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

Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder

常染色体显性遗传性HK1相关神经发育障碍伴视觉缺陷和脑部异常(NEDVIBA):一种新出现的线粒体疾病

Ng, Bobby G; Eklund, Erik A; Rosenfeld, Jill A; Elias, Abdallah F; Abu-El-Haija, Aya; Bris, Celine; Barth, Magalie; Chae, Jong-Hee; Choi, Murim; Dubbs, Holly A; Fratter, Carl; Foulds, Nicola; Gamble, Candace; Gavrilova, Ralitza H; Haven, Jaclyn; Hoffman, Trevor L; Hunter, Jill V; Larson, Austin; Lotze, Timothy Edward; Magoulas, Pilar; Magness, Emily C; Bootin, Debra M; Marsh, Eric D; Nesbitt, Victoria; Pastore, Matthew T; Poulton, Joanna; Rahman, Shamima; Scaglia, Fernando; Murali, Chaya; Posey, Jennifer; Rotenberg, Joshua; Schmalz, Betsy; Shinde, Deepali N; Powis, Zöe; Sukenik-Halevy, Rivka; Truxal, Kristen V; Uster, Tami; Machado Bressan Wilke, Matheus Vernet; Klee, Erik; Woo, Hyewon; Younkin, Donald; Zhao, Jianhua; Granadillo, Jorge; Lalani, Seema; Chitayat, David; Chung, Wendy K; Freeze, Hudson H; Okur, Volkan

Pantethine ameliorates dilated cardiomyopathy features in PPCS deficiency disorder in patients and cell line models.

泛硫乙胺可改善 PPCS 缺乏症患者和细胞系模型中的扩张型心肌病特征

Zhang Fangfang, Dorn Tatjana, Gnutti Barbara, Anikster Yair, Kuebler Sarah, Ahrens-Nicklas Rebecca, Gosselin Rachel, Rahman Shamima, Durst Ronen, Zanuttigh Enrica, Güra Miriam A, Poch Christine M, Meier Anna B, Laugwitz Karl-Ludwig, Schüller Hans-Joachim, Messias Ana C, Sibon Ody C, Finazzi Dario, Rippert Alyssa, Li Dong, Truxal Kristen, Nandi Deipanjan, Lampert Brent C, Yeo Mildrid, Gardham Alice, Nissan Batel, Horowitz Cederboim Smadar, Moretti Alessandra, Iuso Arcangela

Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction

KMT2E基因中一种新的截断变异与小脑发育不全和腭咽功能障碍相关

Abreu, Nicolas J; Siemon, Amy E; Baylis, Adriane L; Kirschner, Richard E; Pfau, Ruthann B; Ho, Mai-Lan; Hickey, Scott E; Truxal, Kristen V

Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers

兄弟二人患有常染色体隐性遗传的ACTG2相关内脏肌病

Mori, Mari; Clause, Amanda R; Truxal, Kristen; Hagelstrom, R Tanner; Manickam, Kandamurugu; Kaler, Stephen G; Prasad, Vinay; Windster, Jonathan; Alves, Maria M; Di Lorenzo, Carlo

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

进一步阐明与BCAP31相关的智力障碍:描述17个携带功能缺失和错义变异的新家族

Whalen, Sandra; Shaw, Marie; Mignot, Cyril; Héron, Delphine; Bastaraud, Sandra Chantot; Walti, Cecile Cieuta; Liebelt, Jan; Elmslie, Frances; Yap, Patrick; Hurst, Jane; Forsythe, Elisabeth; Kirmse, Brian; Ozmore, Jillian; Spinelli, Alessandro Mauro; Calabrese, Olga; de Villemeur, Thierry Billette; Tabet, Anne Claude; Levy, Jonathan; Guet, Agnes; Kossorotoff, Manoëlle; Kamien, Benjamin; Morton, Jenny; McCabe, Anne; Brischoux-Boucher, Elise; Raas-Rothschild, Annick; Pini, Antonella; Carroll, Renée; Hartley, Jessica N; Frosk, Patrick; Slavotinek, Anne; Truxal, Kristen; Jennifer, Carroll; Dheedene, Annelies; Cui, Hong; Kumar, Vishal; Thomson, Glen; Riccardi, Florence; Gecz, Jozef; Villard, Laurent

Natural history of echocardiographic abnormalities in mucopolysaccharidosis III

粘多糖贮积症 III 型患者心脏超声异常的自然史

Wilhelm, Carolyn M; Truxal, Kristen V; McBride, Kim L; Kovalchin, John P; Flanigan, Kevin M

Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy

健康儿童和粘多糖贮积症III型患者体内抗腺相关病毒抗体的差异流行率:AAV介导的基因治疗展望

Fu, Haiyan; Meadows, Aaron S; Pineda, Ricardo J; Kunkler, Krista L; Truxal, Kristen V; McBride, Kim L; Flanigan, Kevin M; McCarty, Douglas M