Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Inmaculada Azorín

3PUBLICATIONS

14CO-AUTHORS

Predictive and prognostic markersNeurogeneticsCrystallography

Featured researcher

Get your video featured.

Publish with JoVE

Featured researcher

Get your video featured.

Publish with JoVE

Publications (3)

Sort by Publication Date:

|Apr 14, 2026

Long-term clinical and radiological trajectories in ANO5-related myopathies highlight muscle MRI as a predictor of disease progression.

Karolina Aragon-Gawinska, Pilar Martí, Inmaculada Azorín

|Dec 12, 2024

Asymptomatic HyperCKemia in the Pediatric Population: A Prospective Study Utilizing Next-Generation Sequencing and Ancillary Tests.

Pilar Marti, Inmaculada Pitarch-Castellano, Nuria Muelas

|Sep 17, 2024

ITPR3-associated neuropathy: Report of a further family with adult onset intermediate Charcot-Marie-Tooth disease.

Javier Cabello-Murgui, Jesús Jiménez-Jiménez, Juan J Vílchez

Pageof 1

Frequent Collaborators

3 joint publications

Juan Jesus Vilchez

3 joint publications

Pilar Martí-Martínez

3 joint publications

Teresa Sevilla

2 joint publications

Rafael Sivera

2 joint publications

Inmaculada Pitarch-Castellano

2 joint publications

Nuria Muelas

1 joint publications

Javier Cabello-Murgui

1 joint publications

Jesús Jiménez-Jiménez

1 joint publications

Vincenzo Lupo

1 joint publications

Lorena Fores

Frequent Collaborators

3 joint publications

Juan Jesus Vilchez

3 joint publications

Pilar Martí-Martínez

3 joint publications

Teresa Sevilla

2 joint publications

Rafael Sivera

Top Related Videos

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Published on : Mar 04, 2014

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on : Aug 17, 2022

Modeling Charcot-Marie-Tooth Disease <em>In Vitro</em> by Transfecting Mouse Primary Motoneurons

Modeling Charcot-Marie-Tooth Disease <em>In Vitro</em> by Transfecting Mouse Primary Motoneurons

Published on : Jan 07, 2019

See more related videos

Top Related Videos

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Published on : Mar 04, 2014

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on : Aug 17, 2022

Modeling Charcot-Marie-Tooth Disease <em>In Vitro</em> by Transfecting Mouse Primary Motoneurons

Modeling Charcot-Marie-Tooth Disease <em>In Vitro</em> by Transfecting Mouse Primary Motoneurons

Published on : Jan 07, 2019

See more related videos