logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
S

Sabrina W. Yum

children’s hospital of philadelphia
H指数:37
被引数:4,612

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Real-World Outcomes of Delandistrogene Moxeparvovec Gene Therapy: Motor Outcomes and Emerging Safety Concerns

Delandistrogene Moxeparvovec基因疗法的真实世界结果：运动结局及新兴安全性问题

Molecular Therapy
IF12
2025-10-040
PRE
Dennis J. Keselman; Juliana C. Small; Tiffany Seneviratne; Sarah McCague; Taylor L. Kaschak; Sabrina W. Yum; Andrea O’Brien; John F. Brandsema; Tamir Diamond; Kathleen M. Loomes; Kimberly Y. Lin; Carol A. Wittlieb-Weber; Oscar H. Mayer; Scott G. Daniel; Amy T. Waldman; Benjamin J. Samelson-Jones; Susan E. Matesanz; Lindsey A. George
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations

TRPV4神经肌肉疾病注册表突出了球部，骨骼和近端肢体表现

BRAIN
IF11.7
2024-06-251
PRE
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.
Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease

Charcot-marie-tooth病儿童体重指数与疾病进展的关系

NEUROLOGY
IF8.5
2023-08-150
OA
Donlevy, Gabrielle A.; Cornett, Kayla M. D.; Garnett, Sarah P.; Shy, Rosemary; Estilow, Timothy; Yum, Sabrina W.; Anderson, Kimberly; Pareyson, Davide; Moroni, Isabella; Muntoni, Francesco; Reilly, Mary M.; Finkel, Richard S.; Herrmann, David N.; Eichinger, Katy J.; Shy, Michael E.; Burns, Joshua; Menezes, Manoj P.
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants

由于GJB1变异引起的charcot-marie-tooth病CMTX1的遗传分析和自然史

BRAIN
IF11.7
2023-06-0712
OAAI
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.
Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study
ANNALS OF NEUROLOGY
IF7.7
2022-10-2812
PRE
Fridman, Vera; Sillau, Stefan; Bockhorst, Jacob; Smith, Kaitlin; Moroni, Isabella; Pagliano, Emanuela; Pisciotta, Chiara; Piscosquito, Guiseppe; Laura, 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.
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth disease

儿科charcot-marie-tooth病管理的临床实践指南

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
2022-02-0916
PRE
Yiu, Eppie M.; Bray, Paula; Baets, Jonathan; Baker, Steven K.; Barisic, Nina; de Valle, Katy; Estilow, Timothy; Farrar, Michelle A.; Finkel, Richard S.; Haberlova, Jana; Kennedy, Rachel A.; Moroni, Isabella; Nicholson, Garth A.; Ramchandren, Sindhu; Reilly, Mary M.; Rose, Kristy; Shy, Michael E.; Siskind, Carly E.; Yum, Sabrina W.; Menezes, Manoj P.; Ryan, Monique M.; Burns, Joshua
Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease
NEUROLOGY
IF8.5
2021-10-262
OA
Donlevy, Gabrielle A.; Garnett, Sarah P.; Cornett, Kayla M. D.; McKay, Marnee J.; Baldwin, Jennifer N.; Shy, Rosemary R.; Yum, Sabrina W.; Estilow, Timothy; Moroni, Isabella; Foscan, Maria; Pagliano, Emanuela; Pareyson, Davide; Laura, Matilde; Bhandari, Trupti; Muntoni, Francesco; Reilly, Mary M.; Finkel, Richard S.; Sowden, Janet E.; Eichinger, Katy J.; Herrmann, David N.; Shy, Michael E.; Burns, Joshua; Menezes, Manoj P.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

VWA1的祖先10 bp重复扩增导致隐性遗传性运动神经病

BRAIN
IF11.7
2021-01-1827
OAAI
Pagnamenta, Alistair T.; Kaiyrzhanov, Rauan; Zou, Yaqun; Da, Sahar, I; Maroofian, Reza; Donkervoort, Sandra; Dominik, Natalia; Lauffer, Marlen; Ferla, Matteo P.; Orioli, Andrea; Giess, Adam; Tucci, Arianna; Beetz, Christian; Sedghi, Maryam; Ansari, Behnaz; Barresi, Rita; Basiri, Keivan; Cortese, Andrea; Elgar, Greg; Fernandez-Garcia, Miguel A.; Yip, Janice; Foley, A. Reghan; Gutowski, Nicholas; Jungbluth, Heinz; Lassche, Saskia; Lavin, Tim; Marcelis, Carlo; Marks, Peter; Marini-Bettolo, Chiara; Medne, Livija; Moslemi, Ali-Reza; Sarkozy, Anna; Reilly, Mary M.; Muntoni, Francesco; Millan, Francisca; Muraresku, Colleen C.; Need, Anna C.; Nemeth, Andrea H.; Neuhaus, Sarah B.; Norwood, Fiona; Marie, O.; O'Driscoll, Mary; Rankin, Julia; Yum, Sabrina W.; Zolkipli-Cunningham, Zarazuela; Brusius, Isabell; Wunderlich, Gilbert; Karakaya, Mert; Wirth, Brunhilde; Fakhro, Khalid A.; Tajsharghi, Homa; Bonnemann, Carsten G.; Taylor, Jenny C.; Houlden, Henry
Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

2A型charcot-marie-tooth病的自然史: 一项大型国际多中心研究

BRAIN
IF11.7
2021-01-0837
OAAI
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.; Zuchner, 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
NEUROLOGY
IF8.5
2020-03-0334
OAAI
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.; Laura, 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.; Zuchner, Stephan; Scherer, Steven S.; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study

Charcot-marie-tooth病1A型中的修饰基因候选者: 仅病例全基因组关联研究

JOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
2019-04-0318
OAAI
Tao, Feifei; Beecham, Gary W.; Rebelo, Adriana P.; Blanton, Susan H.; Moran, John J.; Lopez-Anido, Camila; Svaren, John; Abreu, Lisa; Rizzo, Devon; Kirk, Callyn A.; Wu, Xingyao; Feely, Shawna; Verhamme, Camiel; Saporta, Mario A.; Herrmann, David N.; Day, John W.; Sumner, Charlotte J.; Lloyd, Thomas E.; Li, Jun; Yum, Sabrina W.; Taroni, Franco; Baas, Frank; Choi, Byung-Ok; Pareyson, Davide; Scherer, Steven S.; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan
Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A

SIPA1L2的变异与1A型charcot-marie-tooth疾病的表型改变相关

ANNALS OF NEUROLOGY
IF7.7
2019-02-2835
OAAI
Tao, Feifei; Beecham, Gary W.; Rebelo, Adriana P.; Svaren, John; Blanton, Susan H.; Moran, John J.; Lopez-Anido, Camila; Morrow, Jasper M.; Abreu, Lisa; Rizzo, Devon; Kirk, Callyn A.; Wu, Xingyao; Feely, Shawna; Verhamme, Camiel; Saporta, Mario A.; Herrmann, David N.; Day, John W.; Sumner, Charlotte J.; Lloyd, Thomas E.; Li, Jun; Yum, Sabrina W.; Taroni, Franco; Baas, Frank; Choi, Byung-Ok; Pareyson, Davide; Scherer, Steven S.; Reilly, Mary M.; Shy, Michael E.; Zuechner, Stephan; Lewis, Richard; Acsadi, Gyula; Finkel, Richard; Fridman, Vera; Ramchandren, Sindhu; Walk, David; Logigian, Eric; Stanton, Michael; Eichinger, Katy; Guntrum, Debra; Gibson, Cindy; Burns, Joshua; Moroni, Isabella; Pisciotta, Chiara; Laura, Matilde; Muntoni, Francesco; Sowden, Janet E.; Mountain, Joan; Bai, Yunhong; Bacon, Chelsea; Gutmann, Laurie; Grider, Tiffany; Phetteplace, Janel; Seyedsadjadi, Reza; Houlden, Henry; Cortese, Andrea; Pandraud, Amelie; Calabrese, Daniela; Saveri, Paola; Richardson, Jessica; Dankwa, Lois; Lee, Diana; Siskind, Carly; Maciel, Renata; Bis, Dana

研究方向

暂未获取到该数据
M
Michael E. Shy
H 指数:73论文数:435被引数:1.7万
S
Steven S. Scherer
H 指数:80论文数:298被引数:2.0万
M
Mary M. Reilly
H 指数:81论文数:849被引数:2.3万
P
Pareyson, Davide
H 指数:0论文数:5被引数:121
D
David N. Herrmann
H 指数:35论文数:226被引数:4,171
R
Richard S. Finkel
H 指数:83论文数:471被引数:3.1万
J
Joshua Burns
H 指数:53论文数:419被引数:9,723
F
Francesco Muntoni
H 指数:97论文数:768被引数:3.7万
I
Isabella Moroni
H 指数:52论文数:300被引数:8,718
R
Rosemary Shy
H 指数:17论文数:58被引数:1,434