Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Autor: Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden

Publikováno v: Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)

Abstract Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to varian

Externí odkaz: https://doaj.org/article/1b66ac89bf354c83adcf4b0c6dc91661

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening

Autor: Nicolas, Gaël, Zaréa, Aline, Lacour, Morgane, Quenez, Olivier, Rousseau, Stéphane, Richard, Anne-Claire, Bonnevalle, Antoine, Schramm, Catherine, Olaso, Robert, Sandron, Florian, Boland, Anne, Deleuze, Jean-François, Andriuta, Daniela, Anthony, Pierre, Auriacombe, Sophie, Balageas, Anna-Chloé, Ballan, Guillaume, Barbay, Mélanie, Béjot, Yannick, Belliard, Serge, Benaiteau, Marie, Bennys, Karim, Bombois, Stéphanie, Boutoleau-Bretonnière, Claire, Branger, Pierre, Carlier, Jasmine, Cartz-Piver, Leslie, Cassagnaud, Pascaline, Ceccaldi, Mathieu-Pierre, Chauviré, Valérie, Chen, Yaohua, Cogez, Julien, Cognat, Emmanuel, Contegal-Callier, Fabienne, Corneille, Léa, Couratier, Philippe, Cretin, Benjamin, Crinquette, Charlotte, Dauriat, Benjamin, Dautricourt, Sophie, de la Sayette, Vincent, de Liège, Astrid, Deffond, Didier, Demurger, Florence, Deramecourt, Vincent, Derollez, Céline, Dionet, Elsa, Doco Fenzy, Martine, Dumurgier, Julien, Dutray, Anaïs, Etcharry-Bouyx, Frédérique, Formaglio, Maïté, Gabelle, Audrey, Gainche-Salmon, Anne, Godefroy, Olivier, Graber, Mathilde, Gregoire, Chloé, Grimaldi, Stephan, Gueniat, Julien, Gueriot, Claude, Guillet-Pichon, Virginie, Haffen, Sophie, Hanta, Cezara-Roxana, Hardy, Clémence, Hautecloque, Geoffroy, Heitz, Camille, Hourregue, Claire, Jonveaux, Thérèse, Jurici, Snejana, Koric, Lejla, Krolak-Salmon, Pierre, Lagarde, Julien, Lanoiselée, Hélène-Marie, Laurens, Brice, Le Ber, Isabelle, Le Guyader, Gwenaël, Leblanc, Amélie, Lebouvier, Thibaud, Levy, Richard, Lippi, Anaïs, Mackowiak, Marie-Anne, Magnin, Eloi, Marelli, Cecilia, Martinaud, Olivier, Maureille, Aurelien, Migliaccio, Raffaella, Milongo-Rigal, Emilie, Mohr, Sophie, Mollion, Hélène, Morin, Alexandre, Nivelle, Julia, Noiray, Camille, Olivieri, Pauline, Paquet, Claire, Pariente, Jérémie, Pasquier, Florence, Perron, Alexandre, Philippi, Nathalie, Planche, Vincent, Pouclet-Courtemanche, Hélène, Rafiq, Marie, Rollin-Sillaire, Adeline, Roué-Jagot, Carole, Saracino, Dario, Sarazin, Marie, Sauvée, Mathilde, Sellal, François, Teichmann, Marc, Thauvin, Christel, Thomas, Quentin, Tisserand, Camille, Turpinat, Cédric, Van Damme, Laurène, Vercruysse, Olivier, Villain, Nicolas, Wagemann, Nathalie, Charbonnier, Camille, Wallon, David

Publikováno v: In Genetics in Medicine May 2024 26(5)

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Porous Ceramic Sternal Prosthesis Implantation in a 13-Year-Old Patient Presenting with Metastatic Ewing's Sarcoma

Autor: Nicolas Mainard, Dyuti Sharma, Damien Fron, Aurélie Mezel, Federico Canavese, Michel Bonnevalle, Eric Nectoux

Publikováno v: European Journal of Pediatric Surgery Reports, Vol 10, Iss 01, Pp e1-e5 (2022)

Ewing's sarcoma is the second most frequent primary malignant bone tumor in adolescents and young adults. Locations on the thoracic wall represent up to 20% of primary and secondary locations. We present the case of a 13-year-old patient treated with

Externí odkaz: https://doaj.org/article/2421c0d296dd47c1a8ff49f62f01cef4

Criminal law at Aruban scale

Autor: Ruth Bonnevalle-Kok, Frans Koenraadt, Emile Kolthoff, Geert Pesselse, Evert Stamhuis

Publikováno v: Bonnevalle-Kok, R, Koenraadt, F, Kolthoff, E, Pesselse, G & Stamhuis, E 2022, ' Strafrecht op Arubaanse maat ', Proces: tijdschrift voor strafrechtpleging, vol. 101, no. 5/6, pp. 322-332 . https://doi.org/10.5553/PROCES/016500762022101005009
Proces: tijdschrift voor strafrechtpleging, 101(5/6), 322-332. Boom Juridisch

Shortly after Aruba’s ‘status aparte’ within the Kingdom became a reality, the University of Aruba (UA) opened its gates in September 1988. At that time, the brand new university consisted of only one faculty: the Faculty of Law. In September 2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c102ce6ef8d7914245f3f9ec91349039
https://hdl.handle.net/1820/8cbf5894-894d-4611-9acc-4d2a6c0c3eaa