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

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations

TRPV4神经肌肉疾病登记研究重点关注延髓、骨骼和近端肢体表现

Kosmanopoulos, Gage P; Donohue, Jack K; Hoke, Maya; Thomas, Simone; Peyton, Margo A; Vo, Linh; Crawford, Thomas O; Sadjadi, Reza; Herrmann, David N; Yum, Sabrina W; Reilly, Mary M; Scherer, Steven S; Finkel, Richard S; Lewis, Richard A; Pareyson, Davide; Pisciotta, Chiara; Walk, David; Shy, Michael E; Sumner, Charlotte J; McCray, Brett A

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

由SORD基因突变引起的夏科-马里-图斯病的基因型和表型谱

Cortese, Andrea; Dohrn, Maike F; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J; Fernandez-Eulate, Gorka; Haddad, Saif; Laurà, Matilde; Rossor, Alexander M; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F; Achenbach, Pascal; Schöne, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D; Winter, Natalie; Creigh, Peter D; Sowden, Janet E; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K L; Brennan, Kathryn M; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R; Kennerson, Marina L; Kayserili, Hülya; Amado, Defne A; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C; Yi-Chung, Lee; Başak, Ayşe N; Hamed, Sherifa A; Rojas-Garcia, Ricardo; Claeys, Kristl G; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N; Scherer, Steven S; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M; Shy, Michael E; Züchner, Stephan

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

ITPR3 中的一种复发性错义变异会导致脱髓鞘性夏科-马里-图斯病,严重程度不一

Beijer Danique, Dohrn Maike F, Rebelo Adriana, Danzi Matt C, Grosz Bianca Rose, Ellis Melina, Kumar Kishore R, Vucic Steve, Vais Horia, Weissenrieder Jillian S, Lunko Olesia, Paudel Usha, Simpson Leah C, Camarena Vladimir, Raposo Jacquelyn, Saporta Mario, Arcia Yeisha, Xu Isaac, Feely Shawna, Record Christopher J, Blake Julian, Reilly Mary M, Scherer Steven S, Kennerson Marina, Lee Yi-Chung, Foskett J Kevin, Shy Michael E, Zuchner Stephan

Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13

与肌管蛋白相关蛋白2和13突变相关的夏科-马里-图斯病4B型(CMT4B)的疾病进展

Bertini, Alessandro; Reilly, Mary M; Pisciotta, Chiara; Previtali, Stefano C; Parman, Yesim; Battaloglu, Esra; Laurà, Matilde; Blake, Julian; Sacconi, Sabrina; Attarian, Shahram; Stojkovic, Tanya; Bellatache, Mounia; Nouioua, Sonia; Tazir, Meriem; Cakar, Arman; Gambardella, Antonio; Valentino, Paola; Lewis, Richard A; Horvath, Rita; Zambon, Alberto A; Sabatelli, Mario; Luigetti, Marco; Tozza, Stefano; Manganelli, Fiore; Herrmann, David N; Scherer, Steven S; Kressin, Nicole; Ward, Kailee; Bolino, Alessandra; Shy, Michael E; Pareyson, Davide

Association of the Recurrent ATP1 A1 Variant p.Gly549Arg With Intermediate CMT and Loss of Na,K-ATPase Function

复发性 ATP1 A1 变异体 p.Gly549Arg 与中间型 CMT 和 Na,K-ATPase 功能丧失相关

Spontarelli Fruit, Kerri; Olivera, J Fernando; Colmano, Nicolas; Bird, Shawn J; McCray, Brett A; Yano, Sho T; Scherer, Steven S; Artigas, Pablo

Chronic Severe Neutropenia Associated With Intravenous Immunoglobulin for Multifocal Motor Neuropathy

多灶性运动神经病静脉注射免疫球蛋白相关慢性重度中性粒细胞减少症

Ugarte, Shannon; Gebhard, Talia; Cornblath, David R; Scherer, Steven S; Babushok, Daria V

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

The SHR/Akr Y chromosome reveals repeated turnover of the rat pseudoautosomal region.

SHR/Akr Y 染色体揭示了大鼠假常染色体区域的反复更替

Bellott Daniel W, Skaletsky Helen, Hughes Jennifer F, Brown Laura G, Pyntikova Tatyana, Cho Ting-Jan, Koutseva Natalia, Zaghlul Sara, Kizghin Dilziba, Mendoza Mayra, Raudsepp Terje, Dugan Shannon, Khan Ziad, Wang Qiaoyan, Watt Jennifer, Worley Kim C, Scherer Steven, Muzny Donna M, Gibbs Richard A, Page David C

SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

SORD缺陷大鼠出现以运动功能为主的周围神经病变,揭示了新的病理生理学见解。

Rebelo, Adriana P; Abad, Clemer; Dohrn, Maike F; Li, Jian J; Tieu, Ethan K; Medina, Jessica; Yanick, Christopher; Huang, Jingyu; Zotter, Brendan; Young, Juan I; Saporta, Mario; Scherer, Steven S; Walz, Katherina; Zuchner, Stephan