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

Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism.

缬氨酸和异亮氨酸氧化的代谢重排可提高丙酰辅酶A代谢紊乱斑马鱼模型的存活率

期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddaf100
Hong Sungkook, Pardo Joel, Head PamelaSara E, Ellis Katharine T, Arnold Madeline L, Achilly Nathan P, Carrington Blake, Bishop Kevin, Sood Raman, Kratz Lisa, Sloan Jennifer L, Shchelochkov Oleg A, Venditti Charles P
代谢
Fish
发表日期：2025
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Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome

症状前训练可减轻雷特综合征小鼠模型的功能缺陷

期刊:Nature
影响因子:50.5
doi:10.1038/s41586-021-03369-7
Nathan P Achilly, Wei Wang, Huda Y Zoghbi
信号转导
Mouse
发表日期：2021
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Deleting Mecp2 from the cerebellum rather than its neuronal subtypes causes a delay in motor learning in mice

从小脑中删除 Mecp2 而不是其神经元亚型会导致小鼠运动学习延迟

期刊:Elife
影响因子:6.4
doi:10.7554/eLife.64833
Nathan P Achilly, Ling-Jie He, Olivia A Kim, Shogo Ohmae, Gregory J Wojaczynski, Tao Lin, Roy V Sillitoe, Javier F Medina, Huda Y Zoghbi
神经
发表日期：2021
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The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology

维生素B12加工酶mmachc对斑马鱼的存活、生长和视网膜形态至关重要。

期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddaa044
Sloan, Jennifer L; Achilly, Nathan P; Arnold, Madeline L; Catlett, Jerrel L; Blake, Trevor; Bishop, Kevin; Jones, Marypat; Harper, Ursula; English, Milton A; Anderson, Stacie; Trivedi, Niraj S; Elkahloun, Abdel; Hoffmann, Victoria; Brooks, Brian P; Sood, Raman; Venditti, Charles P
发表日期：2020
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Properties of VIP+ synapses in the suprachiasmatic nucleus highlight their role in circadian rhythm

视交叉上核中VIP+突触的特性凸显了它们在昼夜节律中的作用

期刊:Journal of Neurophysiology
影响因子:2.1
doi:10.1152/jn.00393.2015
Achilly, Nathan P
神经科学
发表日期：2016
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A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans

SLITRK6基因纯合无义突变与人类进行性听觉神经病相关。

期刊:Laryngoscope
影响因子:2
doi:10.1002/lary.24361
Morlet, Thierry; Rabinowitz, Mindy R; Looney, Liesl R; Riegner, Tammy; Greenwood, L Ashleigh; Sherman, Eric A; Achilly, Nathan; Zhu, Anni; Yoo, Estelle; O'Reilly, Robert C; Jinks, Robert N; Puffenberger, Erik G; Heaps, Adam; Morton, Holmes; Strauss, Kevin A
发表日期：2014
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An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

由转录共调节因子 HCFC1 突变引起的 X 连锁钴胺素紊乱

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.07.022
Hung-Chun Yu, Jennifer L Sloan, Gunter Scharer, Alison Brebner, Anita M Quintana, Nathan P Achilly, Irini Manoli, Curtis R Coughlin 2nd, Elizabeth A Geiger, Una Schneck, David Watkins, Terttu Suormala, Johan L K Van Hove, Brian Fowler, Matthias R Baumgartner, David S Rosenblatt, Charles P Venditti, 
信号转导
IP
WB
Human
HCFC1
发表日期：2013
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Genetic mapping and exome sequencing identify variants associated with five novel diseases.

基因定位和外显子组测序发现了与五种新疾病相关的变异

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0028936
Puffenberger Erik G, Jinks Robert N, Sougnez Carrie, Cibulskis Kristian, Willert Rebecca A, Achilly Nathan P, Cassidy Ryan P, Fiorentini Christopher J, Heiken Kory F, Lawrence Johnny J, Mahoney Molly H, Miller Christopher J, Nair Devika T, Politi Kristin A, Worcester Kimberly N, Setton Roni A, Dipiazza Rosa, Sherman Eric A, Eastman James T, Francklyn Christopher, Robey-Bond Susan, Rider Nicholas L, Gabriel Stacey, Morton D Holmes, Strauss Kevin A
发表日期：2012
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