Publications by authors named "Cesar A P F Alves"

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Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction.
Diego Cardoso Fragoso, Eiman Al-Ajmi, Agustin M Cardenas, Pilar Quijada-Fraile, Asthik Biswas, Cesar Augusto P F Alves

AJNR Am J Neuroradiol· December 2025

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Frontal Paraventricular Cysts: Refined Definitions and Outcomes.
Matthew T Whitehead, Amirreza Manteghinejad, César A P F Alves, Onur Simsek, Nahla Khalek

AJNR Am J Neuroradiol· August 2025

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A programmed decline in ribosome levels governs human early neurodevelopment.
Chunyang Ni, Yudong Wei, Barbara Vona, Dayea Park, Yulei Wei, César Augusto Pinheiro Ferreira Alves

Nat Cell Biol· August 2025

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Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.
Cesar A P F Alves, Maria Camilla Rossi-Espagnet, Francisco Perez, Amirreza Manteghinejad, James T Peterson

AJNR Am J Neuroradiol· June 2025

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Overview of neuroimaging in primary mitochondrial disorders.
Sedat Giray Kandemirli, Khalid Al-Dasuqi, Bulent Aslan, Amy Goldstein, Cesar Augusto P F Alves

Pediatr Radiol· April 2025

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Biallelic variants in encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish.
Mohamed S Abdel-Hamid, Adeline Paimboeuf, Maha S Zaki, Fernanda Figueiredo, Sherif F Abdel-Ghafar, César Augusto P F Alves

Brain Commun· February 2025

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Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M Al Shamsi, Gehad ElGhazali, Maha S Zaki

EBioMedicine· September 2024

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Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study.
Felice D'Arco, Sedat G Kandemirli, Hisham M Dahmoush, Cesar A P F Alves, Mariasavina Severino

Neuroradiology· August 2024

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Reply.
Cesar A P F Alves, Amy Goldstein, James Peterson, Arastoo Vossough

AJNR Am J Neuroradiol· August 2024

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Distinguishing multicystic from focal encephalomalacia on delayed MRI in children with term hypoxic ischemic injury.
Dana Alkhulaifat, Shyam Sunder B Venkatakrishna, César Augusto Pinheiro Ferreira Alves, Wondwossen Lerebo, Luis Octavio Tierradentro-Garcia

J Neuroimaging· May 2024

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An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disorders.
Chunyang Ni, Leqian Yu, Barbara Vona, Dayea Park, Yulei Wei, César Augusto Pinheiro Ferreira Alves

bioRxiv· January 2024

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Advancing the neuroimaging diagnosis and understanding of mitochondrial disorders.
César Augusto P F Alves, Matthew T Whitehead

Neurotherapeutics· January 2024

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Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy.
Joseph T Shieh, Jesus A Tintos-Hernandez, Chaya N Murali, Monica Penon-Portmann, Marco Flores-Mendez, César A P F Alves

HGG Adv· October 2023

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Magnetic resonance imaging protocols in pediatric stroke.
Susan T Sotardi, Cesar Augusto P F Alves, Suraj D Serai, Lauren A Beslow, Erin Simon Schwartz

Pediatr Radiol· June 2023

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Acquired hump of the corpus callosum: a rare morphologic complication after CSF shunting.
Onur Simsek, César Augusto Pinheiro Ferreira Alves, Savvas Andronikou

Childs Nerv Syst· May 2023

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Natural history of familial cerebral cavernous malformation syndrome in children: a multicenter cohort study.
Ana Filipa Geraldo, Cesar Augusto P F Alves, Aysha Luis, Domenico Tortora, Joana Guimarães

Neuroradiology· February 2023

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Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene Cause a Novel Pediatric Neuroferritinopathy.
Joseph T Shieh, Jesus A Tintos-Hernández, Chaya N Murali, Monica Penon-Portmann, Marco Flores-Mendez, César A P F Alves

medRxiv· January 2023

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Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Jessica R C Priestley, Lisa M Pace, Kuntal Sen, Anjali Aggarwal, Cesar Augusto P F Alves

Mol Genet Metab Rep· December 2022

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Teaching NeuroImage: Selectively Bright Inferior Cerebellum in Christianson Syndrome.
Cesar Augusto P F Alves, Simon M Clifford, Sarah McKeown Ruggiero, Ingo Helbig, Madeline Chadehumbe

Neurology· October 2022

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Spinal involvement in pediatric familial cavernous malformation syndrome.
Ana Filipa Geraldo, Aysha Luis, Cesar Augusto P F Alves, Domenico Tortora, Joana Guimarães

Neuroradiology· August 2022

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Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders.
Juan Sebastian Martin-Saavedra, Sara Reis Teixeira, Cesar Augusto Pinheiro Ferreira Alves, Fabrício Guimarães Gonçalves, Luis Octavio Tierradentro-García

Cerebellum· February 2022

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Correction to: Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders.
Juan Sebastian Martin-Saavedra, Sara Reis Teixeira, Cesar Augusto Pinheiro Ferreira Alves, Fabrício Guimarães Gonçalves, Luis Octavio Tierradentro-Garcia

Cerebellum· February 2022

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Neuroimaging of paediatric pineal, sellar and suprasellar tumours: a guide to differential diagnosis.
Emma A Lim, César A P F Alves, Stefania Picariello, Kristian Aquilina, Sotirios Bisdas

Childs Nerv Syst· January 2022

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Widening the MRI Findings of PLA2G6-Associated Neurodegeneration.
Joseph Vithayathil, Laura Adang, César A P F Alves

Neuropediatrics· December 2021

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Arteriopathy in pediatric stroke: an underestimated clinical entity.
Ronaldo Pizzatto, Lucas Lopes Resende, Carlos Felipe Teixeira Lobo, Yuri Costa Sarno Neves, José Albino da Paz, César Augusto Pinheiro Ferreira Alves

Arq Neuropsiquiatr· April 2021

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