|
🐜
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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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TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics
42 auth.
I. Mackenzie,
Alexandra M. Nicholson,
Mohona Sarkar,
James Messing,
M. Purice,
Cyril Pottier,
Kavya Annu,
M. Baker,
R. B. Perkerson,
Aishe Kurti,
Billie J. Matchett,
Tanja Mittag,
Jamshid Temirov,
G. Hsiung,
C. Krieger,
...
M. Murray,
M. Kato,
J. Fryer,
L. Petrucelli,
L. Zinman,
S. Weintraub,
M. Mesulam,
J. Keith,
S. Zivkovic,
Veronica Hirsch-Reinshagen,
R. Roos,
S. Züchner,
N. Graff-Radford,
R. Petersen,
R. Caselli,
Z. Wszolek,
E. Finger,
C. Lippa,
D. Lacomis,
H. Stewart,
D. Dickson,
Hong-Joo Kim,
E. Rogaeva,
E. Bigio,
K. Boylan,
J. Taylor,
R. Rademakers
|
8 |
2017 |
8
🐜
|
|
🐜
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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
🐜
|
|
🐜
|
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease
23 auth.
Cyril Pottier,
Kevin F Bieniek,
N. Finch,
M. Vorst,
M. Baker,
Ralph Perkersen,
Patricia H. Brown,
Thomas A. Ravenscroft,
M. Blitterswijk,
Alexandra M. Nicholson,
...
M. DeTure,
D. Knopman,
K. Josephs,
J. Parisi,
R. Petersen,
K. Boylan,
B. Boeve,
N. Graff-Radford,
J. Veltman,
C. Gilissen,
M. Murray,
D. Dickson,
R. Rademakers
|
8 |
2015 |
8
🐜
|
|
🦁
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CSF1R mutations link POLD and HDLS as a single disease entity
13 auth.
Alexandra M. Nicholson,
M. Baker,
N. Finch,
Nicola J. Rutherford,
C. Wider,
C. Wider,
N. Graff-Radford,
P. Nelson,
H. Clark,
Z. Wszolek,
...
D. Dickson,
D. Knopman,
R. Rademakers
|
7 |
2013 |
7
🦁
|
|
🐜
|
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia
39 auth.
M. van Blitterswijk,
Bianca Mullen,
Alexandra M. Nicholson,
Kevin F Bieniek,
M. Heckman,
M. Baker,
M. Dejesus‐Hernandez,
N. Finch,
Patricia H. Brown,
M. Murray,
G. Hsiung,
H. Stewart,
A. Karydas,
E. Finger,
A. Kertesz,
...
E. Bigio,
S. Weintraub,
M. Mesulam,
K. Hatanpaa,
C. White III,
M. Strong,
T. Beach,
Z. Wszolek,
C. Lippa,
R. Caselli,
L. Petrucelli,
K. Josephs,
J. Parisi,
D. Knopman,
R. Petersen,
I. Mackenzie,
W. Seeley,
L. Grinberg,
B. Miller,
K. Boylan,
N. Graff-Radford,
B. Boeve,
D. Dickson,
R. Rademakers
|
7 |
2014 |
7
🐜
|
|
🐜
|
Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma.
19 auth.
M. Carrasquillo,
Alexandra M. Nicholson,
N. Finch,
J. Gibbs,
M. Baker,
Nicola J. Rutherford,
Talisha A. Hunter,
M. Dejesus‐Hernandez,
G. Bisceglio,
I. R. Mackenzie,
...
A. Singleton,
M. Cookson,
J. Crook,
Allissa Dillman,
Dena G. Hernandez,
Ronald C. Petersen,
N. Graff-Radford,
Steven G. Younkin,
R. Rademakers
|
7 |
2010 |
7
🐜
|
|
🦁
|
Increased Membrane Cholesterol Might Render Mature Hippocampal Neurons More Susceptible to β-Amyloid-Induced Calpain Activation and Tau Toxicity
Alexandra M. Nicholson,
Adriana Ferreira
|
6 |
2009 |
6
🦁
|
|
🐜
|
MRI characteristics and scoring in HDLS due to CSF1R gene mutations
24 auth.
C. Sundal,
J. V. van Gerpen,
Alexandra M. Nicholson,
C. Wider,
E. Shuster,
J. Aasly,
S. Spina,
B. Ghetti,
S. Roeber,
J. Garbern,
...
A. Borjesson‐Hanson,
A. Tselis,
R. Swerdlow,
B. Miller,
S. Fujioka,
M. Heckman,
R. Uitti,
K. Josephs,
M. Baker,
O. Andersen,
R. Rademakers,
D. Dickson,
D. Broderick,
Z. Wszolek
|
6 |
2012 |
6
🐜
|
|
🦁
|
What we know about TMEM106B in neurodegeneration
Alexandra M. Nicholson,
R. Rademakers
|
6 |
2016 |
6
🦁
|
|
🦁
|
Prosaposin is a regulator of progranulin levels and oligomerization
40 auth.
Alexandra M. Nicholson,
N. Finch,
M. Almeida,
R. B. Perkerson,
M. van Blitterswijk,
Aleksandra M. Wojtas,
B. Cenik,
S. Rotondo,
Venette Inskeep,
L. Almasy,
T. Dyer,
J. Peralta,
G. Jun,
A. Wood,
T. Frayling,
...
C. Fuchsberger,
Sharon P Fowler,
Tanya M. Teslovich,
A. Manning,
Satish Kumar,
J. Curran,
D. Lehman,
G. Abecasis,
R. Duggirala,
Cyril Pottier,
Haaris A Zahir,
J. Crook,
A. Karydas,
Laura Mitic,
Ying Sun,
D. Dickson,
G. Bu,
J. Herz,
Gang Yu,
B. Miller,
S. Ferguson,
R. Petersen,
N. Graff-Radford,
J. Blangero,
R. Rademakers
|
6 |
2016 |
6
🦁
|
|
🦁
|
Progranulin protein levels are differently regulated in plasma and CSF
11 auth.
Alexandra M. Nicholson,
N. Finch,
Colleen S. Thomas,
Aleksandra M. Wojtas,
Nicola J. Rutherford,
M. Mielke,
...
R. Roberts,
B. Boeve,
D. Knopman,
R. Petersen,
R. Rademakers
|
6 |
2014 |
6
🦁
|
