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S

Sandrine Chan Moi Fat

Macquarie University
H指数:8
被引数:348

个人简介

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教育背景

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工作经历

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荣誉奖项

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Characterising the motif composition and allele length distribution of ZFHX3 GGC repeat expansions in amyotrophic lateral sclerosis

鉴定肌萎缩侧索硬化症中ZFHX3 GGC串联重复扩展的基序组成和等位基因长度分布

Journal of Human Genetics
IF2.5
2026-09-150
OAAI
Zoe N. Zussa; Andrew N. Smith; Joke J.F.A van Vugt; Daniel S. O’Shaughnessy; Natalie Grima; Sandrine Chan Moi Fat; Ian P. Blair; Dominic B. Rowe; Roger Pamphlett; Garth A. Nicholson; Matthew C. Kiernan; Wouter van Rheenen; Jan Veldink; Kelly L. Williams; Lyndal Henden
Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease

LAMA2中的超罕见变异是额颞叶痴呆和运动神经元病的风险因素

Human Molecular Genetics
IF3.2
2026-05-210
OA
Hiu Chuen Lok; Carol Dobson-Stone; Marianne Hallupp; Sophie Matis; Ramon Landin-Romero; Boris Guennewig; Hamish Mundell; Anthony S Don; Jennifer Fifita; Emily P McCann; Sandrine Chan Moi Fat; Ian P Blair; Karen A Mather; Anbupalam Thalamuthu; Wei Wen; Perminder S Sachdev; William S Brooks; Olivier Piguet; Glenda M Halliday; Woojin S Kim; John B Kwok; null
Parkinson-like wild-type superoxide dismutase 1 pathology induces nigral dopamine neuron degeneration in a novel murine model

帕金森样野生型超氧化物歧化酶1病理学在一种新型啮齿动物模型中诱导黑质多巴胺能神经元变性

ACTA NEUROPATHOLOGICA
IF9.3
2025-03-050
OA
Abdeen, AH; Trist, BG; Nikseresht, S; Harwood, R; Roudeau, S; Rowlands, BD; Kreilaus, F; Cottam, V; Mor, D; Richardson, M; Siciliano, J; Forkgen, J; Schaffer, G; Genoud, S; Li, AA; Proschogo, N; Antonio, B; Falkenberg, G; Brueckner, D; Kysenius, K; Liddell, JR; Fat, SCM; Wu, S; Fifita, J; Lockwood, TE; Bishop, DP; Blair, I; Ortega, R; Crouch, PJ; Double, KL
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia

散发性肌萎缩性侧索硬化症和额颞痴呆的短串联重复扩增

SCIENCE ADVANCES
IF12.5
2023-05-0515
OAAI
Henden, Lyndal; Fearnley, Liam G.; Grima, Natalie; McCann, Emily P.; Dobson-Stone, Carol; Fitzpatrick, Lauren; Friend, Kathryn; Hobson, Lynne; Fat, Sandrine Chan Moi; Rowe, Dominic B.; D'Silva, Susan; Kwok, John B.; Halliday, Glenda M.; Kiernan, Matthew C.; Mazumder, Srestha; Timmins, Hannah C.; Zoing, Margaret; Pamphlett, Roger; Adams, Lorel; Bahlo, Melanie; Blair, Ian P.; Williams, Kelly L.
Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis

剪接因子脯氨酸和谷氨酰胺丰富的内含子保留，表达减少和聚集体形成是肌萎缩侧索硬化的病理特征

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
IF3.4
2021-08-0211
OAAI
Hogan, Alison L.; Grima, Natalie; Fifita, Jennifer A.; McCann, Emily P.; Heng, Benjamin; Fat, Sandrine Chan Moi; Wu, Sharlynn; Maharjan, Ram; Cain, Amy K.; Henden, Lyndal; Rayner, Stephanie; Tarr, Ingrid; Zhang, Katharine Y.; Zhao, Qiongyi; Zhang, Zong-Hong; Wright, Amanda; Lee, Albert; Morsch, Marco; Yang, Shu; Williams, Kelly L.; Blair, Ian P.
Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
IF7.5
2019-11-0512
PREAI
McCann, Emily P.; Fifita, Jennifer A.; Grima, Natalie; Galper, Jasmin; Mehta, Prachi; Freckleton, Sarah E.; Zhang, Katharine Y.; Henden, Lyndal; Hogan, Alison L.; Chan Moi Fat, Sandrine; Wu, Sharlynn S. L.; Jagaraj, Cyril J.; Berning, Britt A.; Williams, Kelly Louise; Twine, Natalie A.; Bauer, Denis; Piguet, Olivier; Hodges, John; Kwok, John B. J.; Halliday, Glenda M.; Kiernan, Matthew C.; Atkin, Julie; Rowe, Dominic B.; Nicholson, Garth A.; Walker, Adam K.; Blair, Ian P.; Yang, Shu

研究方向

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I
Ian P. Blair
H 指数:51论文数:196被引数:1.5万
K
Kelly L. Williams
H 指数:39论文数:143被引数:1.2万
E
Emily P. McCann
H 指数:19论文数:47被引数:2,365
J
Jennifer A. Fifita
H 指数:27论文数:53被引数:5,299
L
Lyndal Henden
H 指数:13论文数:48被引数:728
D
Dominic B. Rowe
H 指数:40论文数:152被引数:7,467
N
Natalie Grima
H 指数:24论文数:74被引数:2,185
M
Matthew C. Kiernan
H 指数:107论文数:1,108被引数:4.4万
D
Denis C. Bauer
H 指数:30论文数:140被引数:4,549
R
Roger Pamphlett
H 指数:43论文数:228被引数:8,613