Publications by Professor Chiara Marini Bettolo - ePrints

Browsing publications by Professor Chiara Marini Bettolo.

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
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 Dystrophy	2024
Professor Chiara Marini Bettolo	Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy	2024
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 myopathy	2024
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 diagnoses	2024
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 progression	2024
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 study	2024
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 myopathy	2024
Dr Anna Mayhew Robert Muni Lofra Professor Chiara Marini Bettolo	Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3	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
Patricia Pinol Jurado Jose Verdú-Díaz Esther Fernández-Simón Dr Conor Lawless Dr Amy Vincent et al.	Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration	2024
Professor Chiara Marini Bettolo Helen Walker	Increased frequency of repeat expansion mutations across different populations	2024
Dr Ana Topf Dr Jennifer Duff Dr Lizzie Harris Professor Chiara Marini Bettolo Professor Volker Straub et al.	Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement	2024
Professor Chiara Marini Bettolo	Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain	2024
Joanne Bullivant Dr Anando Sen Jess Page Dionne Moat Professor Chiara Marini Bettolo et al.	The Myotubular and Centronuclear Myopathy Patient Registry: A multifunctional tool for translational research	2024
Professor 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 2022	2023
Dr Anna Mayhew Robert Muni Lofra Professor Chiara Marini Bettolo	2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants	2023
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
Professor 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 failure	2023
Professor Giorgio Tasca Professor 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 diagnosis	2023
Andrew Galloway Daniel Cox Dr Ana Topf Heather Hilsden Professor Michela Guglieri et al.	The John Walton Muscular Dystrophy Research Centre Biobank	2023
Professor Chiara Marini Bettolo Professor Michael Hanna Emma Matthews	Andersen-Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity	2022
Professor Chiara Marini Bettolo	Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) mimicking idiopathic inflammatory myopathy: key points to prevent misdiagnosis	2022
Robert Muni Lofra Dr Lindsay Murphy Professor Chiara Marini Bettolo Dr Anna Mayhew	Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK	2022
Dr Anna Mayhew Professor Volker Straub Professor Chiara Marini Bettolo	Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement	2022
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 Dystrophies	2022
Ben Porter Robert Muni Lofra Professor Chiara Marini Bettolo	Characterising FSHD and supporting national and international research projects: eight years of the UK FSHD Patient Registry	2021
Ben Porter Professor Chiara Marini Bettolo	Characterising myotonic dystrophy (DM) and supporting national and international research projects: nine years of the UK DM patient registry	2021
Dr Ana Topf Professor Volker Straub Professor 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
Professor Chiara Marini Bettolo	Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI	2021
Robert Muni Lofra Ruth Wake Dr Anna Mayhew Professor Chiara Marini Bettolo	Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation	2021
Joanne Bullivant Ben Porter Dr Lindsay Murphy Professor Chiara Marini Bettolo	Myotubular and centronuclear myopathy patient registry: Accelerating the pace of research and treatment	2021
Dr Nathalie Doorenweerd Professor Chiara Marini Bettolo Dr Kieren Hollingsworth Professor Volker Straub	Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patients	2021
Ben Porter Robert Muni Lofra Professor Chiara Marini Bettolo	The UK FSHD Patient Registry: Linking Patients to National and Internationals Research Projects	2021
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 features	2020
Dr Anna Mayhew Robert Muni Lofra Professor Chiara Marini Bettolo	Clinical Variability in Spinal Muscular Atrophy Type III	2020
Roberto Fernandez Torron Professor 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 imaging	2020
Professor Giorgio Tasca Dr Jana Haberlova Professor Volker Straub Professor 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 Professor Chiara Marini Bettolo	Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms	2020
Professor Chiara Marini Bettolo	Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1	2019
Professor Giorgio Tasca Professor Chiara Marini Bettolo Professor Volker Straub Professor Jordi Diaz Manera	Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy	2019
Professor 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 Registries	2019
Ben Porter Phillip Cammish Joseph Orrell Emma Heslop Professor Chiara Marini Bettolo et al.	The UK FSHD Patient Registry: A Key Tool in the Facilitation of Clinical Research	2019
Ben Porter Phillip Cammish Emma Heslop Professor Chiara Marini Bettolo	The UK Myotonic Dystrophy Patient Registry: A Key Tool in the Facilitation of Clinical Research	2019
Dr Lizzie Harris Professor 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 phenotypes	2018
Dr Marta Bertoli Professor 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 dystrophy	2018
Professor Giorgio Tasca Professor Jordi Diaz Manera Professor Chiara Marini Bettolo Professor Volker Straub	MRI in sarcoglycanopathies: a large international cohort study	2018
Lindsay Wood Dr Nikoletta Nikolenko Professor Chiara Marini Bettolo Professor Hanns Lochmuller	Survival patterns and cancer determinants in families with myotonic dystrophy type 1	2018
Dr Lizzie Harris Dr Umar Burki Professor Chiara Marini Bettolo Dr Marta Bertoli Dr Teresinha Evangelista et al.	Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains	2017
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 Dystrophy	2017
Dr Andreas Roos Daniel Cox Professor 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 Impairment	2017
Dr Lizzie Harris Dr Rita Barresi Professor Chiara Marini Bettolo Dr Ana Topf Professor Volker Straub et al.	Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion	2017
Dr Oksana Pogoryelova Professor Michela Guglieri Professor Chiara Marini Bettolo Professor Volker Straub Dr Teresinha Evangelista et al.	Reduced serum myostatin concentrations associated with genetic muscle disease progression	2017
Libby Wood Professor 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 dystrophy	2017
Libby Wood Dr Isabell Cordts Dr Jose Atalaia Professor Chiara Marini Bettolo Professor Volker Straub et al.	The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research	2017
Dr Nikoletta Nikolenko Dr Jose Atalaia Professor Chiara Marini Bettolo Professor Volker Straub Professor Hanns Lochmuller et al.	The UK Myotonic Dystrophy Patient Registry	2016
Dr Henriette van Ruiten Professor 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 England	2016