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

Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype

PIGG基因隐性变异导致运动神经病,伴有可变传导阻滞、儿童震颤和热性惊厥:扩展表型

Record, Christopher J; O'Connor, Antoinette; Verbeek, Nienke E; van Rheenen, Wouter; Zamba Papanicolaou, Eleni; Peric, Stojan; Ligthart, Peter C; Skorupinska, Mariola; van Binsbergen, Ellen; Campeau, Philippe M; Ivanovic, Vukan; Hennigan, Brian; McHugh, John C; Blake, Julian C; Murakami, Yoshiko; Laura, Matilde; Murphy, Sinéad M; Reilly, Mary M

Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy

PNPT1杂合变异导致感觉性共济失调神经病

Haddad, Saif; Record, Christopher J; Self, Eleanor; Skorupinska, Mariola; Rossor, Alexander M; Laura, Matilde; Ingle, Gordon; Manzur, Adnan; Muntoni, Francesco; Blake, Julian C; Reilly, Mary M

Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK

英国将皮肤活检作为ATTRv淀粉样蛋白神经病诊断工具

O'Donnell, Luke F; Zhang, Victor; Carganillo, Roy; Rossor, Alexander M; Laura, Matilde; Skorupinska, Mariola; Gilbertson, Janet A; Rowczenio, Dorota; Razvi, Yousuf; Gillmore, Julian D; Reilly, Mary M

[Airway assessment scales, subjectivity and updates]

【气道评估量表、主观性和最新进展】

Ubaldo-Reyes, Laura Matilde

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

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease

全基因组测序提高了夏科-马里-图斯病的诊断率

Record, Christopher J; Pipis, Menelaos; Skorupinska, Mariola; Blake, Julian; Poh, Roy; Polke, James M; Eggleton, Kelly; Nanji, Tina; Zuchner, Stephan; Cortese, Andrea; Houlden, Henry; Rossor, Alexander M; Laura, Matilde; Reilly, Mary M

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

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants

由GJB1变异引起的夏科-马里-图斯病CMTX1的遗传分析和自然史

Record, Christopher J; Skorupinska, Mariola; Laura, Matilde; Rossor, Alexander M; Pareyson, Davide; Pisciotta, Chiara; Feely, Shawna M E; Lloyd, Thomas E; Horvath, Rita; Sadjadi, Reza; Herrmann, David N; Li, Jun; Walk, David; Yum, Sabrina W; Lewis, Richard A; Day, John; Burns, Joshua; Finkel, Richard S; Saporta, Mario A; Ramchandren, Sindhu; Weiss, Michael D; Acsadi, Gyula; Fridman, Vera; Muntoni, Francesco; Poh, Roy; Polke, James M; Zuchner, Stephan; Shy, Michael E; Scherer, Steven S; Reilly, Mary M