg,
H. Hakonarson,
J. Trojanowski,
V. Lee
|
9 |
2010 |
9
🐜
|
