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

Expression of LIM domain-binding 3 (LDB3), a striated muscle Z-band alternatively spliced PDZ-motif protein in the nervous system

LIM 结构域结合 3 (LDB3) 是一种横纹肌 Z 带选择性剪接 PDZ 基序蛋白,在神经系统中的表达

Yotam Blech-Hermoni, Kalpana Subedi, Maya Silver, Leah Jensen, Stephen Coscia, Malcolm M Kates, Yongmei Zhao, Castle Raley, Nancy Edwards, Bao Tran, Abhik Ray-Chaudhary, Pankaj Pathak, Ami Mankodi

Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation

肌强直性营养不良患者认知功能简要评估:一项采用计算机辅助评估的多中心纵向研究

Deutsch, Gayle K; Hagerman, Katharine A; Sampson, Jacinda; Dent, Gersham; Dekdebrun, Jeanne; Parker, Dana M; Thornton, Charles A; Heatwole, Chad R; Subramony, Sub H; Mankodi, Ami K; Ashizawa, Tetsuo; Statland, Jeffrey M; Arnold, W David; Moxley, Richard T 3rd; Day, John W

Simple and economical HandClench Relaxometer device for reliable and sensitive measurement of grip myotonia in myotonic dystrophy

用于可靠、灵敏地测量强直性肌营养不良症患者握力肌强直的简单经济型手部握力放松仪

Bulea, Thomas C; Guth, Amanda; Sarkar, Nathan; Gravunder, Andrew; Hodsdon, Bonnie; Farrell, Kathleen; Comis, Leora E; Parks, Rebecca; Shimellis, Hirity; Ndege, Vanessa; Ho, Pei-Shu; Mankodi, Ami

Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy

GNE肌病中的骨骼肌磁共振生物标志物

Liu, Chia-Ying; Yao, Jianhua; Kovacs, William C; Shrader, Joseph A; Joe, Galen; Ouwerkerk, Ronald; Mankodi, Ami K; Gahl, William A; Summers, Ronald M; Carrillo, Nuria

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

提高四级转诊中心外显子组测序的效率:罕见神经遗传疾病的新突变、临床表现和诊断挑战

Grunseich, Christopher; Sarkar, Nathan; Lu, Joyce; Owen, Mallory; Schindler, Alice; Calabresi, Peter A; Sumner, Charlotte J; Roda, Ricardo H; Chaudhry, Vinay; Lloyd, Thomas E; Crawford, Thomas O; Subramony, S H; Oh, Shin J; Richardson, Perry; Tanji, Kurenai; Kwan, Justin Y; Fischbeck, Kenneth H; Mankodi, Ami

Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation

肌病相关的 LDB3 突变通过 PKCα 和 TSC2-mTOR 下调导致 Z 盘分解和蛋白质聚集

Pankaj Pathak #, Yotam Blech-Hermoni #, Kalpana Subedi, Jessica Mpamugo, Charissa Obeng-Nyarko, Rachel Ohman, Ilda Molloy, Malcolm Kates, Jessica Hale, Stacey Stauffer, Shyam K Sharan, Ami Mankodi

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

细胞内钙泄漏作为RYR1相关肌病的一种治疗靶点

Kushnir, Alexander; Todd, Joshua J; Witherspoon, Jessica W; Yuan, Qi; Reiken, Steven; Lin, Harvey; Munce, Ross H; Wajsberg, Benjamin; Melville, Zephan; Clarke, Oliver B; Wedderburn-Pugh, Kaylee; Wronska, Anetta; Razaqyar, Muslima S; Chrismer, Irene C; Shelton, Monique O; Mankodi, Ami; Grunseich, Christopher; Tarnopolsky, Mark A; Tanji, Kurenai; Hirano, Michio; Riazi, Sheila; Kraeva, Natalia; Voermans, Nicol C; Gruber, Angela; Allen, Carolyn; Meilleur, Katherine G; Marks, Andrew R

Consensus-based care recommendations for adults with myotonic dystrophy type 1

针对1型强直性肌营养不良症成人患者的共识性护理建议

Ashizawa, Tetsuo; Gagnon, Cynthia; Groh, William J; Gutmann, Laurie; Johnson, Nicholas E; Meola, Giovanni; Moxley, Richard 3rd; Pandya, Shree; Rogers, Mark T; Simpson, Ericka; Angeard, Nathalie; Bassez, Guillaume; Berggren, Kiera N; Bhakta, Deepak; Bozzali, Marco; Broderick, Ann; Byrne, Janice L B; Campbell, Craig; Cup, Edith; Day, John W; De Mattia, Elisa; Duboc, Denis; Duong, Tina; Eichinger, Katy; Ekstrom, Anne-Berit; van Engelen, Baziel; Esparis, Belen; Eymard, Bruno; Ferschl, Marla; Gadalla, Shahinaz M; Gallais, Benjamin; Goodglick, Todd; Heatwole, Chad; Hilbert, James; Holland, Venessa; Kierkegaard, Marie; Koopman, Wilma J; Lane, Kari; Maas, Daphne; Mankodi, Ami; Mathews, Katherine D; Monckton, Darren G; Moser, David; Nazarian, Saman; Nguyen, Linda; Nopoulos, Peg; Petty, Richard; Phetteplace, Janel; Puymirat, Jack; Raman, Subha; Richer, Louis; Roma, Elisabetta; Sampson, Jacinda; Sansone, Valeria; Schoser, Benedikt; Sterling, Laurie; Statland, Jeffrey; Subramony, S H; Tian, Cuixia; Trujillo, Careniña; Tomaselli, Gordon; Turner, Chris; Venance, Shannon; Verma, Aparajitha; White, Molly; Winblad, Stefan

Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

夏科-马里-图斯病4C型:新突变、临床表现和诊断挑战

Jerath, Nivedita U; Mankodi, Ami; Crawford, Thomas O; Grunseich, Christopher; Baloui, Hasna; Nnamdi-Emeratom, Chioma; Schindler, Alice B; Heiman-Patterson, Terry; Chrast, Roman; Shy, Michael E

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

RYR1相关先天性肌病患者的新变异:遗传学、实验室和临床发现

Todd, Joshua J; Razaqyar, Muslima S; Witherspoon, Jessica W; Lawal, Tokunbor A; Mankodi, Ami; Chrismer, Irene C; Allen, Carolyn; Meyer, Mary D; Kuo, Anna; Shelton, Monique S; Amburgey, Kim; Niyazov, Dmitriy; Fequiere, Pierre; Bönnemann, Carsten G; Dowling, James J; Meilleur, Katherine G