Duchenne muscular dystrophy (DMD), the most severe form of dystrophinopathy, is quite
homogeneous with regards to its causative biochemical defect, ie, complete dystrophin …

Patients with Duchenne muscular dystrophy (DMD) show clinically relevant phenotypic
variability, despite sharing the same primary biochemical defect (dystrophin deficiency) …

Objective We studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of
ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort. Methods We …

Objective Respiratory insufficiency is a major complication of Duchenne muscular dystrophy
(DMD). Its progression shows considerable interindividual variability, which has been less …

Objective: To test the effect of the single nucleotide polymorphism− 66 T> G (rs28357094) in
the osteopontin gene (SPP1) on functional measures over 12 months in Duchenne muscular …

Objective: During the transitional phase (ambulatory to non-ambulatory), synergies
characterize the evolution of Duchenne muscular dystrophy (DMD). This study was …

The semantic variant of primary progressive aphasia (svPPA) is a clinical syndrome
characterized by neurodegeneration and progressive loss of semantic knowledge. Unlike …

The utrophin protein is upregulated in DMD and its expression shows a positive correlation
with age at biopsy and time to becoming wheelchair bound. 3 It has been shown that this …

The skeletal muscle is a highly organized tissue, which comprises muscle fibres and
connective tissue. Each muscle fibre is a multinucleated post-mitotic cell, surrounded by the …

Objective: We studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of
ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort. Methods …