Alba Segarra-Casas
6PUBLICATIONS
14CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (6)
Sort by Publication Date:
|Jul 22, 2025
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features.Laura Llansó, Igor Stevanovski, Germán Morís
|Jun 18, 2025
Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy.Laura Llansó, David Reyes-Leiva, Alba Segarra-Casas
|May 25, 2025
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.Alba Segarra-Casas, Cristina Domínguez-González, Daniel Natera-de Benito
|Jan 01, 2025
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.Alba Segarra-Casas, Pablo Iruzubieta, Solange Kapetanovic
|Jul 27, 2024
An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy.Alba Segarra-Casas, Vicente A Yépez, German Demidov
|Dec 19, 2022
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.Alba Segarra-Casas, Cristina Domínguez-González, Aurelio Hernández-Laín
Pageof 1
Frequent Collaborators
3 joint publications
Lidia Gonzalez-Quereda
2 joint publications
Laura Llansó
1 joint publications
Cristina Domínguez-González
1 joint publications
Vicente A Yépez
1 joint publications
Julien Gagneur
1 joint publications
Robert Muni-Lofra
1 joint publications
Volker Straub
1 joint publications
Ana Töpf
1 joint publications
Pablo Marco-Moreno
1 joint publications
Daniel Natera-de Benito
