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Roser Urreizti

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Collaborator

University of Barcelona

Spain

Research Interests

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Professors in Spain Professors in Biochemistry Biochemistry professors in Spain

Recent Grants

Grant: Close

SYMBAD. Modelos Neuronales y Biomarcadores para el síndrome de Schaaf-Yang

Open Date: 2024-03-01

Close Date: 2026-03-01

Grant: Open

Pipeline para el diagnóstico y seguimiento de pacientes con enfermedades mitocondriales basado en un análisis multiómico: Mitoverso.

Open Date: 2024-01-01

Close Date: 2026-12-01

Grant: Close

TeraTRAF: Aproximación a la terapia en patologías debidas a mutaciones en TRAF7.

Open Date: 2023-01-01

Close Date: 2024-03-01

Grant: Close

Organoides de cerebro para síndromes relacionados con MAGEL2

Open Date: 2021-11-01

Close Date: 2023-11-01

Grant: Close

Secuenciación de exoma para el diagnóstico de pacientes con enfermedades mitocondriales: investigación de aspectos fisiopatológicos y terapéuticos de las deficiencias de conezima Q10

Open Date: 2021-01-01

Close Date: 2023-12-01

Articles (16)

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2025

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2023

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2023

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2022

Collaborators (11)

Arminja Kettenbach

Professor

Dartmouth College Geisel School of Medicine

UNITED STATES

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Esmeralda Martins

Assistant Professor of Pediatrics

Instituto de Ciências Biomédicas Abel Salazar

PORTUGAL

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Mercedes Serrano

Associate Professor

University of Barcelona

SPAIN

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Tomas Honzik

ass. prof

Charles University and General University Hospital in Prague, First Faculty of Medicine

CZECH REPUBLIC

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Raquel Rabionet

Professor Agregat

University of Barcelona

SPAIN

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Carlos Santos Ocaña

Universidad Pablo de Olavide

SPAIN

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Rafael Artuch

MD, PhD.. Head of clinical biochemistry Department

Hospital de la Santa Creu i Sant Pau

SPAIN

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Patrick Gaffney

Professor

Oklahoma Medical Research Foundation

UNITED STATES

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Andrew Edmondson

University of Pennsylvania

UNITED STATES

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Loreto Martorell

Head of Department

Fundació Sant Joan de Déu

SPAIN

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Francesc Palau

SJD Distinguished Investigator & Chair, Scientific Advisory Board

University of Barcelona

SPAIN

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Roser Urreizti

Research Interests

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Recent Grants

Articles (16)

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG

Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree.

Subcellular localization of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel <i>PPP2R1A</i> Variant and Its Unreported Phenotype

Genetic landscape of pediatric acute liver failure of indeterminate origin.

Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.

Collaborators (11)

Arminja Kettenbach

Esmeralda Martins

Mercedes Serrano

Tomas Honzik

Raquel Rabionet

Carlos Santos Ocaña

Rafael Artuch

Patrick Gaffney

Andrew Edmondson

Loreto Martorell

Francesc Palau

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