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Browsing publications by Dr Chiara Marini Bettolo

Newcastle AuthorsTitleYearFull text
Ben Porter
Dr Chiara Marini Bettolo
Characterising myotonic dystrophy (DM) and supporting national and international research projects: nine years of the UK DM patient registry2021
Dr Ana Topf
Professor Volker Straub
Dr Chiara Marini Bettolo
Dr Sabine Specht
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 10.1038/s41431-021-00901-1)2021
Dr Chiara Marini Bettolo
Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI2021
Robert Muni Lofra
Ruth Wake
Dr Anna Mayhew
Dr Chiara Marini Bettolo
Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation2021
Joanne Bullivant
Ben Porter
Dr Lindsay Murphy
Dr Chiara Marini Bettolo
Myotubular and centronuclear myopathy patient registry: Accelerating the pace of research and treatment2021
Dr Nathalie Doorenweerd
Dr Chiara Marini Bettolo
Dr Kieren Hollingsworth
Professor Volker Straub
Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patients2021
Ben Porter
Robert Muni Lofra
Dr Chiara Marini Bettolo
The UK FSHD Patient Registry: Linking Patients to National and Internationals Research Projects2021
Dr Albert Lim
Dr Grace McMacken
Francesca Rastelli
Dr Monika Olahova
Karen Baty
et al.
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features2020
Dr Anna Mayhew
Robert Muni Lofra
Dr Chiara Marini Bettolo
Clinical Variability in Spinal Muscular Atrophy Type III2020
Roberto Fernandez Torron
Dr Chiara Marini Bettolo
Dr Jana Haberlova
Professor Volker Straub
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging2020
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