Jordi Díaz-Manera

42PUBLICATIONS
250CO-AUTHORS
PharmacogenomicsMedical bacteriologyCell physiologyRehabilitationInfant and child health
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Publications (42)

|Jul 15, 2026
A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.

|May 01, 2026
Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies.

|Feb 27, 2026
Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.

Pietro Riguzzi, Emma Grover, Marianela Schiava

|Feb 18, 2026
Assessing the Relationship of Quality of Life With Functional Status in a Large Cohort of Adult Patients With Neuromuscular Disorders.

Karen S W Wong, Anando Sen, Jassi Michell-Sodhi

|Dec 26, 2025
Diagnosis, management and monitoring of patients with Pompe disease in the UK.

Jordi Díaz-Manera, Alexander Broomfield, James Davison

|Nov 03, 2025
Motor Function in Limb-Girdle Muscular Dystrophy R1/2A: Validation of Clinical Outcome Assessments for Clinical Care and Trial Readiness.

Meredith K James, Megan A Iammarino, Natalie F Reash

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Frequent Collaborators

10 joint publications

Volker Straub

5 joint publications

Marianela Schiava

4 joint publications

Conrad Weihl

4 joint publications

Michela Guglieri