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Page 1
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.
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Banks E, Francis V, Lin SJ, Kharfallah F, Fonov V, Lévesque M, Han C, Kulasekaran G, Tuznik M, Bayati A, Al-Khater R, Alkuraya FS, Argyriou L, Babaei M, Bahlo M, Bakhshoodeh B, Barr E, Bartik L, Bassiony M, Bertrand M, Braun D, Buchert R, Budetta M, Cadieux-Dion M, Calame DG, Cope H, Cushing D, Efthymiou S, Elmaksoud MA, El Said HG, Froukh T, Gill HK, Gleeson JG, Gogoll L, Goh ES, Gowda VK, Haack TB, Hashem MO, Hauser S, Hoffman TL, Hogue JS, Hosokawa A, Houlden H, Huang K, Huynh S, Karimiani EG, Kaulfuß S, Korenke GC, Kritzer A, Lee H, Lupski JR, Marco EJ, McWalter K, Minassian A, Minassian BA, Murphy D, Neira-Fresneda J, Northrup H, Nyaga DM, Oehl-Jaschkowitz B, Osmond M, Person R, Pehlivan D, Petree C, Sadleir LG, Saunders C, Schoels L, Shashi V, Spillmann RC, Srinivasan VM, Torbati PN, Tos T; Undiagnosed Diseases Network; Zaki MS, Zhou D, Zweier C, Trempe JF, Durcan TM, Gan-Or Z, Avoli M, Alves C, Varshney GK, Maroofian R, Rudko DA, McPherson PS. Banks E, et al. Nat Commun. 2024 Aug 22;15(1):7239. doi: 10.1038/s41467-024-51310-z. Nat Commun. 2024. PMID: 39174524 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.
Frontal Paraventricular Cysts: Refined Definitions and Outcomes.
Whitehead MT, Manteghinejad A, Alves CAPF, Simsek O, Khalek N, Schwartz ES. Whitehead MT, et al. Among authors: alves capf. AJNR Am J Neuroradiol. 2025 Jan 10:ajnr.A8653. doi: 10.3174/ajnr.A8653. Online ahead of print. AJNR Am J Neuroradiol. 2025. PMID: 39794134
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
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 Free PMC article.
44 results