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

Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons

吉维诺司他治疗杜氏肌营养不良症的长期疗效评价及自然病程比较

McDonald, Craig M; Guglieri, Michela; Vučinić, Dragana; Acsadi, Gyula; Brandsema, John F; Bruno, Claudio; Finanger, Erika L; Harper, Amy; Lobato, Mercedes Lopez; Masson, Riccardo; Muelas, Nuria; Munell, Francina; Nevo, Yoram; Péréon, Yann; Phan, Han; Sansone, Valeria A; Scoto, Mariacristina; Willis, Tracey; Finkel, Richard S; Vandenborne, Krista; Cazzaniga, Sara; Montrasio, Silvia; Alessi, Federica; Bettica, Paolo; Mercuri, Eugenio

Pontocerebellar Hypoplasia Type 1 and Associated Neuronopathies

脑桥小脑发育不全1型及相关神经病变

Škarica, Mario; Acsadi, Gyula; Živković, Sasha A

Membrane Frizzled-Related Protein-Related Disease Mimicking Idiopathic Intracranial Hypertension

膜卷曲相关蛋白相关疾病模拟特发性颅内高压

Chiou, Carolina A; Rajabi, Farrah; Fulton, Anne B; Acsadi, Gyula; Waitzman, David M; Gaier, Eric D

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

Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study

诺西那生治疗脊髓性肌萎缩症的安全性和有效性:EMBRACE 研究

Acsadi, Gyula; Crawford, Thomas O; Müller-Felber, Wolfgang; Shieh, Perry B; Richardson, Randal; Natarajan, Niranjana; Castro, Diana; Ramirez-Schrempp, Daniela; Gambino, Giulia; Sun, Peng; Farwell, Wildon

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

夏科-马里-图斯病2A型自然史:一项大型国际多中心研究

Pipis, Menelaos; Feely, Shawna M E; Polke, James M; Skorupinska, Mariola; Perez, Laura; Shy, Rosemary R; Laura, Matilde; Morrow, Jasper M; Moroni, Isabella; Pisciotta, Chiara; Taroni, Franco; Vujovic, Dragan; Lloyd, Thomas E; Acsadi, Gyula; Yum, Sabrina W; Lewis, Richard A; Finkel, Richard S; Herrmann, David N; Day, John W; Li, Jun; Saporta, Mario; Sadjadi, Reza; Walk, David; Burns, Joshua; Muntoni, Francesco; Ramchandren, Sindhu; Horvath, Rita; Johnson, Nicholas E; Züchner, Stephan; Pareyson, Davide; Scherer, Steven S; Rossor, Alexander M; Shy, Michael E; Reilly, Mary M

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

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

夏科-马里-图斯病婴儿量表的开发和验证

Mandarakas, Melissa R; Menezes, Manoj P; Rose, Kristy J; Shy, Rosemary; Eichinger, Kate; Foscan, Maria; Estilow, Timothy; Kennedy, Rachel; Herbert, Karen; Bray, Paula; Refshauge, Kathryn; Ryan, Monique M; Yiu, Eppie M; Farrar, Michelle; Sampaio, Hugo; Moroni, Isabella; Pagliano, Emanuela; Pareyson, Davide; Yum, Sabrina W; Herrmann, David N; Acsadi, Gyula; Shy, Michael E; Burns, Joshua; Sanmaneechai, Oranee

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

儿童交替性偏瘫:美国AHCF登记处187例受试者的回顾性遗传学研究及基因型-表型相关性分析

Viollet, Louis; Glusman, Gustavo; Murphy, Kelley J; Newcomb, Tara M; Reyna, Sandra P; Sweney, Matthew; Nelson, Benjamin; Andermann, Frederick; Andermann, Eva; Acsadi, Gyula; Barbano, Richard L; Brown, Candida; Brunkow, Mary E; Chugani, Harry T; Cheyette, Sarah R; Collins, Abigail; DeBrosse, Suzanne D; Galas, David; Friedman, Jennifer; Hood, Lee; Huff, Chad; Jorde, Lynn B; King, Mary D; LaSalle, Bernie; Leventer, Richard J; Lewelt, Aga J; Massart, Mylynda B; Mérida, Mario R 2nd; Ptáček, Louis J; Roach, Jared C; Rust, Robert S; Renault, Francis; Sanger, Terry D; Sotero de Menezes, Marcio A; Tennyson, Rachel; Uldall, Peter; Zhang, Yue; Zupanc, Mary; Xin, Winnie; Silver, Kenneth; Swoboda, Kathryn J

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia

BICD2基因突变会导致显性遗传性先天性脊髓性肌萎缩症和遗传性痉挛性截瘫。

Oates, Emily C; Rossor, Alexander M; Hafezparast, Majid; Gonzalez, Michael; Speziani, Fiorella; MacArthur, Daniel G; Lek, Monkol; Cottenie, Ellen; Scoto, Mariacristina; Foley, A Reghan; Hurles, Matthew; Houlden, Henry; Greensmith, Linda; Auer-Grumbach, Michaela; Pieber, Thomas R; Strom, Tim M; Schule, Rebecca; Herrmann, David N; Sowden, Janet E; Acsadi, Gyula; Menezes, Manoj P; Clarke, Nigel F; Züchner, Stephan; Muntoni, Francesco; North, Kathryn N; Reilly, Mary M