Publications by Robert Muni Lofra - ePrints

Browsing publications by Robert Muni Lofra.

Newcastle Authors	Title	Year
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
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 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 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
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 Claire Wood Dr Kieren Hollingsworth Edrina Bokaie Dr Eric Hughes Robert Muni Lofra et al.	Is ongoing testosterone required after pubertal induction in Duchenne muscular dystrophy?	2023
Robert Muni Lofra	Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities	2023
Dr Anna Mayhew Dionne Moat Robert Muni Lofra Jassi Sodhi	Adult North Star Network (ANSN): Consensus Document for Therapists Working with Adults with Duchenne Muscular Dystrophy (DMD) - Therapy Guidelines	2022
Meredith James Dr Michelle Eagle Robert Muni Lofra Dr ursula Moore Professor Michela Guglieri et al.	Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale	2022
Dr Anna Mayhew Meredith James Dr ursula Moore Helen Sutherland Robert Muni Lofra et al.	Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach	2022
Dr Anna Mayhew Dionne Moat Dr Michelle Eagle Meredith James Robert Muni Lofra et al.	Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy	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
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
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
Mark Richardson Dr Anna Mayhew Robert Muni Lofra Dr Lindsay Murphy Professor Volker Straub et al.	Prevalence of pain within limb girdle muscular dystrophy r9 and implications for other degenerative diseases	2021
Dr Claire Wood Dr Kieren Hollingsworth Dr Eric Hughes Dr Sadha Punniyakodi Robert Muni Lofra et al.	Pubertal induction in adolescents with DMD is associated with high satisfaction, gonadotropin release and increased muscle contractile surface area	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 Anna Mayhew Robert Muni Lofra Professor Chiara Marini Bettolo	Clinical Variability in Spinal Muscular Atrophy Type III	2020
Robert Muni Lofra Dr Andres Nascimento Osorio	Gain and loss of abilities in type II SMA: A 12-month natural history study	2020
Dr Anna Mayhew Robert Muni Lofra Professor Volker Straub	Revised upper limb module for spinal muscular atrophy: 12 month changes	2019
Dr Anna Mayhew Robert Muni Lofra	Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function	2018
Robert Muni Lofra Nicole O'Connor	The Guide to the 2017 International Standards of Care for SMA	2018
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