Joao P. Freixo

Ferreira, 4050346, Portugal

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 32 publications

Functional Characterization of a Novel Homozygous DNAH5 Single-Nucleotide Intronic Deletion in a Consanguineous Portuguese Family with Primary Ciliary Dyskinesia.

Functional Characterization of a Novel Homozygous DNAH5 Single-Nucleotide Intronic Deletion in a Consanguineous Portuguese Family with Primary Ciliary Dyskinesia.

Journal: Cells

Published: April 28, 2026

Structural and functional characterization of DNAH5 variants in a Portuguese family with primary ciliary dyskinesia.

Structural and functional characterization of DNAH5 variants in a Portuguese family with primary ciliary dyskinesia.

Journal: Journal of assisted reproduction and genetics

Published: February 17, 2026

A personalized genomic-medicine approach to rare genomic disorders associated with simple chromosomal structural variants.

A personalized genomic-medicine approach to rare genomic disorders associated with simple chromosomal structural variants.

Journal: HGG advances

Published: October 11, 2025

Pearls & Oy-sters: Adult-Onset Coats Plus: A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease.

Pearls & Oy-sters: Adult-Onset Coats Plus: A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune Disease.

Journal: Neurology

Published: September 15, 2025

Atypical parkinsonism with dystonia and bulbar dysfunction with a ATP1A3 gene disease-causing variant.

Atypical parkinsonism with dystonia and bulbar dysfunction with a ATP1A3 gene disease-causing variant.

Journal: Parkinsonism & related disorders

Published: July 10, 2025

Missense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation.

Missense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation.

Journal: Scientific reports

Published: July 04, 2025

Nonprogressive Nephrotic Range Proteinuria Because of Indirect Cubilin Dysfunction.

Nonprogressive Nephrotic Range Proteinuria Because of Indirect Cubilin Dysfunction.

Journal: Kidney international reports

Published: May 26, 2025

Exploring the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant - first European family and literature review.

Exploring the phenotypic spectrum of the YARS1 p.(Arg367Trp) variant - first European family and literature review.

Journal: Clinical dysmorphology

Published: March 12, 2025

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.

Journal: International journal of molecular sciences

Published: March 11, 2025

Huntington's Disease-Like 2 in a European Caucasian Patient.

Huntington's Disease-Like 2 in a European Caucasian Patient.

Journal: Movement disorders clinical practice

Published: January 13, 2025

Progressive tetraparesis and bulbar symptoms.

Progressive tetraparesis and bulbar symptoms.

Journal: Practical neurology

Published: November 05, 2024

A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy - A case report.

A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy - A case report.

Journal: Molecular genetics and metabolism reports

Published: September 17, 2024

Showing 1-12 of 32

Last Updated: 09/26/2026