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个人简介
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.
研究兴趣
论文共 233 篇作者统计合作学者相似作者
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Ameya Walimbe, Emily Waskow,Laura Mackay,Charul Gijavanekar,Marcus Miller,Sarah Elsea,Fernando Scaglia
Genetics in Medicine Open (2024): 100893
American journal of medical genetics. Part App.e63589-e63589, (2024)
Jonna Komulainen-Ebrahim,Salla M Kangas, Estrella López-Martín,Timothy Feyma,Fernando Scaglia, Beatriz Martínez-Delgado,Outi Kuismin,Maria Suo-Palosaari,Lucinda Carr,Reetta Hinttala,Manju A Kurian,Johanna Uusimaa
Movement disorders clinical practice (2024)
Vittoria Rossi, Dan Brooks,Hongzheng Dai,Elizabeth Mizerik, Yishay Ben-Moshe,Seema Lalani,Daryl Scott,Fernando Scaglia,Keren Machol,Mir Reza Bekheirnia
Genetics in Medicine Open (2024): 100927
Ameya Walimbe, Emily Wasko,Laura Mackay,Marcus Miller,Charul Gijavanekar,Sarah H. Elsea,Fernando Scaglia
Molecular Genetics and Metabolismno. 4 (2024): 108332
Ameya S. Walimbe,Keren Machol, Stephen F. Kralik,Elizabeth A. Mizerik,Yoel Gofin,Mir Reza Bekheirnia,Charul Gijavanekar,Sarah H. Elsea,Lisa T. Emrick,Fernando Scaglia
BMC Neurologyno. 1 (2024): 1-8
Chen-Han Wilfred Wu, Alicja Tomaszewski,Louisa A. Stark,Fernando Scaglia,Ewa Elenberg,Fredrick R. Schumacher
medRxiv (Cold Spring Harbor Laboratory) (2023)
AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 5 (2023): 1366-1372
Neurologyno. 3 (2023): e238-e252
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