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

Translation of expanded CGG repeats in LRP12 associated oculopharyngodistal myopathy

LRP12相关眼咽远端肌病中CGG重复序列扩增的翻译

Li, Chengcheng; Daw, Jil A; Pittman, Sara K; Maltby, Connor J; Sakurai, Hidetoshi; Todd, Peter K; Weihl, Conrad C

Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing

利用HMMSTR和靶向长读长测序技术增强疾病相关串联重复序列的检测和基因分型

Van Deynze, Kinsey; Mumm, Camille; Maltby, Connor J; Switzenberg, Jessica A; Todd, Peter K; Boyle, Alan P

Heterozygous and Homozygous RFC1 AAGGG Repeat Expansions are Common in Idiopathic Peripheral Neuropathy

杂合子和纯合子 RFC1 AAGGG 重复序列扩增在特发性周围神经病中很常见

Tang, Zitian; Ovunc, Sinem S; Mehinovic, Elle; Thomas, Simone; Ulibarri, Jenna; Li, Zefan; Baldridge, Dustin; Cruchaga, Carlos; Johnson, Matt; Milbrandt, Jeffrey; Callaghan, Brian; Höke, Ahmet; Todd, Peter K; Jin, Sheng Chih

Stress granule formation helps to mitigate neurodegeneration.

应激颗粒的形成有助于减轻神经退行性变

Glineburg M Rebecca, Yildirim Evrim, Gomez Nicolas, Rodriguez Genesis, Pak Jaclyn, Li Xingli, Altheim Christopher, Waksmacki Jacob, McInerney Gerald M, Barmada Sami J, Todd Peter K

Native functions of short tandem repeats

短串联重复序列的天然功能

Wright, Shannon E; Todd, Peter K

Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

第五届国际FMR1前突变会议对脆性X染色体前突变相关疾病的见解和建议

Tassone, Flora; Protic, Dragana; Allen, Emily Graves; Archibald, Alison D; Baud, Anna; Brown, Ted W; Budimirovic, Dejan B; Cohen, Jonathan; Dufour, Brett; Eiges, Rachel; Elvassore, Nicola; Gabis, Lidia V; Grudzien, Samantha J; Hall, Deborah A; Hessl, David; Hogan, Abigail; Hunter, Jessica Ezzell; Jin, Peng; Jiraanont, Poonnada; Klusek, Jessica; Kooy, R Frank; Kraan, Claudine M; Laterza, Cecilia; Lee, Andrea; Lipworth, Karen; Losh, Molly; Loesch, Danuta; Lozano, Reymundo; Mailick, Marsha R; Manolopoulos, Apostolos; Martinez-Cerdeno, Veronica; McLennan, Yingratana; Miller, Robert M; Montanaro, Federica Alice Maria; Mosconi, Matthew W; Potter, Sarah Nelson; Raspa, Melissa; Rivera, Susan M; Shelly, Katharine; Todd, Peter K; Tutak, Katarzyna; Wang, Jun Yi; Wheeler, Anne; Winarni, Tri Indah; Zafarullah, Marwa; Hagerman, Randi J

Guillain-Barré Syndrome After COVID-19 mRNA Vaccination in a Liver Transplantation Recipient With Favorable Treatment Response

接受COVID-19 mRNA疫苗接种后出现格林-巴利综合征的肝移植受者,治疗反应良好

Hughes, Dempsey L; Brunn, Jenna A; Jacobs, Jansen; Todd, Peter K; Askari, Fredrick K; Fontana, Robert J

The International Fragile X Premutation Registry: building a resource for research and clinical trial readiness

国际脆性X染色体前突变登记库:构建研究和临床试验准备资源

Hessl, David; Rosselot, Hilary; Miller, Robert; Espinal, Glenda; Famula, Jessica; Sherman, Stephanie L; Todd, Peter K; Cabal Herrera, Ana Maria; Lipworth, Karen; Cohen, Jonathan; Hall, Deborah A; Leehey, Maureen; Grigsby, Jim; Weber, Jayne Dixon; Alusi, Sundus; Wheeler, Anne; Raspa, Melissa; Hudson, Tamaro; Sobrian, Sonya K

Fragile X-associated tremor ataxia syndrome rating scale: Revision and content validity using a mixed method approach

脆性X染色体相关震颤共济失调综合征评定量表:采用混合方法进行修订和内容效度验证

Tosin, Michelle H S; Stebbins, Glenn T; Goetz, Christopher G; Hagerman, Randi J; Hessl, David; Zolecki, Melissa A; Todd, Peter K; Leehey, Maureen A; Hall, Deborah A

Molecular mechanisms underlying nucleotide repeat expansion disorders

核苷酸重复序列扩增疾病的分子机制

Malik, Indranil; Kelley, Chase P; Wang, Eric T; Todd, Peter K