🐜
|
Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
18 auth.
D. Campion,
C. Dumanchin,
D. Hannequin,
B. Dubois,
S. Belliard,
M. Puel,
C. Thomas-Antérion,
A. Michon,
Cosette Martin,
F. Charbonnier,
...
G. Raux,
A. Camuzat,
C. Penet,
Valérie Mesnage,
Maria Martinez,
F. Clerget-Darpoux,
A. Brice,
T. Frebourg
|
9 |
1999 |
9 🐜
|
🐜
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Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis
17 auth.
I. Perrault,
J. Rozet,
P. Calvas,
S. Gerber,
A. Camuzat,
H. Dollfus,
S. Châtelin,
E. Souied,
I. Ghazi,
C. Leowski,
...
M. Bonnemaison,
D. Paslier,
J. Frézal,
J. Dufier,
S. Pittler,
A. Munnich,
J. Kaplan
|
8 |
1996 |
8 🐜
|
🐜
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Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.
27 auth.
I. Le Ber,
A. Camuzat,
D. Hannequin,
F. Pasquier,
E. Guedj,
A. Rovelet-Lecrux,
V. Hahn-Barma,
J. van der Zee,
F. Clot,
S. Bakchine,
M. Puel,
M. Ghanim,
L. Lacomblez,
J. Mikol,
V. Deramecourt,
...
P. Lejeune,
V. de la Sayette,
S. Belliard,
M. Vercelletto,
C. Meyrignac,
C. van Broeckhoven,
J. Lambert,
P. Verpillat,
D. Campion,
M. Habert,
B. Dubois,
A. Brice
|
8 |
2008 |
8 🐜
|
🐜
|
TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
18 auth.
Lina Benajiba,
I. Le Ber,
A. Camuzat,
M. Lacoste,
C. Thomas-Antérion,
P. Couratier,
Solenn Legallic,
F. Salachas,
D. Hannequin,
M. Decousus,
...
L. Lacomblez,
E. Guedj,
V. Golfier,
W. Camu,
B. Dubois,
D. Campion,
V. Meininger,
A. Brice
|
8 |
2009 |
8 🐜
|
🐜
|
SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations
26 auth.
S. Millecamps,
F. Salachas,
C. Cazeneuve,
P. Gordon,
B. Bricka,
A. Camuzat,
L. Guillot-nöel,
Odile Russaouen,
G. Bruneteau,
P. Pradat,
N. le Forestier,
N. Vandenberghe,
V. Danel-Brunaud,
N. Guy,
C. Thauvin-Robinet,
...
L. Lacomblez,
P. Couratier,
D. Hannequin,
D. Seilhean,
I. Le Ber,
P. Corcia,
W. Camu,
A. Brice,
G. Rouleau,
E. Leguern,
V. Meininger
|
8 |
2010 |
8 🐜
|
🐜
|
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.
13 auth.
C. Dumanchin,
A. Camuzat,
D. Campion,
Patrice Verp illat,
D. Hannequin,
Bruno D ubois,
P. Saugier-Veber,
Cosette Martin,
C. Penet,
Françoise Char bonnier,
...
Y. Agid,
Thierry Fre bourg,
A. Brice
|
7 |
1998 |
7 🐜
|
🐜
|
Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study
102 auth.
K. Moore,
Jennifer M. Nicholas,
M. Grossman,
C. Mcmillan,
D. Irwin,
L. Massimo,
V. V. Van Deerlin,
J. Warren,
Nick C Fox,
M. Rossor,
S. Mead,
M. Bocchetta,
B. Boeve,
D. Knopman,
N. Graff-Radford,
...
L. Forsberg,
R. Rademakers,
Z. Wszolek,
J. V. van Swieten,
L. Jiskoot,
L. Meeter,
E. Dopper,
J. Papma,
J. Snowden,
Jennifer A. Saxon,
Matthew Jones,
S. Pickering-Brown,
I. Le Ber,
A. Camuzat,
A. Brice,
P. Caroppo,
R. Ghidoni,
M. Pievani,
L. Benussi,
G. Binetti,
B. Dickerson,
D. Lucente,
Samantha Krivensky,
C. Graff,
Linn Öijerstedt,
M. Fallström,
H. Thonberg,
N. Ghoshal,
J. Morris,
B. Borroni,
A. Benussi,
A. Padovani,
D. Galimberti,
E. Scarpini,
G. Fumagalli,
I. Mackenzie,
G. Hsiung,
Pheth Sengdy,
A. Boxer,
H. Rosen,
Joanne B. Taylor,
M. Synofzik,
C. Wilke,
Patricia Sulzer,
J. Hodges,
G. Halliday,
J. Kwok,
Raquel Sánchez-Valle,
A. Lladó,
S. Borrego-Écija,
I. Santana,
M. R. Almeida,
M. Tábuas-Pereira,
F. Moreno,
M. Barandiaran,
B. Indakoetxea,
J. Levin,
A. Danek,
J. Rowe,
T. Cope,
M. Otto,
S. Anderl-Straub,
A. de Mendonça,
C. Maruta,
M. Masellis,
S. Black,
P. Couratier,
G. Lautrette,
E. Huey,
S. Sorbi,
B. Nacmias,
R. Laforce,
Marie-Pier L Tremblay,
R. Vandenberghe,
P. van Damme,
E. Rogalski,
S. Weintraub,
A. Gerhard,
C. Onyike,
S. Ducharme,
S. Papageorgiou,
Adeline Su Lyn,
A. Brodtmann,
E. Finger,
R. Guerreiro,
J. Bras,
J. Rohrer
|
7 |
2019 |
7 🐜
|
🐜
|
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
17 auth.
I. Le Ber,
A. Camuzat,
R. Guerreiro,
Kawtar Bouya-Ahmed,
J. Bras,
G. Nicolas,
A. Gabelle,
M. Didic,
A. D. de Septenville,
S. Millecamps,
...
T. Lenglet,
Morwena Latouche,
E. Kabashi,
D. Campion,
D. Hannequin,
J. Hardy,
A. Brice
|
7 |
2013 |
7 🐜
|
🐜
|
Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.
11 auth.
G. Stevanin,
H. Fujigasaki,
A. Lèbre,
A. Camuzat,
Cecile Jeannequin,
C. Dodé,
...
J. Takahashi,
C. San,
R. Bellance,
A. Brice,
A. Durr
|
7 |
2003 |
7 🐜
|
🐜
|
Progranulin null mutations in both sporadic and familial frontotemporal dementia
24 auth.
I. Le Ber,
J. van der Zee,
D. Hannequin,
I. Gijselinck,
D. Campion,
M. Puel,
A. Laquérriere,
Tim De Pooter,
A. Camuzat,
M. Van den Broeck,
...
B. Dubois,
F. Sellal,
L. Lacomblez,
M. Vercelletto,
C. Thomas-Antérion,
B. Michel,
V. Golfier,
M. Didic,
F. Salachas,
C. Duyckaerts,
M. Cruts,
P. Verpillat,
C. van Broeckhoven,
A. Brice
|
7 |
2007 |
7 🐜
|
🐜
|
Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia.
27 auth.
I. Le Ber,
E. Guedj,
A. Gabelle,
P. Verpillat,
M. Volteau,
C. Thomas-Antérion,
M. Decousus,
D. Hannequin,
P. Véra,
L. Lacomblez,
A. Camuzat,
M. Didic,
M. Puel,
J. Lotterie,
V. Golfier,
...
A. Bernard,
M. Vercelletto,
C. Magne,
F. Sellal,
I. Namer,
B. Michel,
J. Pasquier,
F. Salachas,
J. Bochet,
A. Brice,
M. Habert,
B. Dubois
|
7 |
2006 |
7 🐜
|