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Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Priestley JRC, Pace LM, Sen K, Aggarwal A, Alves CAPF, Campbell IM, Cuddapah SR, Engelhardt NM, Eskandar M, Jolín García PC, Gropman A, Helbig I, Hong X, Gowda VK, Lusk L, Trapane P, Srinivasan VM, Suwannarat P, Ganetzky RD. Priestley JRC, et al. Among authors: alves capf. Mol Genet Metab Rep. 2022 Nov 16;33:100931. doi: 10.1016/j.ymgmr.2022.100931. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36420423 Free PMC article.
Magnetic resonance imaging protocols in pediatric stroke.
Sotardi ST, Alves CAPF, Serai SD, Beslow LA, Schwartz ES, Magee R, Vossough A. Sotardi ST, et al. Among authors: alves capf. Pediatr Radiol. 2023 Jun;53(7):1324-1335. doi: 10.1007/s00247-022-05576-4. Epub 2023 Jan 6. Pediatr Radiol. 2023. PMID: 36604317 Review.
Spinal involvement in pediatric familial cavernous malformation syndrome.
Geraldo AF, Luis A, Alves CAPF, Tortora D, Guimarães J, Reimão S, Pavanello M, de Marco P, Scala M, Capra V, Rossi A, Schwartz ES, Mankad K, Severino M. Geraldo AF, et al. Among authors: alves capf. Neuroradiology. 2022 Aug;64(8):1671-1679. doi: 10.1007/s00234-022-02958-1. Epub 2022 Apr 22. Neuroradiology. 2022. PMID: 35451625
Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study.
Geraldo AF, Alves CAPF, Luis A, Tortora D, Guimarães J, Abreu D, Reimão S, Pavanello M, de Marco P, Scala M, Capra V, Vaz R, Rossi A, Schwartz ES, Mankad K, Severino M. Geraldo AF, et al. Among authors: alves capf. Neuroradiology. 2023 Feb;65(2):401-414. doi: 10.1007/s00234-022-03056-y. Epub 2022 Oct 6. Neuroradiology. 2023. PMID: 36198887 Free PMC article.
An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders.
Ni C, Yu L, Vona B, Park D, Wei Y, Schmitz DA, Wei Y, Ding Y, Sakurai M, Ballard E, Liu Y, Kumar A, Xing C, Kim HG, Ekmekci C, Karimiani EG, Imannezhad S, Eghbal F, Badv RS, Schwaibold EMC, Dehghani M, Mehrjardi MYV, Metanat Z, Eslamiyeh H, Khouj E, Alhajj SMN, Chedrawi A, Alves CAPF, Houlden H, Kruer M, Alkuraya FS, Cenik C, Maroofian R, Wu J, Buszczak M. Ni C, et al. Among authors: alves capf. bioRxiv [Preprint]. 2024 Jan 9:2024.01.09.574708. doi: 10.1101/2024.01.09.574708. bioRxiv. 2024. PMID: 38260472 Free PMC article. Preprint.
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. Among authors: alves capf. 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.
Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis.
Alves CAPF, Sidpra J, Manteghinejad A, Sudhakar S, Massey FV, Aldinger KA, Haldipur P, Lucato LT, Ferraciolli SF, Teixeira SR, Öztekin Ö, Bhattacharya D, Taranath A, Prabhu SP, Mirsky DM, Andronikou S, Millen KJ, Barkovich AJ, Boltshauser E, Dobyns WB, Barkovich MJ, Whitehead MT, Mankad K. Alves CAPF, et al. AJNR Am J Neuroradiol. 2023 Oct;44(10):1201-1207. doi: 10.3174/ajnr.A7967. Epub 2023 Aug 17. AJNR Am J Neuroradiol. 2023. PMID: 37591769
40 results