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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.
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC. Alves CAPF, et al. AJNR Am J Neuroradiol. 2023 May;44(5):602-610. doi: 10.3174/ajnr.A7837. Epub 2023 Apr 6. AJNR Am J Neuroradiol. 2023. PMID: 37024306 Free PMC article. Review.
The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders.
Gonçalves FG, Hill B, Guo Y, Muraresku CC, McCormick E, Alves CAPF, Teixeira SR, Martin-Saavedra JS, Zolkipli-Cunningham Z, Falk MJ, Vossough A, Goldstein A, Zuccoli G. Gonçalves FG, et al. Among authors: alves capf. AJNR Am J Neuroradiol. 2020 May;41(5):917-922. doi: 10.3174/ajnr.A6514. Epub 2020 May 7. AJNR Am J Neuroradiol. 2020. PMID: 32381541 Free PMC article.
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.
Alves CAPF, Sherbini O, D'Arco F, Steel D, Kurian MA, Radio FC, Ferrero GB, Carli D, Tartaglia M, Balci TB, Powell-Hamilton NN, Schrier Vergano SA, Reutter H, Hoefele J, Günthner R, Roeder ER, Littlejohn RO, Lessel D, Lüttgen S, Kentros C, Anyane-Yeboa K, Catarino CB, Mercimek-Andrews S, Denecke J, Lyons MJ, Klopstock T, Bhoj EJ, Bryant L, Vanderver A. Alves CAPF, et al. AJNR Am J Neuroradiol. 2022 Jul;43(7):1048-1053. doi: 10.3174/ajnr.A7555. Epub 2022 Jun 30. AJNR Am J Neuroradiol. 2022. PMID: 35772801 Free PMC article.
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations.
Alves CAPF, Teixeira SR, Martin-Saavedra JS, Guimarães Gonçalves F, Lo Russo F, Muraresku C, McCormick EM, Falk MJ, Zolkipli-Cunningham Z, Ganetzky R, Vossough A, Goldstein A, Zuccoli G. Alves CAPF, et al. Ann Neurol. 2020 Aug;88(2):218-232. doi: 10.1002/ana.25789. Epub 2020 Jun 13. Ann Neurol. 2020. PMID: 32445240
[No title available]
[No authors listed] [No authors listed] PMID: 33843299
Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children.
Alves CAPF, Goldstein A, Teixeira SR, Martin-Saavedra JS, de Barcelos IP, Fadda G, Caschera L, Kidd M, Gonçalves FG, McCormick EM, Falk MJ, Zolkipli-Cunningham Z, Vossough A, Zuccoli G. Alves CAPF, et al. AJNR Am J Neuroradiol. 2021 Jan;42(2):389-396. doi: 10.3174/ajnr.A6910. Epub 2020 Dec 31. AJNR Am J Neuroradiol. 2021. PMID: 33384291 Free PMC article.
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
Cappuccio G, Ceccatelli Berti C, Baruffini E, Sullivan J, Shashi V, Jewett T, Stamper T, Maitz S, Canonico F, Revah-Politi A, Kupchik GS, Anyane-Yeboa K, Aggarwal V, Benneche A, Bratland E, Berland S, D'Arco F, Alves CA, Vanderver A, Longo D, Bertini E, Torella A, Nigro V; Telethon Undiagnosed Diseases Program; D'Amico A, van der Knaap MS, Goffrini P, Brunetti-Pierri N. Cappuccio G, et al. Hum Mutat. 2021 Jun;42(6):745-761. doi: 10.1002/humu.24210. Epub 2021 May 11. Hum Mutat. 2021. PMID: 33942428 Free PMC article.
Widening the MRI Findings of PLA2G6-Associated Neurodegeneration.
Vithayathil J, Adang L, Alves CAPF. Vithayathil J, et al. Among authors: alves capf. Neuropediatrics. 2021 Dec;52(6):509-510. doi: 10.1055/s-0041-1731804. Epub 2021 Jul 13. Neuropediatrics. 2021. PMID: 34256386 No abstract available.
46 results