日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature

ARID2相关疾病:进一步阐明27例新患者的临床表型并描述其表观遗传特征

Houdayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Céline; Alders, Mariëlle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogné, Benjamin; Cormier-Daire, Valérie; Delanne, Julian; Demaret, Tanguy; Denommé-Pichon, Anne-Sophie; Désir, Julie; Dubourg, Christèle; Fradin, Mélanie; Geneviève, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W; Guichet, Agnès; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A; McConkey, Haley; Mendelsohn, Bryce A; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clément; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W E; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frédéric Tran; Trost, Detlef; Van der Sluijs, Pleuntje J; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle

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

NAA60双等位基因变异导致N端乙酰化能力受损,从而引起常染色体隐性遗传性原发性家族性脑钙化。

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  0 ,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  0 ,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

Upstream open reading frame-introducing variants in patients with primary familial brain calcification

原发性家族性脑钙化患者的上游开放阅读框引入变异

Rovelet-Lecrux, Anne; Bonnevalle, Antoine; Quenez, Olivier; Delcroix, Wandrille; Cassinari, Kévin; Richard, Anne-Claire; Boland, Anne; Deleuze, Jean-François; Goizet, Cyril; Rucar, Alice; Verny, Christophe; Nguyen, Karine; Lecourtois, Magalie; Nicolas, Gaël

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

13岁转移性尤文氏肉瘤患者接受多孔陶瓷胸骨假体植入术

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

Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers

MAPT 重复携带者的 tau 蛋白病临床和神经病理学多样性

David Wallon #, Susana Boluda #, Anne Rovelet-Lecrux, Manon Thierry, Julien Lagarde, Laetitia Miguel, Magalie Lecourtois, Antoine Bonnevalle, Marie Sarazin, Michel Bottlaender, Mathieu Mula, Serge Marty, Natsuko Nakamura, Catherine Schramm, François Sellal, Thérèse Jonveaux, Camille Heitz, Isabelle

An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency

一例由3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏引起的成年女性非典型头部震颤和广泛白质病变病例

Boutouchent, Nassim; Bourilhon, Julie; Sudrié-Arnaud, Bénédicte; Bonnevalle, Antoine; Guyant-Maréchal, Lucie; Acquaviva, Cécile; Dujardin-Ippolito, Loréna; Bekri, Soumeya; Dabaj, Ivana; Tebani, Abdellah