Augusto A. Castro

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 25 publications

Novel Homozygous Pathogenic Variant in DNAJC6 Causes Rapid Progressive Parkinsonism.

Novel Homozygous Pathogenic Variant in DNAJC6 Causes Rapid Progressive Parkinsonism.

Journal: Movement disorders clinical practice

Published: December 31, 2025

Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Journal: Journal of human genetics

Published: November 09, 2025

A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood.

A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood.

Journal: American journal of medical genetics. Part A

Published: October 29, 2025

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

Journal: Neurology. Genetics

Published: October 06, 2025

VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.

VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.

Journal: Cerebellum (London, England)

Published: September 23, 2025

PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.

PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.

Journal: Cerebellum (London, England)

Published: May 22, 2025

Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.

Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.

Journal: Clinical genetics

Published: March 07, 2025

Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.

Split Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.

Journal: Clinical genetics

Published: August 29, 2024

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Journal: American journal of human genetics

Published: July 22, 2024

Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool.

Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool.

Journal: Clinical epigenetics

Published: June 10, 2024

Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.

Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 23, 2024

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability.

Journal: Journal of human genetics

Published: October 25, 2023

Showing 1-12 of 25

Last Updated: 09/26/2026