Carmen Espinos

Valencia, VC, Spain

Last Updated: 09/26/2026

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Found 74 publications

Kinesin Light Chain 1-Related Spastic-Dystonic Tetraparesis into Adulthood.

Kinesin Light Chain 1-Related Spastic-Dystonic Tetraparesis into Adulthood.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: July 19, 2026

Integrated multiomics analysis reveals metabolic and microbiome alterations in Wilson disease.

Integrated multiomics analysis reveals metabolic and microbiome alterations in Wilson disease.

Journal: iScience

Published: February 16, 2026

A new genotype of the IDH3A gene causes retinitis pigmentosa, generating functional dyschromatopsia from early childhood.

A new genotype of the IDH3A gene causes retinitis pigmentosa, generating functional dyschromatopsia from early childhood.

Journal: Ophthalmic genetics

Published: September 24, 2025

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.

Journal: European journal of neurology

Published: September 23, 2025

Undiagnosed wilson disease in cryptogenic cirrhosis: a genetic study.

Undiagnosed wilson disease in cryptogenic cirrhosis: a genetic study.

Journal: Annals of hepatology

Published: May 02, 2025

Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.

Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.

Journal: Neurology

Published: March 21, 2024

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.

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

Published: October 17, 2023

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.

Journal: International journal of molecular sciences

Published: September 14, 2023

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.

Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.

Journal: Journal of neurology

Published: September 12, 2023

Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.

Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients.

Journal: Molecular genetics and metabolism reports

Published: March 23, 2023

A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment.

A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment.

Journal: Biomedicines

Published: January 16, 2023

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Journal: International journal of molecular sciences

Published: September 05, 2022

Showing 1-12 of 74

Last Updated: 09/26/2026