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

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells.

Hnrnpl 缺陷对发育中肌肉细胞转录模式的影响。

Littel Hannah R, Gunasekaran Mekala, Daugherty Audrey L, Wells Natalya M, Turner Johnnie, Bruels Christine C, Pacak Christina A, Draper Isabelle, Kang Peter B

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

利用基因组、外显子组和panel测序数据集诊断漏诊的脊髓性肌萎缩症病例

Weisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A; Daugherty, Audrey L; Folland, Chiara; Peric, Stojan; Fahmy, Nagia; Udd, Bjarne; Horáková, Magda; Łusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmüller, Hanns; Horvath, Rita; Bönnemann, Carsten G; Donkervoort, Sandra; Haliloğlu, Göknur; Herguner, Ozlem; Kang, Peter B; Ravenscroft, Gianina; Laing, Nigel; Scott, Hamish S; Töpf, Ana; Straub, Volker; Pajusalu, Sander; Õunap, Katrin; Tiao, Grace; Rehm, Heidi L; O'Donnell-Luria, Anne

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

Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome

科凯恩综合征的认知衰退和其他晚期神经系统并发症

Rajamani, Geetanjali; Stafki, Seth A; Daugherty, Audrey L; Mantyh, William G; Littel, Hannah R; Bruels, Christine C; Pacak, Christina A; Robbins, Paul D; Niedernhofer, Laura J; Abiona, Adesoji; Giunti, Paola; Mohammed, Shehla; Laugel, Vincent; Kang, Peter B

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

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

利用基因组、外显子组和panel测序数据集诊断漏诊的脊髓性肌萎缩症病例

Weisburd, Ben; Sharma, Rakshya; Pata, Villem; Reimand, Tiia; Ganesh, Vijay S; Austin-Tse, Christina; Osei-Owusu, Ikeoluwa; O'Heir, Emily; O'Leary, Melanie; Pais, Lynn; Stafki, Seth A; Daugherty, Audrey L; Folland, Chiara; Perić, Stojan; Fahmy, Nagia; Udd, Bjarne; Horakova, Magda; Łusakowska, Anna; Manoj, Rajanna; Nalini, Atchayaram; Karcagi, Veronika; Polavarapu, Kiran; Lochmüller, Hanns; Horvath, Rita; Bönnemann, Carsten G; Donkervoort, Sandra; Haliloğlu, Göknur; Herguner, Ozlem; Kang, Peter B; Ravenscroft, Gianina; Laing, Nigel; Scott, Hamish S; Töpf, Ana; Straub, Volker; Pajusalu, Sander; Õunap, Katrin; Tiao, Grace; Rehm, Heidi L; O'Donnell-Luria, Anne

One episode of low intensity aerobic exercise prior to systemic AAV9 administration augments transgene delivery to the heart and skeletal muscle

在全身注射AAV9之前进行一次低强度有氧运动,可增强转基因向心脏和骨骼肌的递送。

Pacak, Christina A; Suzuki-Hatano, Silveli; Khadir, Fatemeh; Daugherty, Audrey L; Sriramvenugopal, Mughil; Gosiker, Bennett J; Kang, Peter B; Cade, William Todd

Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy

纳米孔长读长测序在肌营养不良症诊断中的能力

Bruels, Christine C; Littel, Hannah R; Daugherty, Audrey L; Stafki, Seth; Estrella, Elicia A; McGaughy, Emily S; Truong, Don; Badalamenti, Jonathan P; Pais, Lynn; Ganesh, Vijay S; O'Donnell-Luria, Anne; Stalker, Heather J; Wang, Yang; Collins, Christin; Behlmann, Andrea; Lemmers, Richard J L F; van der Maarel, Silvère M; Laine, Regina; Ghosh, Partha S; Darras, Basil T; Zingariello, Carla D; Pacak, Christina A; Kunkel, Louis M; Kang, Peter B