Author

Mai Tsukikawa

Observed institutions: Children's Hospital of Philadelphia, Thomas Jefferson University, Duke University, University of Washington, Pediatrics and Genetics, University of Pennsylvania

ORCID: 0000-0001-5176-8480

Observed ORCID: 0000-0001-5176-8480

OpenAlex ID: A5086803085

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

2013 · Xiaowu Gai, Daniele Ghezzi, et al. · The American Journal of Human Genetics · 180

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A Review of Hypertensive Retinopathy and Chorioretinopathy

2020 · Mai Tsukikawa, Andrew W Stacey · Clinical Optometry · 104

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Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease

2015 · Min Peng, Julian Ostrovsky, et al. · Human Molecular Genetics · 74

N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease

2018 · Erzsebet Polyak, Julian Ostrovsky, et al. · Molecular Genetics and Metabolism · 71

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Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach

2017 · Simon M. Petersen-Jones, Laurence M. Occelli, et al. · Journal of Clinical Investigation · 57

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Primary Respiratory Chain Disease Causes Tissue-Specific Dysregulation of the Global Transcriptome and Nutrient-Sensing Signaling Network

2013 · Zhe Zhang, Mai Tsukikawa, et al. · PLoS ONE · 53

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Mitochondrial DNA Variant in COX1 Subunit Significantly Alters Energy Metabolism of Geographically Divergent Wild Isolates in Caenorhabditis elegans

2014 · Stephen D. Dingley, Erzsebet Polyak, et al. · Journal of Molecular Biology · 45

Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations

2018 · Nutsuchar Wangtiraumnuay, Waleed Abed Alnabi, et al. · Ophthalmic Genetics · 20

Incidence of and Risk Factors for Steroid Response After Cataract Surgery in Patients With and Without Glaucoma

2021 · Karine D. Bojikian, Priscilla Nobrega, et al. · Journal of Glaucoma · 16

Idiopathic Orbital Pseudotumor Preceding Systemic Inflammatory Disease in Children

2019 · Mai Tsukikawa, Sara E. Lally, et al. · Journal of Pediatric Ophthalmology & Strabismus · 16

Optical Coherence Tomography in Knobloch Syndrome

2019 · Avrey Thau, Mai Tsukikawa, et al. · Ophthalmic surgery, lasers & imaging retina · 7

Novel ABCA4 mutation leads to loss of a conserved C-terminal motif: implications for predicting pathogenicity based on genetic testing

2017 · Nutsuchar Wangtiraumnuay, Jenina Capasso, et al. · European Journal of Ophthalmology · 5

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Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease.

2023 · Senem Cevik, Nutsuchar Wangtiraumnuay, et al. · PubMed Central · 4

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Irreversible Bilateral Cicatricial Keratoconjunctivitis after Dupilumab Therapy

2022 · Minh T. Nguyen, Mai Tsukikawa, et al. · Case Reports in Ophthalmology · 4

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Adjuvant use of laser in eyes with macular retinoblastoma treated with primary intravenous chemotherapy

2020 · Andrew W Stacey, Mai Tsukikawa, et al. · British Journal of Ophthalmology · 4

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Uveal melanoma incidentally diagnosed with neuroimaging, a case series of 3 patients

2021 · Mai Tsukikawa, Babatunde Akinpelu, et al. · Radiology Case Reports · 3

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Idiopathic orbital pseudotumor preceding systemic inflammatory disease in children

2015 · Mai Tsukikawa, Sara E. Lally, et al. · Journal of American Association for Pediatric Ophthalmology and Strabismus · 3

Postoperative Endophthalmitis after Combined Cataract Extraction and iStent Inject Implantation

2023 · Johnson Huang, Minh T. Nguyen, et al. · Case Reports in Ophthalmological Medicine · 2

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Intraocular Pressure Fluctuation Before and After Phacoemulsification in Eyes With Open-Angle Glaucoma

2026 · Karine D. Bojikian, Sarah Lee, et al. · Journal of Glaucoma

Adjuvant use of laser in eyes with macular retinoblastoma treated with primary systemic chemotherapy

2019 · Mai Tsukikawa, Andrew W. Stacey, et al. · Investigative Ophthalmology & Visual Science

Optical coherence tomography in Knobloch syndrome

2018 · Avrey Thau, Mai Tsukikawa, et al. · Journal of American Association for Pediatric Ophthalmology and Strabismus

2017 Clinic Yearbook

2017 · D. S. Levine, Ryan McClintock, et al. · The Medicine Forum

FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy

2013 · Xiaowu Gai, Daniele Ghezzi, et al. · Mitochondrion

BCoR-L1: an X-linked transcriptional co-repressor in which mutations cause multi-systemic mitochondrial disease with mtDNA depletion

2013 · Claire A. Sheldon, Erzsebet Polyak, et al. · Mitochondrion

Works count: 24

Citation count: 668

H-index: 10

I10-index: 10