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

Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9

定量测定糖基化α-肌营养不良蛋白聚糖作为肢带型肌营养不良症2I/R9型疾病严重程度的生物标志物

Vissing, John; Mozaffar, Tahseen; Johnson, Nicholas E; Mathews, Katherine D; Wicklund, Matthew P; Weihl, Conrad; Leung, Doris G; Statland, Jeffrey M; Kang, Peter B; Zingariello, Carla D; Lowes, Linda Pax; Desai, Urvi; Bates, Kameron; Alfano, Lindsay N; Xie, Han; St Romain, Jessica; Blankenbiller, Tricia; McLendon, George; Rajasingham, Thulashitha; Heitzer, Marjet; Wu-Zhang, Alyssa X; Tripp, Kenneth; Rodriguez, Hector M; Sproule, Douglas

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

Entrustable Professional Activities and the Future of Competency Evaluation in Neurology Residency Training

可信赖的专业活动与神经病学住院医师培训中能力评估的未来

Patino, Jorge; Marsh, Elisabeth Breese; Ulep, Robin; Xixis, Kathryn; Kang, Peter B; Salas, Rachel Marie E

Preclinical quality, safety, and efficacy of a CGMP iPSC-derived myogenic progenitor product for the treatment of muscular dystrophies.

用于治疗肌营养不良症的 CGMP iPSC 衍生肌源性祖细胞产品的临床前质量、安全性和有效性

Azzag Karim, Magli Alessandro, Kiley James, Sumstad Darin, Kadidlo Diane, Crist Sarah B, Norris Beverly, Ahlquist Aaron, Hocum Stone Laura L, Everett John, Shappa Faustich Jill, Seelig Davis, Rangarajan Parthasarathy, Kim Hyunkee, Flory Craig, Bushman Frederic, Ramachandran Sabarinathan, Kang Peter B, Schumacher Robert J, Wagner John E, Kyba Michael, Graham Melanie L, McKenna David H, Perlingeiro Rita C R

Expert Consensus on Genetic Diagnostic Approaches for Patients With Limb-Girdle Muscular Dystrophy

专家就肢带型肌营养不良症患者的基因诊断方法达成共识

Straub, Volker; Clause, Amanda R; Donkervoort, Sandra; Kang, Peter B; Laverty, Chamindra G; Niu, Zhiyv; Wicklund, Matthew P; Bönnemann, Carsten G; Cooper, Sandra T; Díaz-Manera, Jordi; Johnson, Nicholas E; Narayanaswami, Pushpa; Vissing, John; Walter, Maggie C; Craige, Caryne; Weihl, Conrad C

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

Long‐Read Sequencing Reveals Ancestral intragenic APOE Haplotypes with Distinct Roles in Alzheimer’s Disease

长读长测序揭示了祖先基因内APOE单倍型在阿尔茨海默病中发挥着不同的作用

Gao, Hui-Ming; Hong, Jau-Shyong; Kang, Peter B; Bonkowsky, Joshua; Jayadev, Suman; Spinazzola, Antonella; Ciesielski, Timothy H; Pandey, Neetesh; Rajabli, Farid; Sesay, Himiede; Durodoye, Razaq O; Akinyemi, Rufus O; Pericak‐Vance, Margaret; Illanes‐Manrique, Maryenela Z; Cornejo‐Olivas, Mario; Custodio, Nilton; Samper‐Ternent, Rafael; Wong, Rebeca; Haines, Jonathan L; Tosto, Giuseppe; Williams, Scott M; Baumeister, Hannah; Synofzik, Matthis; Schmid, Matthias; Peters, Oliver; Hellmann‐Regen, Julian; Priller, Josef; Buerger, Katharina; Perneczky, Robert; Laske, Christoph; Brosseron, Frederic; Ramirez, Alfredo; Spottke, Annika; Wiltfang, Jens; Schneider, Anja; Teipel, Stefan; Düzel, Emrah; Jessen, Frank; Berron, David; Ruiz, Agustin; García‐González, Pablo; Puerta, Raquel; Cano, Amanda; Olivé, Clàudia; Marquié, Marta; Valero, Sergi; Rosende‐Roca, Maitee; Sanz, Pilar; Alegret, Montserrat; Brosseron, Frederic; Martino‐Adami, Pamela; de Rojas, Itziar; Heneka, Michael T; Ramirez, Alfredo; Navarro, Arcadi; Sáez, María Eugenia; Tárraga, Lluís; Cavazos, José E; Boada, Mercè; Fernández, Victoria; Socorro, Alfredo Cabrera

Predicting the phenotype of Pompe Disease from features of GAA variants

根据GAA变异特征预测庞贝病表型

Rajamani, Geetanjali; Pillai, Nishitha R; Stafki, Seth A; Karachunski, Peter I; Kang, Peter B

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

Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium study

一项关于FKRP相关肢带型肌营养不良症R9的前瞻性观察研究:GRASP联盟研究

Alfano, Lindsay N; James, Meredith K; Grosfjeld Petersen, Kristine; Rudolf, Karen; Vissing, John; Augsburger, Renee; Mozaffar, Tahseen; Jones, Aileen; Butler, Amanda; Laubscher, Katie M; Mockler, Shelley R H; Mathews, Katherine D; Iammarino, Megan A; Reash, Natalie F; Pietruszewski, Lindsay; Lowes, Linda P; Strahler, Talia; Wicklund, Matthew; Hunn, Stephanie; Weihl, Conrad C; Sasidharan, Sandhya; Currence, Melissa; Statland, Jeffrey M; Stinson, Nikia; Holzer, Megan; Leung, Doris G; Lott, Donovan J; Kang, Peter B; Holsten, Scott; Desai, Urvi; Johnson, Nicholas E