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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
62 auth.
V. Chelban,
Henriette Aksnes,
R. Maroofian,
Lauren C. LaMonica,
L. Seabra,
Anette Siggervåg,
P. Devic,
H. Shamseldin,
J. Vandrovcova,
D. Murphy,
A. Richard,
O. Quenez,
Antoine Bonnevalle,
M. N. Zanetti,
R. Kaiyrzhanov,
...
Vincenzo Salpietro,
S. Efthymiou,
L. Schottlaender,
Heba Morsy,
A. Scardamaglia,
Ambreen Tariq,
A. Pagnamenta,
Ajia Pennavaria,
Liv S Krogstad,
Å. K. Bekkelund,
Alessia Caiella,
Nina Glomnes,
Kirsten Brønstad,
Sandrine Tury,
Andrés Moreno De Luca,
A. Boland-Augé,
R. Olaso,
J. Deleuze,
Mathieu Anheim,
B. Cretin,
B. Vona,
Fahad Alajlan,
F. Abdulwahab,
J. Battini,
Rojan İpek,
P. Bauer,
Giovanni Zifarelli,
Serdal Gungor,
S. Kurul,
Hanns Lochmuller,
S. Da'as,
Khalid A. Fakhro,
A. Gómez-Pascual,
J. Botía,
Nicholas W. Wood,
R. Horváth,
Andreas M. Ernst,
James E. Rothman,
MERIEL E Mcentagart,
Yanick J. Crow,
F. Alkuraya,
G. Nicolas,
Henry Fowzan S. Houlden Alkuraya,
H. Houlden,
F. Alkuraya,
T. Arnesen,
H. Houlden
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3 |
2024 |
3
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Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers
28 auth.
D. Wallon,
S. Boluda,
A. Rovelet-Lecrux,
Manon Thierry,
J. Lagarde,
Laetitia Miguel,
M. Lecourtois,
Antoine Bonnevalle,
M. Sarazin,
M. Bottlaender,
Mathieu Mula,
S. Marty,
Natsuko Nakamura,
C. Schramm,
F. Sellal,
...
T. Jonveaux,
C. Heitz,
I. Le Ber,
S. Epelbaum,
E. Magnin,
A. Zaréa,
S. Rousseau,
O. Quenez,
D. Hannequin,
F. Clavaguera,
D. Campion,
C. Duyckaerts,
G. Nicolas
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3 |
2021 |
3
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Confirmation and further delineation of the SMG9‐deficiency syndrome, a rare and severe developmental disorder
20 auth.
F. Lecoquierre,
Antoine Bonnevalle,
A. Chadie,
C. Gayet,
C. Dumant-Forest,
M. Renaux-Petel,
J. Leca,
T. Hazelzet,
M. Brasseur-Daudruy,
F. Louillet,
...
M. Muraine,
S. Coutant,
O. Quenez,
A. Boland,
J. Deleuze,
T. Frebourg,
A. Goldenberg,
P. Saugier-Veber,
A. Guerrot,
G. Nicolas
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3 |
2019 |
3
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Assessment of Mendelian and risk factor genes in Alzheimer disease: a prospective nationwide clinical utility study and recommendations for genetic screening.
118 auth.
G. Nicolas,
A. Zaréa,
Morgane Lacour,
O. Quenez,
S. Rousseau,
A. Richard,
Antoine Bonnevalle,
C. Schramm,
R. Olaso,
Florian Sandron,
A. Boland,
J. Deleuze,
D. Andriuta,
Pierre Anthony,
S. Auriacombe,
...
Anna-Chloé Balageas,
Guillaume Ballan,
M. Barbay,
Yannick Béjot,
S. Belliard,
M. Benaiteau,
K. Bennys,
S. Bombois,
C. Boutoleau-Bretonnière,
P. Branger,
Jasmine Carlier,
L. Cartz-Piver,
P. Cassagnaud,
Mathieu Ceccaldi,
Valérie Chauviré,
Yaohua Chen,
J. Cogez,
E. Cognat,
Fabienne Contégal-Callier,
Lea Corneille,
P. Couratier,
B. Cretin,
C. Crinquette,
B. Dauriat,
Sophie Dautricourt,
V. de la Sayette,
A. De liège,
Didier Deffond,
F. Démurger,
V. Deramecourt,
C. Derollez,
E. Dionet,
M. Doco Fenzy,
J. Dumurgier,
A. Dutray,
F. Etcharry-Bouyx,
M. Formaglio,
A. Gabelle,
A. Gainche-Salmon,
Olivier Godefroy,
M. Graber,
Chloé Grégoire,
Stéphane Grimaldi,
J. Guéniat,
C. Guériot,
Virginie Guillet-Pichon,
Sophie Haffen,
Cezara Hanta,
Clémence Hardy,
G. Hautecloque,
C. Heitz,
C. Hourrègue,
T. Jonveaux,
S. Jurici,
L. Koric,
P. Krolak-Salmon,
J. Lagarde,
Hélène-Marie Lanoiselée,
B. Laurens,
I. Le Ber,
G. Le Guyader,
A. Leblanc,
T. Lebouvier,
Richard Levy,
A. Lippi,
M. Mackowiak,
E. Magnin,
C. Marelli,
O. Martinaud,
A. Maureille,
R. Migliaccio,
E. Milongo-Rigal,
Sophie Mohr,
H. Mollion,
Alexandre Morin,
J. Nivelle,
Camille Noiray,
P. Olivieri,
C. Paquet,
Jeremie Pariente,
F. Pasquier,
Alexandre Perron,
N. Philippi,
V. Planche,
Hélène Pouclet-Courtemanche,
M. Rafiq,
A. Rollin-Sillaire,
Carole Roué-Jagot,
D. Saracino,
Marie Sarazin,
M. Sauvée,
F. Sellal,
M. Teichmann,
C. Thauvin,
Q. Thomas,
Camille Tisserand,
C. Turpinat,
L. van Damme,
Olivier Vercruysse,
Nicolas Villain,
Nathalie Wagemann,
C. Charbonnier,
D. Wallon
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2 |
2024 |
2
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An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency
10 auth.
Nassim Boutouchent,
Julie Bourilhon,
Bénédicte Sudrié-Arnaud,
Antoine Bonnevalle,
L. Guyant‐Maréchal,
C. Acquaviva,
...
Loréna Dujardin-Ippolito,
S. Bekri,
I. Dabaj,
A. Tebani
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1 |
2021 |
1
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