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2021 | 2 |
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Page 1
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0.
Nat Commun. 2024.
PMID: 38480682
Free PMC article.
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Nicolas G, Zaréa A, Lacour M, Quenez O, Rousseau S, Richard AC, Bonnevalle A, Schramm C, Olaso R, Sandron F, Boland A, Deleuze JF, Andriuta D, Anthony P, Auriacombe S, Balageas AC, Ballan G, Barbay M, Béjot Y, Belliard S, Benaiteau M, Bennys K, Bombois S, Boutoleau-Bretonnière C, Branger P, Carlier J, Cartz-Piver L, Cassagnaud P, Ceccaldi MP, Chauviré V, Chen Y, Cogez J, Cognat E, Contegal-Callier F, Corneille L, Couratier P, Cretin B, Crinquette C, Dauriat B, Dautricourt S, de la Sayette V, de Liège A, Deffond D, Demurger F, Deramecourt V, Derollez C, Dionet E, Doco Fenzy M, Dumurgier J, Dutray A, Etcharry-Bouyx F, Formaglio M, Gabelle A, Gainche-Salmon A, Godefroy O, Graber M, Gregoire C, Grimaldi S, Gueniat J, Gueriot C, Guillet-Pichon V, Haffen S, Hanta CR, Hardy C, Hautecloque G, Heitz C, Hourregue C, Jonveaux T, Jurici S, Koric L, Krolak-Salmon P, Lagarde J, Lanoiselée HM, Laurens B, Le Ber I, Le Guyader G, Leblanc A, Lebouvier T, Levy R, Lippi A, Mackowiak MA, Magnin E, Marelli C, Martinaud O, Maureille A, Migliaccio R, Milongo-Rigal E, Mohr S, Mollion H, Morin A, Nivelle J, Noiray C, Olivieri P, Paquet C, Pariente J, Pasquier F, Perron A, Philippi N, Planche V, Pouc…
See abstract for full author list ➔
Nicolas G, et al. Among authors: bonnevalle a.
Genet Med. 2024 May;26(5):101082. doi: 10.1016/j.gim.2024.101082. Epub 2024 Jan 24.
Genet Med. 2024.
PMID: 38281098
Free article.
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Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers.
Wallon D, Boluda S, Rovelet-Lecrux A, Thierry M, Lagarde J, Miguel L, Lecourtois M, Bonnevalle A, Sarazin M, Bottlaender M, Mula M, Marty S, Nakamura N, Schramm C, Sellal F, Jonveaux T, Heitz C, Le Ber I, Epelbaum S, Magnin E, Zarea A, Rousseau S, Quenez O, Hannequin D, Clavaguera F, Campion D, Duyckaerts C, Nicolas G.
Wallon D, et al. Among authors: bonnevalle a.
Acta Neuropathol. 2021 Aug;142(2):259-278. doi: 10.1007/s00401-021-02320-4. Epub 2021 Jun 6.
Acta Neuropathol. 2021.
PMID: 34095977
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Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.
Lecoquierre F, Bonnevalle A, Chadie A, Gayet C, Dumant-Forest C, Renaux-Petel M, Leca JB, Hazelzet T, Brasseur-Daudruy M, Louillet F, Muraine M, Coutant S, Quenez O, Boland A, Deleuze JF, Frebourg T, Goldenberg A, Saugier-Veber P, Guerrot AM, Nicolas G.
Lecoquierre F, et al. Among authors: bonnevalle a.
Am J Med Genet A. 2019 Nov;179(11):2257-2262. doi: 10.1002/ajmg.a.61317. Epub 2019 Aug 7.
Am J Med Genet A. 2019.
PMID: 31390136
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Upstream open reading frame-introducing variants in patients with primary familial brain calcification.
Rovelet-Lecrux A, Bonnevalle A, Quenez O, Delcroix W, Cassinari K, Richard AC, Boland A, Deleuze JF, Goizet C, Rucar A, Verny C, Nguyen K, Lecourtois M, Nicolas G.
Rovelet-Lecrux A, et al. Among authors: bonnevalle a.
Eur J Hum Genet. 2024 Mar 4. doi: 10.1038/s41431-024-01580-4. Online ahead of print.
Eur J Hum Genet. 2024.
PMID: 38433263
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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.
Boutouchent N, Bourilhon J, Sudrié-Arnaud B, Bonnevalle A, Guyant-Maréchal L, Acquaviva C, Dujardin-Ippolito L, Bekri S, Dabaj I, Tebani A.
Boutouchent N, et al. Among authors: bonnevalle a.
Diagnostics (Basel). 2021 Aug 28;11(9):1561. doi: 10.3390/diagnostics11091561.
Diagnostics (Basel). 2021.
PMID: 34573903
Free PMC article.
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