Adrian Santana

ScholarGPS® ID: 40040352381765

Affiliation

Children's Hospital of Philadelphia

Affiliation History

Field

Medicine

Discipline

Neurology

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Publications and Citation History

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Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy (journal article) 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 \| ... \| Ortiz-González, Xilma R. Human Genetics and Genomics Advances, volume 4, issue 4, pages 100236- (2023). 10.1016/j.xhgg.2023.100236 Cited by (1) \| Cite \| Source
Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy (journal article) Tintos-Hernández, Jesus A \| Santana, Adrian \| Keller, Kierstin N \| Ortiz-González, Xilma R Brain Communications, volume 3, issue 4 (2021). 10.1093/braincomms/fcab215 Cited by (2) \| Cite \| Source

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Human Genetics and Genomics Advances, volume 4, issue 4, pages 100236- (2023).

Brain Communications, volume 3, issue 4 (2021).