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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2021 | 2 |
2023 | 2 |
2024 | 0 |
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Mitochondrial Dysfunction: A Common Denominator in Neurodevelopmental Disorders?
Dev Neurosci. 2021;43(3-4):222-229. doi: 10.1159/000517870. Epub 2021 Aug 3.
Dev Neurosci. 2021.
PMID: 34350863
Free PMC article.
Review.
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR.
Shieh JT, et al.
HGG Adv. 2023 Oct 12;4(4):100236. doi: 10.1016/j.xhgg.2023.100236. Epub 2023 Sep 3.
HGG Adv. 2023.
PMID: 37660254
Free PMC article.
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Lysosomal dysfunction impairs mitochondrial quality control and is associated with neurodegeneration in TBCK encephaloneuronopathy.
Tintos-Hernández JA, Santana A, Keller KN, Ortiz-González XR.
Tintos-Hernández JA, et al.
Brain Commun. 2021 Sep 16;3(4):fcab215. doi: 10.1093/braincomms/fcab215. eCollection 2021.
Brain Commun. 2021.
PMID: 34816123
Free PMC article.
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Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy.
Shieh JT, Tintos-Hernández JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londoño R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-González XR.
Shieh JT, et al.
medRxiv [Preprint]. 2023 Jan 31:2023.01.30.23285099. doi: 10.1101/2023.01.30.23285099.
medRxiv. 2023.
PMID: 36778397
Free PMC article.
Updated.
Preprint.
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