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Page 1
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.
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Iruzubieta P, Alves CAPF, Al Shamsi AM, ElGhazali G, Zaki MS, Pinelli L, Lopergolo D, Cho BPH, Jolly AA, Al Futaisi A, Al-Amrani F, Galli J, Fazzi E, Vulin K, Barajas-Olmos F, Hengel H, Aljamal BM, Nasr V, Assarzadegan F, Ragno M, Trojano L, Ojeda NM, Çakar A, Bianchi S, Pescini F, Poggesi A, Al Tenalji A, Aziz M, Mohammad R, Chedrawi A, De Stefano N, Zifarelli G, Schöls L, Haack TB, Rebelo A, Zuchner S, Koc F, Griffiths LR, Orozco L, Helmes KG, Babaei M, Bauer P, Chan Jeong W, Karimiani EG, Schmidts M, Gleeson JG, Chung WK, Alkuraya FS, Shalbafan B, Markus HS, Houlden H, Maroofian R. Iruzubieta P, et al. Among authors: alves capf. EBioMedicine. 2024 Sep;107:105297. doi: 10.1016/j.ebiom.2024.105297. Epub 2024 Aug 26. EBioMedicine. 2024. PMID: 39191170 Free PMC article.
Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study.
D'Arco F, Kandemirli SG, Dahmoush HM, Alves CAPF, Severino M, Dellepiane F, Robson CD, Lequin MH, Rossi-Espagnet C, O'Brien WT, Nash R, Clement E, Juliano AF. D'Arco F, et al. Among authors: alves capf. Neuroradiology. 2024 Aug;66(8):1397-1403. doi: 10.1007/s00234-024-03386-z. Epub 2024 Jun 4. Neuroradiology. 2024. PMID: 38833161
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.
42 results