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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
|
12 |
2011 |
12
🦁
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🐜
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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
🐜
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🐜
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Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids
38 auth.
R. Rademakers,
M. Baker,
Alexandra M. Nicholson,
Nicola J. Rutherford,
N. Finch,
A. Soto-Ortolaza,
Jennifer Lash,
C. Wider,
Aleksandra M. Wojtas,
M. Dejesus‐Hernandez,
J. Adamson,
N. Kouri,
C. Sundal,
E. Shuster,
J. Aasly,
...
J. Mackenzie,
S. Roeber,
H. Kretzschmar,
B. Boeve,
D. Knopman,
R. Petersen,
N. Cairns,
B. Ghetti,
S. Spina,
J. Garbern,
A. Tselis,
R. Uitti,
Pritam Das,
J. V. van Gerpen,
J. Meschia,
S. Levy,
D. Broderick,
N. Graff-Radford,
O. Ross,
B. Miller,
R. Swerdlow,
D. Dickson,
Z. Wszolek
|
8 |
2011 |
8
🐜
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🐜
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Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics
16 auth.
J. Whitwell,
S. Weigand,
B. Boeve,
M. Senjem,
J. Gunter,
M. Dejesus‐Hernandez,
Nicola J. Rutherford,
M. Baker,
D. Knopman,
Z. Wszolek,
...
J. Parisi,
D. Dickson,
R. Petersen,
R. Rademakers,
C. Jack,
K. Josephs
|
8 |
2012 |
8
🐜
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|
🐜
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A yeast functional screen predicts new candidate ALS disease genes
41 auth.
Julien Couthouis,
M. Hart,
J. Shorter,
M. Dejesus‐Hernandez,
R. Erion,
Rachel Oristano,
Annie Liu,
D. Ramos,
N. Jethava,
D. Hosangadi,
J. Epstein,
Ashley Chiang,
Zamia Diaz,
T. Nakaya,
Fadia Ibrahim,
...
Hyung-Jun Kim,
Jennifer A. Solski,
K. Williams,
J. Mojsilovic-Petrovic,
Caroline Ingre,
K. Boylan,
N. Graff-Radford,
D. Dickson,
Dana Clay-Falcone,
L. Elman,
L. McCluskey,
Robert Greene,
R. Kalb,
V. Lee,
J. Trojanowski,
A. Ludolph,
W. Robberecht,
P. Andersen,
G. Nicholson,
I. Blair,
O. King,
N. Bonini,
V. V. Van Deerlin,
R. Rademakers,
Z. Mourelatos,
A. Gitler
|
8 |
2011 |
8
🐜
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🐜
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Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72
33 auth.
B. Boeve,
K. Boylan,
N. Graff-Radford,
M. Dejesus‐Hernandez,
D. Knopman,
Otto Pedraza,
P. Vemuri,
David T. Jones,
V. Lowe,
M. Murray,
D. Dickson,
K. Josephs,
B. Rush,
M. Machulda,
J. Fields,
...
T. Ferman,
M. Baker,
Nicola J. Rutherford,
J. Adamson,
Z. Wszolek,
Anahita Adeli,
R. Savica,
B. Boot,
K. Kuntz,
R. Gavrilova,
Andrew Reeves,
J. Whitwell,
K. Kantarci,
C. Jack,
J. Parisi,
J. Lucas,
R. Petersen,
R. Rademakers
|
8 |
2012 |
8
🐜
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|
🐜
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Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72
12 auth.
M. Murray,
M. Dejesus‐Hernandez,
Nicola J. Rutherford,
M. Baker,
R. Duara,
N. Graff-Radford,
...
Z. Wszolek,
T. Ferman,
K. Josephs,
K. Boylan,
R. Rademakers,
D. Dickson
|
8 |
2011 |
8
🐜
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|
🐜
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FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations.
16 auth.
M. Neumann,
Eva Bentmann,
D. Dormann,
A. Jawaid,
M. Dejesus‐Hernandez,
O. Ansorge,
S. Roeber,
H. Kretzschmar,
D. Munoz,
H. Kusaka,
...
O. Yokota,
L. Ang,
J. Bilbao,
R. Rademakers,
C. Haass,
I. Mackenzie
|
8 |
2011 |
8
🐜
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🐜
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Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study
21 auth.
M. Blitterswijk,
M. Dejesus‐Hernandez,
E. Niemantsverdriet,
M. Murray,
M. Heckman,
N. Diehl,
Patricia H. Brown,
M. Baker,
N. Finch,
P. Bauer,
...
G. Serrano,
T. Beach,
K. Josephs,
D. Knopman,
R. Petersen,
B. Boeve,
N. Graff-Radford,
K. Boylan,
L. Petrucelli,
D. Dickson,
R. Rademakers
|
7 |
2013 |
7
🐜
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|
🐜
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TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers
41 auth.
N. Finch,
M. Carrasquillo,
M. Baker,
Nicola J. Rutherford,
G. Coppola,
M. Dejesus‐Hernandez,
R. Crook,
Talisha A. Hunter,
R. Ghidoni,
L. Benussi,
J. Crook,
E. Finger,
K. J. Hantanpaa,
A. Karydas,
A. Karydas,
...
Pheth Sengdy,
John Gonzalez,
W. Seeley,
N. Johnson,
T. Beach,
M. Mesulam,
G. Forloni,
A. Kertesz,
D. Knopman,
R. Uitti,
C. White,
R. Caselli,
C. Lippa,
E. Bigio,
E. Bigio,
Z. Wszolek,
G. Binetti,
I. Mackenzie,
B. Miller,
B. Boeve,
S. Younkin,
D. Dickson,
R. C. Petersen,
N. Graff-Radford,
D. Geschwind,
R. Rademakers
|
7 |
2010 |
7
🐜
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🐜
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Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.
13 auth.
G. Hsiung,
M. Dejesus‐Hernandez,
H. Feldman,
Pheth Sengdy,
Phoenix Bouchard-Kerr,
E. Dwosh,
R. Butler,
Bonnie Leung,
Alice C. Fok,
Nicola J. Rutherford,
...
M. Baker,
R. Rademakers,
I. Mackenzie
|
7 |
2012 |
7
🐜
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|
🐜
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Frontotemporal dementia due to C9ORF72 mutations
18 auth.
S. Sha,
Leonel T. Takada,
K. Rankin,
Jennifer S. Yokoyama,
Nicola J. Rutherford,
Jamie C. Fong,
Baber K. Khan,
A. Karydas,
M. Baker,
M. Dejesus‐Hernandez,
...
Mochtar Pribadi,
G. Coppola,
D. Geschwind,
R. Rademakers,
Suzee E Lee,
W. Seeley,
B. Miller,
A. Boxer
|
7 |
2012 |
7
🐜
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|
🐬
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How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?
M. van Blitterswijk,
M. Dejesus‐Hernandez,
R. Rademakers
|
7 |
2012 |
7
🐬
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