Pablo Iruzubieta Agudo

10PUBLICATIONS
84CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Solid tumoursCancer diagnosis
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (10)

|Apr 16, 2025
Intronic FGF14 GAA repeat expansions impact progression and survival in multiple system atrophy.

Viorica Chelban, David Pellerin, Nirosen Vijiaratnam

|Mar 26, 2025
The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy.

Andrea Valls, Cristina Ruiz-Roldán, Jenita Immanuel

|Feb 25, 2025
Involvement of the Superior Cerebellar Peduncles in GAA-FGF14 Ataxia.

Shihan Chen, Catherine Ashton, Rawan Sakalla

|Sep 16, 2024
Dysregulated FOXO1 activity drives skeletal muscle intrinsic dysfunction in amyotrophic lateral sclerosis.

Mónica Zufiría, Oihane Pikatza-Menoio, Maddi Garciandia-Arcelus

|Feb 17, 2024
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.

Pablo Iruzubieta, Alberto Damborenea, Mihaela Ioghen

|Aug 14, 2023
Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.

Pablo Iruzubieta, David Pellerin, Alberto Bergareche

Pageof 2

Frequent Collaborators

4 joint publications

Mª Concepción Junquera

3 joint publications

Marta Monzón

2 joint publications

Sonia Alonso-Martín

2 joint publications

Tomás Castiella