Jose M. Millan

Valencia, VC, Spain

Last Updated: 09/26/2026

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Found 107 publications

COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating.

COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating.

Journal: Science advances
Published: July 29, 2026

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Journal: Research square
Published: July 17, 2026

Clinical and molecular features of PRCD-associated retinopathy.

Clinical and molecular features of PRCD-associated retinopathy.

Journal: Acta ophthalmologica
Published: May 07, 2026

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Journal: medRxiv : the preprint server for health sciences
Published: February 06, 2026

Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.

Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients.

Journal: Investigative ophthalmology & visual science
Published: February 05, 2026

Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification.

Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification.

Journal: NPJ genomic medicine
Published: September 17, 2025

Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.

Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.

Journal: The Journal of molecular diagnostics : JMD
Published: September 02, 2025

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).

RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).

Journal: bioRxiv : the preprint server for biology
Published: July 15, 2025

SIR-2.3/SIRT4 loss enhances proteostasis and neuronal resilience via AMPK-induced autophagy in Huntington's disease models.

SIR-2.3/SIRT4 loss enhances proteostasis and neuronal resilience via AMPK-induced autophagy in Huntington's disease models.

Journal: Cell communication and signaling : CCS
Published: July 14, 2025

Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.

Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.

Journal: Molecular diagnosis & therapy
Published: July 06, 2025

RetiGene, a comprehensive gene atlas for inherited retinal diseases.

RetiGene, a comprehensive gene atlas for inherited retinal diseases.

Journal: American journal of human genetics
Published: June 10, 2025

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics
Published: June 02, 2025
Showing 1-12 of 107

Last Updated: 09/26/2026