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

Newly Identified TPI Deficiency Treatments Function for Novel Disease-Causing Allele, TPI1(R5G).

新发现的 TPI 缺乏症治疗方法针对新的致病等位基因 TPI1(R5G)。

Figura Joseph R, Roberts Presley, Sawka Riley, Chambers Maci, Claudio Marcelo, Vollmer Laura L, Vogt Andreas, Homanics Gregg E, van Beers Eduard, Donge Mylene, Scalais Emmanuel, Sorlin Arthur, Jou Ariana J, VanDemark Andrew P, Palladino Michael J

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5

持续的 OMA1 介导的综合应激反应对 5 型痉挛性共济失调有益

Camilla Aurora Franchino, Martina Brughera, Valentina Baderna, Daniele De Ritis, Alessandra Rocco, Sara Seneca, Luc Regal, Paola Podini, Maurizio D'Antonio, Camilo Toro, Angelo Quattrini, Emmanuel Scalais, Francesca Maltecca

Abdominal Pain Mimicking a Neurological Disorder: A Case Report of Spinal Cavernous Malformation in a Pediatric Patient

腹痛症状酷似神经系统疾病:一例儿童脊髓海绵状血管畸形病例报告

Kasriel, Eliézer; Boecher-Schwarz, Hans; Scalais, Emmanuel

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

SCN8A相关疾病的基因型-表型相关性揭示了其预后和治疗意义。

Johannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, Anne; Schoonjans, An Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen Hann; Olson, Heather E; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L; Helbig, Ingo; Fitzgerald, Mark P; Goldberg, Ethan M; Roser, Timo; Borggraefe, Ingo; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke S

Loss, Gain and Altered Function of GlyR α2 Subunit Mutations in Neurodevelopmental Disorders

神经发育障碍中 GlyR α2 亚基突变的丢失、增加和功能改变

Xiumin Chen, Katie A Wilson, Natascha Schaefer, Lachlan De Hayr, Mark Windsor, Emmanuel Scalais, Germaine van Rijckevorsel, Katrien Stouffs, Carmen Villmann, Megan L O'Mara, Joseph W Lynch, Robert J Harvey

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

致病性KDM6A变异导致X连锁歌舞伎综合征2型的临床特征、性别差异及基因型-表型相关性

Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T; Bradley, Lisa; Brady, Angela F; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; Lachlan, Katherine; Lebel, Robert Roger; Byler, Melissa; Gershon, Eric; Lemire, Edmond; Gnazzo, Maria; Lepri, Francesca Romana; Marchese, Antonia; McEntagart, Meriel; McGaughran, Julie; Mizuno, Seiji; Okamoto, Nobuhiko; Rieubland, Claudine; Rodgers, Jonathan; Sasaki, Erina; Scalais, Emmanuel; Scurr, Ingrid; Suri, Mohnish; van der Burgt, Ineke; Matsumoto, Naomichi; Miyake, Noriko; Benoit, Valérie; Lederer, Damien; Banka, Siddharth

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

LMBRD2基因的新生错义变异与发育和运动迟缓、脑结构异常和畸形特征相关。

Malhotra, Alka; Ziegler, Alban; Shu, Li; Perrier, Renee; Amlie-Wolf, Louise; Wohler, Elizabeth; Lygia de Macena Sobreira, Nara; Colin, Estelle; Vanderver, Adeline; Sherbini, Omar; Stouffs, Katrien; Scalais, Emmanuel; Serretti, Alessandro; Barth, Magalie; Navet, Benjamin; Rollier, Paul; Xi, Hui; Wang, Hua; Zhang, Hainan; Perry, Denise L; Ferrarini, Alessandra; Colombo, Roberto; Pepler, Alexander; Schneider, Adele; Tomiwa, Kiyotaka; Okamoto, Nobuhiko; Matsumoto, Naomichi; Miyake, Noriko; Taft, Ryan; Mao, Xiao; Bonneau, Dominique

Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection

NCOR1 和 NCOR2 功能丧失会通过新的 GABAergic 下丘脑-CA3 投射损害记忆

Wenjun Zhou, Yanlin He, Atteeq U Rehman, Yan Kong, Sungguan Hong, Guolian Ding, Hari Krishna Yalamanchili, Ying-Wooi Wan, Basil Paul, Chuhan Wang, Yingyun Gong, Wenxian Zhou, Hao Liu, John Dean, Emmanuel Scalais, Mary O'Driscoll, Jenny E V Morton; DDD study; Xinguo Hou, Qi Wu, Qingchun Tong, Zhandon

Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

五例不同类型早发性细胞内钴胺素缺乏症患者肠外羟钴胺素剂量强化治疗:临床和生化反应

Scalais, Emmanuel; Osterheld, Elise; Geron, Christine; Pierron, Charlotte; Chafai, Ronit; Schlesser, Vincent; Borde, Patricia; Regal, Luc; Laeremans, Hilde; van Gassen, Koen L I; van den Heuvel, L Bert; De Meirleir, Linda

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

微管蛋白病(续):进一步完善与TUBG1基因变异相关的表型谱

Brock, Stefanie; Stouffs, Katrien; Scalais, Emmanuel; D'Hooghe, Marc; Keymolen, Kathelijn; Guerrini, Renzo; Dobyns, William B; Di Donato, Nataliya; Jansen, Anna C