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

Cooperative supramolecular integration of QS-21 into polymeric micelles as a tunable nanoadjuvant platform for subunit vaccines

将QS-21协同超分子整合到聚合物胶束中,作为亚单位疫苗的可调控纳米佐剂平台

Ward, Kailee S; Ptak, Christopher P; Pashkova, Natalya; Grider, Tiffany; Peterson, Tabitha A; Pareyson, Davide; Pisciotta, Chiara; Saveri, Paola; Moroni, Isabella; Laura, Matilde; Burns, Joshua; Menezes, Manoj P; Cornett, Kayla; Finkel, Richard; Mukherjee-Clavin, Bipasha; Sumner, Charlotte J; Greene, Maxwell; Abdul Hamid, Omer; Herrmann, David; Sadjadi, Reza; Walk, David; Züchner, Stephan; Reilly, Mary M; Scherer, Steven S; Piper, Robert C; Shy, Michael E; Márquez, Patricio Guillermo; Alonso, Leonardo Gabriel; Marfía, Juan Ignacio; Smith, Ignacio; Mourelle, Ana Carolina; Formica, María Lina; Miranda, María Victoria; Valdez, Silvina Noemí; Wolman, Federico Javier; Glisoni, Romina Julieta

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants

由SLC12A6变异引起的显性夏科-马里-图斯病谱

Record, Christopher J; Grider, Tiffany; Rebelo, Adriana P; Laurini, Christian; Skorupinska, Mariola; Danzi, Matt C; Poh, Roy; Tomaselli, Pedro J; Frezatti, Rodrigo S; Dominik, Natalia; Grosz, Bianca; Ellis, Melina; Kumar, Kishore R; Harms, Matthew B; Weihl, Conrad C; Marques Júnior, Wilson; Claeys, Kristl G; Blake, Julian C; Holt, James Kl; Weber, Astrid; Jacobson, Ryan; Dineen, Richard T; Falzone, Yuri M; Previtali, Stefano C; Menezes, Manoj P; Vucic, Steve; Laura, Matilde; Kennerson, Marina L; Shy, Michael E; Zuchner, Stephan; Reilly, Mary M

Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.

结合临床、结构和细胞研究,可以区分致病性和良性 TRPV4 变异体

Berth Sarah H, Vo Linh, Kwon Do Hoon, Grider Tiffany, Damayanti Yasmine S, Kosmanopoulos Gage, Fox Andrew, Lau Alexander R, Carr Patrice, Donohue Jack K, Hoke Maya, Thomas Simone, Karam Chafic, Fay Alex J, Meltzer Ethan, Crawford Thomas O, Gaudet Rachelle, Shy Michael E, Hellmich Ute A, Lee Seok-Yong, Sumner Charlotte J, McCray Brett A

Comprehensive genotype-phenotype analysis in POLR3-related disorders

POLR3相关疾病的综合基因型-表型分析

Michell-Robinson, Mackenzie A; Perrier, Stefanie; Gauthier, Samuel; Derksen, Alexa; Sabbagh, Quentin; Girbig, Mathias; Misiaszek, Agata D; Pizzino, Amy M; Renaud, Deborah L; De Assis Pereira, Danilo; Okuda, Paola; Karoleska, Luciana Maestri; Keller, Stephanie; Chong, Karen; Gauquelin, Laurence; Brais, Bernard; Leube, Barbara; Grider, Tiffany; Shy, Michael E; Schüle, Rebecca; Minnerop, Martina; Bertini, Enrico; Nicita, Francesco; Tonduti, Davide; Müller, Christoph W; Vanderver, Adeline; Wolf, Nicole I; Bernard, Geneviève

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability

基因假基因倒位是缺失遗传力的一个隐蔽来源

Quartesan, Ilaria; Facchini, Stefano; Manini, Arianna; Schnekenberg, Ricardo Parolin; Pisciotta, Chiara; Magri, Stefania; Negri, Sara; Gaetano, Carlo; Rebelo, Adriana; Raposo, Jacquelyn Schatzman; Mazanec, Radim; Curro, Riccardo; Dominik, Natalia; Efthymiou, Stephanie; Laurà, Matilde; Grider, Tiffany; Feely, Shawna Me; Fridman, Vera; Bertini, Alessandro; Alves, Gustavo Maximiano; Ferullo, Lucia; Ghia, Arianna; Caccia, Claudio; Balistreri, Francesca; Saveri, Paola; Crivellari, Luca; Moroni, Isabella; Danti, Federica Rachele; Mongini, Tiziana; Taroni, Franco; Auer-Grumbach, Michaela; Bugiardini, Enrico; Sleigh, James N; Tucci, Arianna; Houlden, Henry; Laššuthová, Petra; Seeman, Pavel; Basile, Anna; Giorgio, Elisa; Shy, Michael E; Zuchner, Stephan; Reilly, Mary M; Pareyson, Davide; Cortese, Andrea

Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of PMP22 Variants

夏科-马里-图斯病1E型:临床自然史和PMP22变异的分子影响

Ward, Kailee S; Ptak, Christopher P; Pashkova, Natalya; Grider, Tiffany; Peterson, Tabitha A; Pareyson, Davide; Pisciotta, Chiara; Saveri, Paola; Moroni, Isabella; Laura, Matilde; Burns, Joshua; Menezes, Manoj P; Cornett, Kayla; Finkel, Richard; Mukherjee-Clavin, Bipasha; Sumner, Charlotte J; Greene, Maxwell; Hamid, Omer Abdul; Herrmann, David; Sadjadi, Reza; Walk, David; Züchner, Stephan; Reilly, Mary M; Scherer, Steven S; Piper, Robert C; Shy, Michael E

Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A

下肢肌肉MRI脂肪分数是CMT X1、1B和2A型的一种敏感的预后指标。

Doherty, Carolynne M; Morrow, Jasper M; Zuccarino, Riccardo; Howard, Paige; Wastling, Stephen; Pipis, Menelaos; Zafeiropoulos, Nick; Stephens, Katherine J; Grider, Tiffany; Feely, Shawna M E; Nopoulous, Peggy; Skorupinska, Mariola; Milev, Evelin; Nicolaisen, Emma; Dudzeic, Magdalena; McDowell, Amy; Dilek, Nuran; Muntoni, Francesco; Rossor, Alexander M; Shah, Sachit; Laura, Matilde; Yousry, Tarek A; Thedens, Daniel; Thornton, John; Shy, Michael E; Reilly, Mary M

Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study

与MPZ基因突变相关的夏科-马里-图斯病疾病进展:一项纵向研究

Fridman, Vera; Sillau, Stefan; Bockhorst, Jacob; Smith, Kaitlin; Moroni, Isabella; Pagliano, Emanuela; Pisciotta, Chiara; Piscosquito, Guiseppe; Laurá, Matilde; Muntoni, Francesco; Bacon, Chelsea; Feely, Shawna; Grider, Tiffany; Gutmann, Laurie; Shy, Rosemary; Wilcox, Janel; Herrmann, David N; Li, Jun; Ramchandren, Sindhu; Sumner, Charlotte J; Lloyd, Thomas E; Day, John; Siskind, Carly E; Yum, Sabrina W; Sadjadi, Reza; Finkel, Richard S; Scherer, Steven S; Pareyson, Davide; Reilly, Mary M; Shy, Michael E

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

一项基于Rasch分析的CMT1A纵向研究,采用CMT神经病变和检查评分

Fridman, Vera; Sillau, Stefan; Acsadi, Gyula; Bacon, Chelsea; Dooley, Kimberly; Burns, Joshua; Day, John; Feely, Shawna; Finkel, Richard S; Grider, Tiffany; Gutmann, Laurie; Herrmann, David N; Kirk, Callyn A; Knause, Sarrah A; Laurá, Matilde; Lewis, Richard A; Li, Jun; Lloyd, Thomas E; Moroni, Isabella; Muntoni, Francesco; Pagliano, Emanuela; Pisciotta, Chiara; Piscosquito, Giuseppe; Ramchandren, Sindhu; Saporta, Mario; Sadjadi, Reza; Shy, Rosemary R; Siskind, Carly E; Sumner, Charlotte J; Walk, David; Wilcox, Janel; Yum, Sabrina W; Züchner, Stephan; Scherer, Steven S; Pareyson, Davide; Reilly, Mary M; Shy, Michael E

Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.

CMT2E 患者皮肤神经纤维中神经丝表达减少

Pisciotta Chiara, Bai Yunhong, Brennan Kathryn M, Wu Xingyao, Grider Tiffany, Feely Shawna, Wang Suola, Moore Steven, Siskind Carly, Gonzalez Michael, Zuchner Stephan, Shy Michael E