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Robert Muni Lofra

Explore the profile of Robert Muni Lofra including associated specialties, affiliations and a list of published articles. Areas
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Articles 18
Citations 274
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Recent Articles
1.
Rodriguez-Torres R, Kanner C, Gay E, Uher D, Corbeil T, Coratti G, et al.
J Neuromuscul Dis . 2025 Feb; 12(1):22143602241313326. PMID: 39973458
Background: Fatigue and fatigability are commonly reported in spinal muscular atrophy (SMA). Physical fatigability, proposed to be the most relevant to SMA pathophysiology, encompasses performance-based and perceived physical fatigability (PPF)...
2.
Elseed M, Sampson J, Polvikoski T, Henderson M, Parkhurst Y, Bertoli M, et al.
Neuromuscul Disord . 2024 Dec; 47:105258. PMID: 39709903
Desmoid tumours, also known as aggressive fibromatosis, are rare tumours derived from mesenchymal stem cells, accounting for only 0.03 % of all tumours. While 85-90 % of cases are sporadic,...
3.
Schiava M, Lofra R, Bourke J, James M, Diaz-Manera J, Elseed M, et al.
Neuromuscul Disord . 2024 Jun; 41:8-19. PMID: 38865917
We investigated the comorbidities, associated factors, and the relationship between anthropometric measures and respiratory function and functional abilities in adults with Duchenne muscular dystrophy (DMD). This was a single-centre cross-sectional...
4.
Schiava M, Lofra R, Bourke J, Diaz-Manera J, James M, Elseed M, et al.
Eur J Neurol . 2024 Apr; 31(6):e16267. PMID: 38556893
Background And Purpose: The transition to adult services, and subsequent glucocorticoid management, is critical in adults with Duchenne muscular dystrophy. This study aims (1) to describe treatment, functional abilities, respiratory...
5.
Wolfe A, Stimpson G, Ramsey D, Coratti G, Dunaway Young S, Mayhew A, et al.
J Neuromuscul Dis . 2024 Mar; 11(3):665-677. PMID: 38427497
Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor function is assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS)....
6.
Rodriguez-Torres R, Uher D, Gay E, Coratti G, Dunaway Young S, Rohwer A, et al.
J Clin Med . 2023 May; 12(10). PMID: 37240564
Fatigue, a common symptom, together with the characteristic of performance fatigability, are well-documented features of SMA that impact quality of life and function. Importantly, establishing associations between multidimensional self-reported fatigue...
7.
Dunaway Young S, McGrattan K, Johnson E, van der Heul M, Duong T, Bakke M, et al.
J Neuromuscul Dis . 2023 May; 10(4):639-652. PMID: 37212069
Background: Progressive weakness can affect bulbar muscles in individuals with moderate to severe forms of spinal muscular atrophy (SMA). The paucity of standardized, valid bulbar assessments capturing clinically significant deficits...
8.
Stimpson G, Ramsey D, Wolfe A, Mayhew A, Scoto M, Baranello G, et al.
J Clin Med . 2023 Mar; 12(5). PMID: 36902710
The Revised Hammersmith Scale (RHS) is a 36-item ordinal scale developed using clinical expertise and sound psychometrics to investigate motor function in participants with Spinal Muscular Atrophy (SMA). In this...
9.
Mayhew A, James M, Moore U, Sutherland H, Jacobs M, Feng J, et al.
Front Neurol . 2022 Apr; 13:828525. PMID: 35359643
Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported....
10.
Wolfe A, Scoto M, Milev E, Lofra R, Abbott L, Wake R, et al.
Muscle Nerve . 2021 Aug; 64(5):545-551. PMID: 34432301
Introduction/aims: Spinal muscular atrophy (SMA) type III is a relatively mild form of SMA. Few studies have investigated the changes in both respiratory and upper limb function within this population...