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Browsing publications by Dr Chiara Marini Bettolo.

Newcastle AuthorsTitleYearFull text
Dr Chiara Marini Bettolo
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy2024
Dr Chiara Marini Bettolo
Robert Muni Lofra
254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 – 30 January 20222023
Dr Anna Mayhew
Robert Muni Lofra
Dr Chiara Marini Bettolo
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants2023
Dr Marianela Schiava
Professor Giorgio Tasca
Dr Chiara Marini Bettolo
Professor Michela Guglieri
Professor Volker Straub
et al.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis2023
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 correlations2023
Dr Chiara Marini Bettolo
Dr John Bourke
Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure2023
Professor Giorgio Tasca
Dr Chiara Marini Bettolo
Dr Ana Topf
Professor Michela Guglieri
Professor Volker Straub
et al.
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis2023
Andrew Galloway
Daniel Cox
Dr Ana Topf
Heather Hilsden
Professor Michela Guglieri
et al.
The John Walton Muscular Dystrophy Research Centre Biobank2023
Joanne Bullivant
Dr Anando Sen
Jess Page
Dionne Moat
Dr Chiara Marini Bettolo
et al.
The Myotubular and Centronuclear Myopathy Patient Registry: A multifunctional tool for translational research2023
Dr Chiara Marini Bettolo
Professor Michael Hanna
Emma Matthews
Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity2022
Dr Chiara Marini Bettolo
Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis2022
Robert Muni Lofra
Dr Lindsay Murphy
Dr Chiara Marini Bettolo
Dr Anna Mayhew
Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK2022
Dr Anna Mayhew
Professor Volker Straub
Dr Chiara Marini Bettolo
Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement2022
Meredith James
Robert Muni Lofra
Dionne Moat
Mark Richardson
Dr Michelle Eagle
et al.
Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies2022
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
Professor Giorgio Tasca
et al.
Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging2020
Professor Giorgio Tasca
Dr Jana Haberlova
Professor Volker Straub
Dr Chiara Marini Bettolo
Professor Jordi Diaz Manera
et al.
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)2020
Phillip Cammish
Dr Teresinha Evangelista
Professor Volker Straub
Dr Chiara Marini Bettolo
Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms2020
Dr Chiara Marini Bettolo
Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 12019
Professor Giorgio Tasca
Dr Chiara Marini Bettolo
Professor Volker Straub
Professor Jordi Diaz Manera
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy2019
Dr Chiara Marini Bettolo
Dr Nikoletta Nikolenko
Professor Hanns Lochmuller
Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries2019
Ben Porter
Phillip Cammish
Joseph Orrell
Emma Heslop
Dr Chiara Marini Bettolo
et al.
The UK FSHD Patient Registry: A Key Tool in the Facilitation of Clinical Research2019
Ben Porter
Phillip Cammish
Emma Heslop
Dr Chiara Marini Bettolo
The UK Myotonic Dystrophy Patient Registry: A Key Tool in the Facilitation of Clinical Research2019
Dr Lizzie Harris
Dr Chiara Marini Bettolo
Dr Ana Topf
Dr Rita Barresi
Dr Tuomo Polvikoski
et al.
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes2018
Dr Marta Bertoli
Dr Chiara Marini Bettolo
Professor Hanns Lochmuller
Professor Volker Straub
Emerita Professor Katherine Bushby
et al.
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy2018
Professor Giorgio Tasca
Professor Jordi Diaz Manera
Dr Chiara Marini Bettolo
Professor Volker Straub
MRI in sarcoglycanopathies: a large international cohort study2018
Lindsay Wood
Dr Nikoletta Nikolenko
Dr Chiara Marini Bettolo
Professor Hanns Lochmuller
Survival patterns and cancer determinants in families with myotonic dystrophy type 12018
Dr Lizzie Harris
Dr Umar Burki
Dr Chiara Marini Bettolo
Dr Marta Bertoli
Dr Teresinha Evangelista
et al.
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains2017
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Dr Debbie Hicks
Dr Anna Porter
et al.
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy2017
Dr Andreas Roos
Daniel Cox
Dr Chiara Marini Bettolo
Dr Rita Barresi
Dr Richard Charlton
et al.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment2017
Dr Lizzie Harris
Dr Rita Barresi
Dr Chiara Marini Bettolo
Dr Ana Topf
Professor Volker Straub
et al.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion2017
Dr Oksana Pogoryelova
Professor Michela Guglieri
Dr Chiara Marini Bettolo
Professor Volker Straub
Dr Teresinha Evangelista
et al.
Reduced serum myostatin concentrations associated with genetic muscle disease progression2017
Libby Wood
Dr Chiara Marini Bettolo
Professor Michela Guglieri
Dr Grace McMacken
Dr Anna Mayhew
et al.
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy2017
Libby Wood
Dr Isabell Cordts
Dr Jose Atalaia
Dr Chiara Marini Bettolo
Professor Volker Straub
et al.
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research2017
Dr Nikoletta Nikolenko
Dr Jose Atalaia
Dr Chiara Marini Bettolo
Professor Volker Straub
Professor Hanns Lochmuller
et al.
The UK Myotonic Dystrophy Patient Registry2016
Dr Henriette van Ruiten
Dr Chiara Marini Bettolo
Professor Timothy Cheetham
Dr Michelle Eagle
Professor Hanns Lochmuller
et al.
Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England2016