Publications by Dr Marianela Schiava - ePrints

Browsing publications by Dr Marianela Schiava.

Newcastle Authors	Title	Year
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 dystrophy	2025
Dr Maha Elseed Dr James Sampson Dr Tuomo Polvikoski Matt Henderson Yolande Parkhurst et al.	Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy	2025
Dr Marianela Schiava Professor Jordi Diaz Manera	Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry	2024
Catherine Turner Dr John Bourke Meredith James Jassi Sodhi Dr Marianela Schiava et al.	Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice	2024
Dr Marianela Schiava Robert Muni Lofra Dr John Bourke Meredith James Professor Jordi Diaz Manera et al.	Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy	2024
Dr Marianela Schiava	Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1	2024
Dr Marianela Schiava Dr Anna Mayhew Professor Michela Guglieri	Factors Associated With Early Motor Function Trajectories in DMD After Glucocorticoid Initiation: Post Hoc Analysis of the FOR-DMD Trial	2024
Dr Marianela Schiava Dr John Bourke Meredith James Dr Maha Elseed Dr Monika Malinova et al.	Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids	2024
Professor Michela Guglieri Laura Behar Dr Marianela Schiava Meredith James	Reductions in functional muscle mass and ability to ambulate in Duchenne muscular dystrophy from ages 4 to 24 years	2024
Dr Marianela Schiava Dr Anna Mayhew Professor Michela Guglieri	Reference curves of motor function outcomes in young steroid-naïve males with Duchenne muscular dystrophy	2024
Esther Fernández-Simón Rasya Gokul Nath Adrienne Unsworth Dr Marianela Schiava Professor Giorgio Tasca et al.	Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy	2024
Dr Marianela Schiava Jose Verdú-Díaz Professor Giorgio Tasca Professor Volker Straub Professor Chiara Marini Bettolo et al.	Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis	2023
Esther Fernández-Simón Patricia Pinol Jurado Dr Elisa Villalobos Villegas Dr Alexandra Monceau Dr Marianela Schiava et al.	Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations	2023
Dr Ursula Moore Esther Fernández-Simón Dr Marianela Schiava Daniel Cox Meredith James et al.	Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy	2023
Dr John Bourke Catherine Turner Dr Marianela Schiava Professor Michela Guglieri	Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations	2022
Dr Marianela Schiava Dr Henriette van Ruiten Dr Anna Mayhew Emerita Professor Elaine McColl Dr Tracey Willis et al.	Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy.	2022