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Browsing publications by Professor Chiara Marini Bettolo

Newcastle AuthorsTitleYearFull text
Robert Muni Lofra
Dr Anna Mayhew
Professor Chiara Marini Bettolo
Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review2025
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
Robert Muni Lofra
Dr Anna Mayhew
Professor Chiara Marini Bettolo
Corrigendum to “Assessing disease progression in Spinal Muscular Atrophy, current gaps, and opportunities: a narrative review” [NMD, volume 49, article 105341] (Neuromuscular Disorders (2025) 49, (S0960896625000689), (10.1016/j.nmd.2025.105341))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 hypertrophy2025
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
Jose Verdú-Díaz
Carla Bolaño Diaz
Alejandro Gonzalez Chamorro
Sam Fitzsimmons
Dr Goknur Kocak
et al.		Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI2025
Dr Goknur Kocak
Dr Ana Topf
Professor Chiara Marini Bettolo
Dr Lizzie Harris
Professor Volker Straub
Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models2025
Alba Segarra Casas
Yolande Parkhurst
Robert Muni Lofra
Professor Chiara Marini Bettolo
Professor Volker Straub
et al.		An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy2024
Professor Chiara Marini Bettolo
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy2024
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
Dr Ana Topf
Dr Karin Engelhardt
Professor Sophie Hambleton
Professor Jordi Diaz Manera
Professor Chiara Marini Bettolo
et al.		Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses2024
Dr Alexandra Monceau
Esther Fernández-Simón
Dr Elisa Villalobos Villegas
James Clark
Panos Katsikis
et al.		Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression2024
Dr Anna Mayhew
Robert Muni Lofra
Professor Chiara Marini Bettolo
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study2024
Dr Ana Topf
Daniel Cox
Dr Valeria Di Leo
Professor Chiara Marini Bettolo
Professor Jordi Diaz Manera
et al.		Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy2024
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