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

Phase 1 Study of Oral N-Acetylmannosamine in Primary Podocytopathies

口服N-乙酰甘露糖胺治疗原发性足细胞病的I期研究

Huizing, Marjan; Ganguli, Anirban; Bolaños, Jonathan; Leoyklang, Petcharat; Wilkins, Kenneth J; Zeng, Yi; Figg, William D; Rossignol, Francis; Malicdan, May Christine V; Kopp, Jeffrey B; Gahl, William A

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder

游离唾液酸贮积症的临床和遗传特征

Wolfenson, Zoe; Grois, Gabriella; Hailemeskel, Ruth F; Sabaii, Marla; Huryn, Laryssa A; Zein, Wadih M; Lehky, Tanya; Thurm, Audrey; Joseph, Lisa; Baker, Eva H; Vezina, Gilbert; Hyland, Keith; Pollard, Laura; Macnamara, Ellen; Gropman, Andrea; Malicdan, May C; Gahl, William A; Adams, David R; Wolfe, Lynne

Anandamide Is a Potential Blood Biomarker of Hermansky-Pudlak Syndrome Pulmonary Fibrosis

花生四烯酸乙醇胺是赫曼斯基-普德拉克综合征肺纤维化的潜在血液生物标志物

Cinar, Resat; Basu, Abhishek; Arif, Muhammad; Park, Joshua K; Zawatsky, Charles N; Zuo, Ben Long G; Zuo, Mei Xing G; O'Brien, Kevin J; Behan, Molly; Introne, Wendy; Iyer, Malliga R; Gahl, William A; Malicdan, May Christine V; Gochuico, Bernadette R

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATPase亚基基因PSMC5在神经发育性蛋白酶体病中的神经元作用

Küry, Sébastien; Stanton, Janelle E; van Woerden, Geeske M; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M; Thiel, Franziska G; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G; Mullegama, Sureni V; Volker-Touw, Catharina M L Nienke; van Gassen, Koen L I; Oegema, Renske; de Pagter, Mirjam S; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V; Bernier, Raphael A; Turner, Tychele N; Srivastava, Siddharth; Dies, Kira A; Swanson, Lindsay C; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B; Malicdan, May Christine V; Adams, David R; Wolfe, Lynne; Ganetzky, Rebecca D; Muraresku, Colleen C; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M J; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J; Bryson, Lisa J; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L; Cueto-González, Anna M; Tizzano, Eduardo F; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J; McRae, Anne M; Lessard, Mathieu K; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L; Schroeder, Molly C; Gooch, Catherine; Smith, Raphael A; Pandya, Arti; Busch, Larissa M; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W; Eichler, Evan E; McWalter, Kirsty; Krawitz, Peter M; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M; Bolduc, Francois V; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke

Tandem splice acceptor sites: Profiling their relevance to human disease

串联剪接受体位点:分析其与人类疾病的相关性

Frost, Frederick G; Gu, Shaopeng; Elbert, Adrienne; Huynh, Stephanie; Lee, Hyun Kyung; Malicdan, May C V; Boerkoel, Cornelius F; Cherukuri, Praveen F

A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

缺乏 Lyst 的小鼠模型重现了 Chediak-Higashi 综合征,并表现出更早发病的神经退行性表型

Greene Sunny, Talbert Mackenzie L, Frost F Graeme, Zerfas Patricia M, Springer Danielle, Noguchi Audrey, Morimoto Marie, Maynard Dawn, Garrett Lisa, Elliot Gene, Traver Maria, Yarnell David, Leoyklang Petcharat, Burke John D, Nicoli Elena-Raluca, Gahl William A, Introne Wendy J, Malicdan May Christine V

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism

溶酶体游离唾液酸贮积症患者的诱导多能干细胞衍生神经细胞表现出糖鞘脂代谢异常

Sabir, Marya S; Jovanovic, Vukasin M; Ryu, Seungmi; Sen, Chaitali; Ormanoglu, Pinar; Pollard, Laura; Steet, Richard; Gahl, William A; Huizing, Marjan; Tristan, Carlos A; Platt, Frances M; Malicdan, May Christine V

RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.

RNA测序驱动的诊断扩大了NBAS缺乏症的表型谱

Silverstein Sarah, Cassini Thomas, Fu Jiayu, Pusey Barbara, Macnamara Ellen, Frost F Graeme, Williams Charlotte, Huang Yan, Tifft Cynthia J, Gahl William, Malicdan May-Christine, Adams David R

Insights into the renal pathophysiology in Hermansky-Pudlak syndrome-1 from urinary extracellular vesicle proteomics and a new mouse model.

通过尿液细胞外囊泡蛋白质组学和新的小鼠模型,深入了解 Hermansky-Pudlak 综合征-1 的肾脏病理生理学

Maynard Dawn M, Gochuico Bernadette R, Pri Chen Hadass, Bleck Christopher K E, Zerfas Patricia M, Introne Wendy J, Gahl William A, Malicdan May C V

Lack of significant ganglioside changes in Slc17a5 heterozygous mice: Relevance to FSASD and Parkinson's disease

Slc17a5杂合子小鼠神经节苷脂未发生显著变化:与家族性自闭症谱系障碍和帕金森病的相关性

Sabir, Marya S; Hossain, Mahin S; Pollard, Laura; Huizing, Marjan; Gahl, William A; Platt, Frances M; Malicdan, May Christine V