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Browsing publications by Professor Jordi Diaz Manera

Newcastle AuthorsTitleYearFull text
Professor Jordi Diaz Manera
A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies2026
Dr Leonela Luce
Dr Goknur Kocak
Jose Verdú-Díaz
Professor Volker Straub
Dr Ana Topf
et al.		Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies2026
Carla Bolaño Diaz
Jose Verdú-Díaz
Dr Dan Hao
Meredith James
Professor Andrew Blamire
et al.		Identification of prognostic biomarkers in a large cohort of patients with LGMD R22026
Esther Fernández-Simón
James Clark
Panos Katsikis
Priyanka Mehra
Andrew Galloway
et al.		Impact of C4BPA on Muscle progenitor cell differentiation: insights for Duchenne muscular dystrophy treatment2026
Jose Verdú-Díaz
Professor Jordi Diaz Manera
Professor Giorgio Tasca
Muscle Imaging in Inclusion Body Myositis: Refinement of MRI Criteria and Insights Into Upper Body Involvement.2026
Dr James Clark
Professor Jordi Diaz Manera
Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease2026
Dr Marianela Schiava
Dr John Bourke
Professor Jordi Diaz Manera
Anna Johnson
Dr Maha Elseed
et al.		Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy2025
Professor Patrick Chinnery
Professor Jordi Diaz Manera
Professor Rita Horvath
Professor Volker Straub
Dr Christina Trainor
et al.		Correction to: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses (Nature Medicine, (2025), 31, 2, (478-489), 10.1038/s41591-024-03420-w)2025
Professor Jordi Diaz Manera
Corrigendum to “Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials” [Molecular Genetics and Metabolism, 143 (2024) 108608] (Molecular Genetics and Metabolism (2024) 143(4), (S109671922400492X), (10.1016/j.ymgme.2024.108608))2025
Professor Jordi Diaz Manera
Meredith James
Diagnosis, management and monitoring of patients with Pompe disease in the UK2025
Professor Jordi Diaz Manera
Professor Rita Horvath
Professor Hanns Lochmuller
Professor Volker Straub
Dr Christina Trainor
et al.		Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses2025
Mark Richardson
Karen Wong
Dr Maha Elseed
Dionne Moat
Dr Lizzie Harris
et al.		Levels of exercise exposure among people living with neuromuscular disorders: lessons learned from real-world data2025
Dr Marianela Schiava
Yolande Parkhurst
Dr Tuomo Polvikoski
Dr Pietro Riguzzi
Professor Giorgio Tasca
et al.		Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy2025
Dr Mary Neal
Carla Bolaño Diaz
Mark Richardson
Jassi Michell-Sodhi
Robert Muni Lofra
et al.		Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using 23Na-MRI in Dysferlinopathy and Healthy Controls2025
Dr Doaa Salman
Carla Bolaño Diaz
Robert Muni Lofra
Karen Wong
Dr Maha Elseed
et al.		Axial involvement as a prominent feature in SMPX-related distal myopathy2024
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