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

Muscle-specific increased expression of JAG1 improves the skeletal muscle phenotype in dystrophin-deficient mice

肌肉特异性增加JAG1表达可改善肌营养不良蛋白缺陷小鼠的骨骼肌表型。

de Souza Leite, Felipe; Lambert, Matthias R; Zhang, Tracy Yuanfan; Conner, James R; Paulo, Joao A; Oliveira, Sheldon Furtado; Guha Thakurta, Sanjukta; Bowles, Jennifer; Gussoni, Emanuela; Gygi, Steven P; Widrick, Jeffrey J; Kunkel, Louis M

Conditional Dmd ablation in muscle and brain causes profound effects on muscle function and neurobehavior.

肌肉和大脑中的条件性 Dmd 消融会对肌肉功能和神经行为产生深远的影响。

Karuppasamy Muthukumar, English Katherine G, Conner James R, Rorrer Shelby N, Lopez Michael A, Crossman David K, Paul Jodi R, Gutierrez-Monreal Miguel A, Gamble Karen L, Esser Karyn A, Widrick Jeffrey J, Kunkel Louis M, Alexander Matthew S

Identifying kinematic biomarkers of the dystrophic phenotype in a zebrafish model of Duchenne muscular dystrophy

在斑马鱼杜氏肌营养不良症模型中鉴定营养不良表型的运动学生物标志物

Widrick, Jeffrey J; Lambert, Matthias R; de Souza Leite, Felipe; Jung, Youngsook Lucy; Park, Junseok; Conner, James R; Lee, Eunjung Alice; Beggs, Alan H; Kunkel, Louis M

Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.

HMG CoA还原酶(HMGCR)缺乏对骨骼肌发育的影响

Gunasekaran Mekala, Littel Hannah R, Wells Natalya M, Turner Johnnie, Campos Gloriana, Venigalla Sree, Estrella Elicia A, Ghosh Partha S, Daugherty Audrey L, Stafki Seth A, Kunkel Louis M, Foley A Reghan, Donkervoort Sandra, Bönnemann Carsten G, Toledo-Bravo de Laguna Laura, Nascimento Andres, Natera-de Benito Daniel, Draper Isabelle, Bruels Christine C, Pacak Christina A, Kang Peter B

Missense variants in TUBA4A cause myo-tubulinopathies

TUBA4A基因的错义变异会导致肌微管病

Johari, Mridul; Folland, Chiara; Saito, Yoshihiko; Oud, Machteld M; Parmar, Jevin M; Töpf, Ana; Kurbatov, Sergei; Ampleeva, Maria; Zakharova, Ekaterina Y; Chekmareva, Irina A; Shirokova, Ksenia S; Atiakshin, Dmitrii; Gardeitchik, Thatjana; Kamsteeg, Erik-Jan; Medici, Evita; Kaat, Laura Donker; Bruels, Christine C; Stafki, Seth A; Estrella, Elicia A; Littel, Hannah R; Kunkel, Louis M; Kang, Peter B; Osei-Owusu, Ikeoluwa; Pais, Lynn; O'Leary, Melaine; Austin-Tse, Christina; O'Donnell-Luria, Anne; Mangilog, Brian; Radio, Francesca Clementina; D'Amico, Adele; Ciolfi, Andrea; Tartaglia, Marco; Perrin, Aurélien; Van Goethem, Charles; Sole, Guilhem; Martin-Négrier, Marie-Laure; Cossée, Mireille; Genetti, Casie A; Valivullah, Zaheer M; Milic, Vedrana; Kovacevic, Gordana; Kosac, Ana; Moreno, Cristiane A M; Camelo, Clara Gontijo; Zanoteli, Edmar; Fahey, Michael C; Beggs, Alan H; Vissing, John; Straub, Volker; Savarese, Marco; Tasca, Giorgio; Voermans, Nicol; Laing, Nigel G; Udd, Bjarne; Nishino, Ichizo; Ravenscroft, Gianina

Muscle-specific increased expression of JAG1 improves skeletal muscle phenotype in dystrophin-deficient mice.

肌肉特异性增加 JAG1 的表达可改善肌营养不良蛋白缺乏小鼠的骨骼肌表型

de Souza Leite Felipe, Lambert Matthias R, Zhang Tracy Yuanfan, Conner James R, Paulo Joao A, Oliveira Sheldon Furtado, Thakurta Sanjukta, Bowles Jennifer, Gussoni Emanuela, Gygi Steven P, Widrick Jeffrey J, Kunkel Louis M

Corrigendium: Effects of RAS on the genesis of embryonal rhabdomyosarcoma

更正:RAS对胚胎性横纹肌肉瘤发生的影响

Langenau, David M; Keefe, Matthew D; Storer, Narie Y; Guyon, Jeffrey R; Kutok, Jeffery L; Le, Xiuning; Goessling, Wolfram; Neuberg, Donna S; Kunkel, Louis M; Zon, Leonard I

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy

青少年发病型肌病中显性终止密码子HNRNPA1变异

Turner, Johnnie; Bruels, Christine C; Daugherty, Audrey L; Estrella, Elicia A; Stafki, Seth; Syeda, Safoora B; Littel, Hannah R; Pais, Lynn; Ganesh, Vijay S; Lidov, Hart G W; Paine, Simon M L; Maddison, Paul; Harrison, Rachel E; Straub, Volker; Ghosh, Partha S; Pacak, Christina A; Kunkel, Louis M; Draper, Isabelle; Topf, Ana; Kang, Peter B

High resolution kinematic approach for quantifying impaired mobility of dystrophic zebrafish larvae

高分辨率运动学方法用于量化营养不良斑马鱼幼体的运动障碍

Widrick, Jeffrey J; Lambert, Matthias R; de Souza Leite, Felipe; Jung, Youngsook Lucy; Park, Junseok; Conner, James R; Lee, Eunjung Alice; Beggs, Alan H; Kunkel, Louis M

PP26 Critical Review Of The Reimbursement Process For Software As A Medical Device And Challenges In South Korea

PP26 对韩国医疗器械软件报销流程及其挑战的批判性回顾

Lek, Angela; Rahimov, Fedik; Jones, Peter L; Kunkel, Louis M; Kwon, Soontack; Han, Seung Jin; Kim, Kyung-Hoon