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Ortiz‐González, Xilma R., Tintos‐Hernández, Jesus A., Keller, Kierstin, Li, Xueli, Foley, A. Reghan, Bharucha‐Goebel, Diana X., Kessler, Sudha K., Yum, Sabrina W., Crino, Peter B., He, Miao, Wallace, Douglas C., Bönnemann, Carsten G.
Published in Annals of neurology (01.01.2018)
Published in Annals of neurology (01.01.2018)
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Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
Shieh, Joseph T., Tintos-Hernandez, Jesus A., Murali, Chaya N., Penon-Portmann, Monica, Flores-Mendez, Marco, Santana, Adrian, Bulos, Joshua A., Du, Kang, Dupuis, Lucie, Damseh, Nadirah, Mendoza-Londoño, Roberto, Berera, Camilla, Lee, Julieann C., Phillips, Joanna J., Alves, César A.P.F., Dmochowski, Ivan J., Ortiz-González, Xilma R.
Published in HGG advances (12.10.2023)
Published in HGG advances (12.10.2023)
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Regulation of nuclear epigenome by mitochondrial DNA heteroplasmy
Kopinski, Piotr K., Janssen, Kevin A., Schaefer, Patrick M., Trefely, Sophie, Perry, Caroline E., Potluri, Prasanth, Tintos-Hernandez, Jesus A., Singh, Larry N., Karch, Kelly R., Campbell, Sydney L., Doan, Mary T., Jiang, Helen, Nissim, Itzhak, Nakamaru-Ogiso, Eiko, Wellen, Kathryn E., Snyder, Nathaniel W., Garcia, Benjamin A., Wallace, Douglas C.
Published in Proceedings of the National Academy of Sciences - PNAS (06.08.2019)
Published in Proceedings of the National Academy of Sciences - PNAS (06.08.2019)
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IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency
Flores-Mendez, Marco, Ohl, Laura, Roule, Thomas, Zhou, Yijing, Tintos-Hernández, Jesus A, Walsh, Kelsey, Ortiz-González, Xilma R, Akizu, Naiara
Published in EMBO reports (10.09.2024)
Published in EMBO reports (10.09.2024)
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NIPBL+/− haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states
Mills, Jason A., Herrera, Pamela S, Kaur, Maninder, Leo, Lanfranco, McEldrew, Deborah, Tintos-Hernandez, Jesus A, Rajagopalan, Ramakrishnan, Gagne, Alyssa, Zhang, Zhe, Ortiz-Gonzalez, Xilma R., Krantz, Ian D.
Published in Scientific reports (18.01.2018)
Published in Scientific reports (18.01.2018)
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L-carnitine supplementation in duchenne muscular dystrophy steroid-naive patients: A pilot study
Gomez-Diaz, Benjamin, Coral-Vazquez, Ramon M, de Oca-Sanchez, Beatriz Montes, Lona-Pimentel, Socorro, Lopez-Hernandez, Luz B, Martinez-Castro, Guadalupe, Miranda-Duarte, Antonio, Garcia, Silvia, Tintos-Hernandez, Jesus A, Escobar-Cedillo, Rosa E, Rodriguez-Jurado, Rodolfo
Published in Current topics in nutraceuticals research (01.08.2013)
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Published in Current topics in nutraceuticals research (01.08.2013)
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IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency
Flores-Mendez, Marco, Ohl, Laura, Roule, Thomas, Zhou, Yijing, Tintos-Hernández, Jesus A, Walsh, Kelsey, Ortiz-González, Xilma R, Akizu, Naiara
Published in bioRxiv (22.01.2024)
Published in bioRxiv (22.01.2024)
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Journal Article
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy
Shieh, Joseph T, Tintos-Hernández, Jesus A, Murali, Chaya N, Penon-Portmann, Monica, Flores-Mendez, Marco, Santana, Adrian, Bulos, Joshua A, Du, Kang, Dupuis, Lucie, Damseh, Nadirah, Mendoza-Londoño, Roberto, Berera, Camilla, Lee, Julieann C, Phillips, Joanna J, Alves, César A P F, Dmochowski, Ivan J, Ortiz-González, Xilma R
Published in medRxiv : the preprint server for health sciences (31.01.2023)
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Published in medRxiv : the preprint server for health sciences (31.01.2023)
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