Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Xilma R Ortiz-González"'
Autor:
Joseph T. Shieh, Jesus A. Tintos-Hernandez, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C. Lee, Joanna J. Phillips, César A.P.F. Alves, Ivan J. Dmochowski, Xilma R. Ortiz-González
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100236- (2023)
Summary: Ferritin, the iron-storage protein, is composed of light- and heavy-chain subunits, encoded by FTL and FTH1, respectively. Heterozygous variants in FTL cause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumul
Externí odkaz:
https://doaj.org/article/965a160fc4094ecfbc3483a36e5e6fc3
Autor:
Joseph T Shieh, Jesus A Tintos-Hernández, Chaya N. Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A. Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C Lee, Joanna J Phillips, César A P F Alves, Ivan J Dmochowski, Xilma R Ortiz-González
Ferritin, the iron storage protein, is composed of light and heavy chain subunits, encoded byFTLandFTH1, respectively. Heterozygous variants inFTLcause hereditary neuroferritinopathy, a type of neurodegeneration with brain iron accumulation (NBIA). V
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e468d10d9be433607d8768fc65e418b4
https://doi.org/10.1101/2023.01.30.23285099
https://doi.org/10.1101/2023.01.30.23285099
Autor:
Xilma R, Ortiz-González, Sriram, Venneti, Jaclyn A, Biegel, Lucy B, Rorke-Adams, Brenda E, Porter
Publikováno v:
Epilepsia. 52(9)
We report the case of a child who presented at 3 months of age with complex partial seizures, a linear facial nevus, and magnetic resonance imaging (MRI) showing delayed myelination and thickened cortex in the left temporal, parietal, and occipital r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bfe0be81a49d982cf6149b28aeb2cc3d
https://pubmed.ncbi.nlm.nih.gov/21668439
https://pubmed.ncbi.nlm.nih.gov/21668439
Publikováno v:
American Journal of Medical Genetics. Part A; Jun2021, Vol. 185 Issue 6, p1639-1643, 5p
Autor:
Ortiz-González, Xilma R.
Publikováno v:
Developmental Neuroscience; 2021, Vol. 43 Issue 3/4, p222-229, 8p
Autor:
Blackburn, Patrick R., Chacon‐Camacho, Oscar F., Ortiz‐González, Xilma R., Reyes, Mariana, Lopez‐Uriarte, Graciela A., Zarei, Shabnam, Bhoj, Elizabeth J., Perez‐Solorzano, Sofia, Vaubel, Rachael A., Murphree, Marine I., Nava, Jessica, Cortes‐Gonzalez, Vianney, Parisi, Joseph E., Villanueva‐Mendoza, Cristina, Tirado‐Torres, Iris G., Li, Dong, Klee, Eric W., Pichurin, Pavel N., Zenteno, Juan C.
Publikováno v:
American Journal of Medical Genetics. Part A; Dec2018, Vol. 176 Issue 12, p2710-2719, 10p
Autor:
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., Ortiz-González, Xilma R, Tintos-Hernández, Jesus A, Bharucha-Goebel, Diana X
Publikováno v:
Annals of Neurology; Jan2018, Vol. 83 Issue 1, p153-165, 13p
Autor:
Strauss, Kevin A., DuBiner, Lauren, Simon, Mariella, Zaragoza, Michael, Sengupta, Partho P., Peng Li, Narula, Navneet, Dreike, Sandra, Platt, Julia, Procaccio, Vincent, Ortiz-González, Xilma R., Puffenberger, Erik G., Kelley, Richard I., Holmes Morton, D., Narula, Jagat, Wallace, Douglas C.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America; 2/26/2013, Vol. 110 Issue 9, p3453-3458, 6p
Autor:
Marni J. Falk
The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial dis
Autor:
Daniel Licht, Nicole Ryan
Are you looking for concise, practical answers to those questions that are often left unanswered by traditional pediatric neurology references? Are you seeking brief, evidence-based advice for complicated cases or controversial decisions? Curbside Co