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M

Martin F. Lavin

QIMR Berghofer Medical Research Institute
H指数:84
被引数:3.0万

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Phase 2a/b randomised placebo-controlled dose-escalation trial of triheptanoin for ataxia-telangiectasia: treating mitochondrial dysfunction with anaplerosis

2a/b期随机、安慰剂对照剂量递增试验：三庚酸甘油酯治疗共济失调性毛细血管扩张症的线粒体功能障碍的填充代谢治疗

eBioMedicine
IF10.8
2025-07-040
PRE
Matthew Lynch; Sophie Manoy; Peter D. Sly; Claire E. Wainwright; Ernst Wolvetang; John E. Feenstra; Jason Dowling; Robert S. Ware; Maharshi S. Patel; Diana Hermith-Ramirez; Adam Vogel; Kahn Preece; Tania Zappala; Shuan Dai; Ann Webber; Abrey Yeo; Goutham Subramanian; Geetha Rao; Cindy S. Ma; Sara Jose; Magtouf Gatei; Bowen Xin; Nicoletta Sandona; Peter Lewindon; Katherine G. Sinclair; Sam Nayler; Martin F. Lavin; David J. Coman
Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2

整合的基因组和转录组分析揭示了动眼运动性失用共济失调的基因组不稳定性机制2

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
2022-01-1817
OAAI
Kanagaraj, Radhakrishnan; Mitter, Richard; Kantidakis, Theodoros; Edwards, Matthew M.; Benitez, Anaid; Chakravarty, Probir; Fu, Beiyuan; Becherel, Olivier; Yang, Fengtang; Lavin, Martin F.; Koren, Amnon; Stewart, Aengus; West, Stephen C.

研究方向

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Geoffrey W. Birrell
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Paul P. Masci
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Philip Chen
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John de Jersey
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