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Bio
My primary research interest is focused on the study of the natural history of mitochondrial disorders supported by NAMDC (North American Mitochondrial Disease Consortia), an NIH-funded registry that focuses on the longitudinal study of patients with mitochondrial disease. Furthermore, I am also involved in clinical trials in children and adults with mitochondrial disorders. One of my current areas of research includes the study of nitric oxide deficiency as the basis for stroke-like episodes in adults and children with a mitochondrial syndrome called MELAS.
As a PI on several grants that have been funded by national organizations in the United States, I have laid groundwork for the study of nitric oxide deficiency in MELAS syndrome and its restoration with the use of arginine and citrulline supplementation. A current NIH grant funds a phase 1 study that aims to determine the maximum tolerated dose and safety profile of citrulline supplementation in adults with MELAS syndrome. Moreover, I am involved in an international clinical trial for pediatric patients evaluating the efficacy of vatiquinone in mitochondrial refractory epilepsy.
Research Interests
Papers共 285 篇Author StatisticsCo-AuthorSimilar Experts
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ANNALS OF NEUROLOGY (2025): S125-S125
Aaron Williams, Kristian Divin, Lindsay Burrage,Fernando Scaglia,William Craigen, Vernon Sutton, Claudia Soler-Alfonso, Kevin Glinton,Ronit Marom
Genetics in Medicine Open (2025): 102869
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Charles R. Difalco,Charul Gijavanekar,Yue Wang, Alexandra N. Grace,Keren Machol,Lisa Emrick,Ning Liu,Elizabeth Mizerik,Laura Mackay,Hongzheng Dai,Liesbeth Vossaert,Fan Xia,Sarah H. Elsea,Fernando Scaglia
MOLECULAR GENETICS AND METABOLISMno. 3 (2025)
Alina Ivaniuk, Irina A Anselm, Aaron Bowen,Bruce H Cohen,Fatma Tuba Eminoglu, Jane Estrella,Renata C Gallagher,Rebecca D Ganetzky, Jennifer Gannon,Grainne S Gorman,Carol Greene,Andrea L Gropman,Richard H Haas,Michio Hirano,Seema Kapoor,Amel Karaa,Mary Kay Koenig,Cornelia Kornblum, Engin Kose,Austin Larson,Uta Lichter-Konecki,Piervito Lopriore,Michelangelo Mancuso,Robert McFarland, Aye Myat Moe,Eva Morava,Yi Shiau Ng,Russell P Saneto,Fernando Scaglia, Carolyn M Sue,Mark Tarnopolsky,Melissa A Walker,Sumit Parikh, as the Hong Kong Mitochondrial Diseases Interest Group,Fung Cheuk-Wing, Tsz-Sum Wong,Kiran Belaramani, Chun-Kong Chan,Wing-Ki Chan, Wai-Lun Larry Chan, Hon-Wing Cheung,Ka-Yin Cheung,Shek-Kwan Chang,Sing-Ngai Cheung, Tsz-Fung Cheung,Yuk-Fai Cheung, Shuk-Ching Josephine Chong,Chi-Kwan Jasmine Chow, Hon-Yin B Chung,Sin-Ying Florence Fan, Wai-Ming Joshua Fok, Ka-Wing Fong,Tsui-Hang Sharon Fung,Kwok-Fai Hui,Ting-Hin Hui,Joannie Hui,Chun Hung Ko, Min-Chung Kwan, Mei-Kwan Anne Kwok,Sung-Shing Jeffrey Kwok, Moon-Sing Lai, Yau-On Lam,Ching-Wan Lam,Ming-Chung Lau,Chun-Yiu Eric Law, Hiu-Fung Law, Wing-Cheong Lee,Han-Chih Hencher Lee, Kin-Hang Leung, Kit-Yan Leung,Siu-Hung Li, Tsz-Ki Jacky Ling, Kam-Tim Timothy Liu,Fai-Man Lo, Colin Lui,Ching-On Luk,Ho-Ming Luk,Che-Kwan Ma,Karen Ma,Kam-Hung Ma,Yuen-Ni Mew,Alex Mo, Sui-Fun Hg,Wing-Kit Grace Poon,Bun Sheng,Cheuk-Ling Charing Szeto,Shuk-Mui Tai, Jing-Liang Tang, Choi-Ting Alan Tse, Li-Yan Lilian Tsung, Ho-Ming June Wong, Wing-Yin Winnie Wong, Kwok-Kui Wong,Suet-Na Sheila Wong,Chun-Nei Virginia Wong, Wai-Shan Sammy Wong,Chi-Kin Felix Wong,Shun-Ping Wu, Hiu-Fung Jerome Wu,Man-Mut Yau,Kin-Cheong Eric Yau,Wai-Lan Yeung, Hon-Ming Jonas Yeung, Kin-Keung Edwin Yip, Hui-Jun Wu, Pui-Hong Terence Young, Gao Yuan,Yuet-Ping Liz Yuen,Chi-Lap Yuen
Neurologyno. 4 (2025): e209779-e209779
Bobby G Ng,Erik A Eklund, Jill A Rosenfeld,Abdallah F Elias, Aya Abu-El-Haija,Celine Bris,Magalie Barth,Jong-Hee Chae,Murim Choi, Holly A Dubbs,Carl Fratter,Nicola Foulds,Candace Gamble,Ralitza H Gavrilova, Jaclyn Haven, Trevor L Hoffman,Jill V Hunter,Austin Larson, Timothy Edward Lotze, Pilar Magoulas, Emily C Magness, Debra M Bootin, Eric D Marsh, Victoria Nesbitt, Matthew T Pastore, Joanna Poulton,Shamima Rahman,Fernando Scaglia, Chaya Murali, Jennifer Posey,Joshua Rotenberg, Betsy Schmalz,Deepali N Shinde, Zöe Powis, Rivka Sukenik-Halevy, Kristen V Truxal, Tami Uster, Matheus Vernet Machado Bressan Wilke, Erik Klee,Hyewon Woo, Donald Younkin, Jianhua Zhao, Jorge Granadillo, Seema Lalani,David Chitayat, Wendy K Chung, Hudson H Freeze, Volkan Okur
Genetics in medicine open (2025): 103425-103425
Sanne Verberkmoes,Gina L Mazza,Andrew C Edmondson,Fernando Scaglia, Seishu Horikoshi, Bryce Kuschel,Mirian C H Janssen,Jehan Mousa,Austin Larson,Rameen Shah, Georgia McDonald,Kyriaki Sarafoglou,Gerard Berry,Tamas Kozicz,Christina Lam,Eva Morava
Movement Disorders Clinical Practiceno. 6 (2024): 708-715
Hong Kong medical journal = Xianggang yi xue za zhino. 1 (2024): 45-46
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#Papers: 286
#Citation: 12727
H-Index: 62
G-Index: 107
Sociability: 8
Diversity: 3
Activity: 20
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