Jorge A. Oliveira

Ferreira, 4050346, Portugal

Last Updated: 09/26/2026

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Found 164 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

Sporadic Progressive Ataxia and Palatal Tremor: An Autopsy Case without Tau Pathology.

Sporadic Progressive Ataxia and Palatal Tremor: An Autopsy Case without Tau Pathology.

Journal: Movement disorders clinical practice
Published: March 31, 2026

Hypomyelination of Early Myelinating Brain Structures.

Hypomyelination of Early Myelinating Brain Structures.

Journal: Neuropediatrics
Published: March 07, 2026

Amyotrophic Lateral Sclerosis Caused by a Pathogenic Variant in SOD1 Gene: An Atypical Rapidly Progressive Phenotype.

Amyotrophic Lateral Sclerosis Caused by a Pathogenic Variant in SOD1 Gene: An Atypical Rapidly Progressive Phenotype.

Journal: Journal of clinical neuromuscular disease
Published: March 02, 2026

Mitophagy: an emerging therapeutic target in mitochondrial diseases.

Mitophagy: an emerging therapeutic target in mitochondrial diseases.

Journal: The Biochemical journal
Published: March 02, 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

Inhibition of the mitochondrial pyruvate carrier attenuates the integrated stress response activation in a cellular model of Huntington's disease.

Inhibition of the mitochondrial pyruvate carrier attenuates the integrated stress response activation in a cellular model of Huntington's disease.

Journal: Molecular and cellular biochemistry
Published: January 21, 2026

Two genomes, one destiny: Mitophagy at the crossroads of inheritance and disease.

Two genomes, one destiny: Mitophagy at the crossroads of inheritance and disease.

Journal: Cell chemical biology
Published: November 13, 2025

Early motor deficits, sleep dysfunction and reduction in dopaminergic neurons in a PARK7-/- zebrafish larval model of Parkinson's disease.

Early motor deficits, sleep dysfunction and reduction in dopaminergic neurons in a PARK7-/- zebrafish larval model of Parkinson's disease.

Journal: Scientific reports
Published: October 13, 2025

Targeting mitochondrial deubiquitinase USP30 to induce mitophagy in heteroplasmic mitochondrial diseases.

Targeting mitochondrial deubiquitinase USP30 to induce mitophagy in heteroplasmic mitochondrial diseases.

Journal: Pharmacological reports : PR
Published: October 02, 2025

Art-Based Intervention to Promote Psychological Adjustment, Self-Concept, and Quality of Life in Children: Protocol for a Cluster Nonrandomized Controlled Trial.

Art-Based Intervention to Promote Psychological Adjustment, Self-Concept, and Quality of Life in Children: Protocol for a Cluster Nonrandomized Controlled Trial.

Journal: JMIR research protocols
Published: September 29, 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
Showing 1-12 of 164

Last Updated: 09/26/2026