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Carmen Espinós

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Professor

University of Valencia

Spain

Research Interests

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Recent Grants

Grant: Open

Translational research to improve the diagnosis, prognosis, and therapy of patients with rare neurodegenerative diseases

Open Date: 2026-01-01

Close Date: 2028-12-01

Grant: Close

New biomarkers and treatments for childhood epilepsy

Open Date: 2023-10-01

Close Date: 2025-12-01

Grant: Close

Improving the diagnosis and prognosis of patients with Wilson disease

Open Date: 2023-01-01

Close Date: 2025-01-01

Grant: Close

Clinical studies, genetic basis and prognosis biomarkers in rare neurodegenerative diseases

Open Date: 2021-12-01

Close Date: 2025-12-01

Grant: Close

Clinical studies, genetic bases and prognosis biomarkers in neurodegenerative rare disorders

Open Date: 2019-01-01

Close Date: 2021-12-01

Articles (16)

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2023

Collaborators (17)

Anna Czlonkowska

Professor

Institute of Psychiatry and Neurology

POLAND

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Jeannette Hübener-Schmid

Professor

Reutlingen University

GERMANY

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Francisco Garcia-Garcia

External lecturer

University of Valencia

SPAIN

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ANGEL ALONSO

Associate Lecturer in Personalised Medicine

Universidad de Navarra

SPAIN

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Georgios Koutsis

Associate Professor of Neurology and Neurogenetics

Ethniko kai Kapodistriako Panepistemio Athenon Iatrike Schole

GREECE

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Ronald A.M. Buijsen

Leiden University Medical Center

NETHERLANDS

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Feliciano Jesús Ramos Fuentes

Catedrático Vinculado

Universidad de Zaragoza

SPAIN

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Giovanni Stevanin

Directeur d'Etudes Cumulant (Professor)

École Pratique des Hautes Études

FRANCE

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German Moris

University of Oviedo

SPAIN

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Matthis Synofzik

Professor

Hertie Institute for clinical brain research

GERMANY

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Pablo Minguez

Instituto de Investigación Sanitaria La Fe

SPAIN

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Petr Dusek

CZECH REPUBLIC

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Hayley McLoughlin

Assistant Professor

University of Michigan–Ann Arbor

UNITED STATES

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Angel Carracedo

Full Proffessor

Universidade de Santiago de Compostela

SPAIN

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Georgia Karadima

Associate Professor of Biology and Neurogenetics

National and Kapodistrian University of Athens

GREECE

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Francesc Palau

SJD Distinguished Investigator & Chair, Scientific Advisory Board

University of Barcelona

SPAIN

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Rafael Sivera

Universidad CEU Cardenal Herrera Facultad de Ciencias de la Salud

SPAIN

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Carmen Espinós

Research Interests

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Recent Grants

Articles (16)

Genetic testing and exchangeable copper can improve the accuracy of Wilson disease diagnoses.

Integrated multiomics analysis reveals metabolic and microbiome alterations in Wilson disease

Kinesin Light Chain 1–Related Spastic‐Dystonic Tetraparesis into Adulthood

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

Undiagnosed wilson disease in cryptogenic cirrhosis: a genetic study

The Spanish Polygenic Score reference distribution: a resource for personalized medicine.

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

Profile of plasma microRNAs as a potential biomarker of Wilson's disease.

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

Standards of Fluid Biomarker Collection and Pre-analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers

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

A crowdsourcing database for the copy-number variation of the Spanish population

Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy

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

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

Collaborators (17)

Anna Czlonkowska

Jeannette Hübener-Schmid

Francisco Garcia-Garcia

ANGEL ALONSO

Georgios Koutsis

Ronald A.M. Buijsen

Feliciano Jesús Ramos Fuentes

Giovanni Stevanin

German Moris

Matthis Synofzik

Pablo Minguez

Petr Dusek

Hayley McLoughlin

Angel Carracedo

Georgia Karadima

Francesc Palau

Rafael Sivera

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