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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.
Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations.
D'Arco F, Alves CA, Raybaud C, Chong WKK, Ishak GE, Ramji S, Grima M, Barkovich AJ, Ganesan V. D'Arco F, et al. AJNR Am J Neuroradiol. 2018 Nov;39(11):2126-2131. doi: 10.3174/ajnr.A5823. Epub 2018 Sep 27. AJNR Am J Neuroradiol. 2018. PMID: 30262641 Free PMC article.
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.
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.
A Diagnostic Algorithm for Posterior Fossa Tumors in Children: A Validation Study.
Alves CAPF, Löbel U, Martin-Saavedra JS, Toescu S, Tsunemi MH, Teixeira SR, Mankad K, Hargrave D, Jacques TS, da Costa Leite C, Gonçalves FG, Vossough A, D'Arco F. Alves CAPF, et al. AJNR Am J Neuroradiol. 2021 May;42(5):961-968. doi: 10.3174/ajnr.A7057. Epub 2021 Mar 4. AJNR Am J Neuroradiol. 2021. PMID: 33664107 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.
Imaging Patterns Characterizing Mitochondrial Leukodystrophies.
Roosendaal SD, van de Brug T, Alves CAPF, Blaser S, Vanderver A, Wolf NI, van der Knaap MS. Roosendaal SD, et al. Among authors: alves capf. AJNR Am J Neuroradiol. 2021 Jul;42(7):1334-1340. doi: 10.3174/ajnr.A7097. Epub 2021 Apr 1. AJNR Am J Neuroradiol. 2021. PMID: 34255734 Free PMC article.
48 results