Bruno A. Ripa-Della
Sao Paulo, SP, Brazil
Last Updated: 09/26/2026
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Found 10 publications
Diagnostic approach to episodic ataxia types 1 and 2: a proposed algorithm for limited resource-settings.
Journal: Frontiers in neurology
Published: October 29, 2025
Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutières Syndrome Phenotype.
Journal: Brain sciences
Published: July 05, 2023
Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: August 16, 2022
A rare cause of monogenic cerebral small vessel disease and stroke: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL).
Journal: Journal of neurology
Published: July 08, 2022
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.
Journal: Cold Spring Harbor molecular case studies
Published: June 27, 2022
Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 29, 2021
Corrigendum to "Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: Two new cases and review of the literature" [Brain Dev. 42(2) (2020) 211-216].
Journal: Brain & development
Published: February 20, 2021
Parental germline mosaicism in SCN3A-related severe developmental disorder.
Journal: Brain & development
Published: September 20, 2020
Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy.
Journal: Brain & development
Published: February 25, 2020
Showing 1-10 of 10
Last Updated: 09/26/2026