Progress in therapy for Duchenne muscular dystrophy

RJ Fairclough, A Bareja, KE Davies - Experimental physiology, 2011 - Wiley Online Library
Duchenne muscular dystrophy is a devastating muscular dystrophy of childhood. Mutations
in the dystrophin gene destroy the link between the internal muscle filaments and the …

Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy

K Wingeier, E Giger, S Strozzi, R Kreis… - Journal of clinical …, 2011 - Elsevier
Mutations in the dystrophin gene have long been recognised as a cause of mental
retardation. However, for reasons that are unclear, some boys with dystrophin mutations do …

Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation

M Pane, ME Lombardo, P Alfieri, A D'Amico… - The Journal of …, 2012 - Elsevier
OBJECTIVES: To assess attention deficit hyperactivity disorder (ADHD) in boys affected by
Duchenne muscular dystrophy (DMD) and to explore the relationship with cognitive abilities …

Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy

LVB Nicholson, MA Johnson, D Gardner-Medwin… - Acta …, 1990 - Springer
This report documents the results of an integrated biochemical and immunocytochemical
investigation into the expression of dystrophin (the protein product of the Duchenne …

[引用][C] Dystrophin and its isoforms

HM Sadoulet‐Puccio, LM Kunkel - Brain Pathology, 1996 - Wiley Online Library
Duchenne muscular dystrophy (DMD) is a common lethal neuromuscular genetic disease,
affecting nearly 1 in 4000 male births worldwide (29) The disorder in one third of these …

The D2.mdx mouse as a preclinical model of the skeletal muscle pathology associated with Duchenne muscular dystrophy

DW Hammers, CC Hart, MK Matheny, LA Wright… - Scientific reports, 2020 - nature.com
Duchenne muscular dystrophy (DMD) is an X-linked, lethal muscle degenerative disease
caused by loss of dystrophin protein. DMD has no cure and few treatment options …

Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle

TS Khurana, SC Watkins, P Chafey, J Chelly… - Neuromuscular …, 1991 - Elsevier
Abstract Dystrophin Related Protein is the recently identified protein product of a large
autosomal transcript, showing significant similarity to dystrophin at the carboxyl terminus …

The roles of the dystrophin-associated glycoprotein complex at the synapse

GSK Pilgram, S Potikanond, RA Baines… - Molecular …, 2010 - Springer
Duchenne muscular dystrophy is caused by mutations in the dystrophin gene and is
characterized by progressive muscle wasting. A number of Duchenne patients also present …

Reduced cerebral gray matter and altered white matter in boys with D uchenne muscular dystrophy

N Doorenweerd, CS Straathof, EM Dumas… - Annals of …, 2014 - Wiley Online Library
Objective Duchenne muscular dystrophy (DMD) is characterized by progressive muscle
weakness caused by DMD gene mutations leading to absence of the full‐length dystrophin …

The DMD gene and therapeutic approaches to restore dystrophin

F Fortunato, M Farnè, A Ferlini - Neuromuscular Disorders, 2021 - Elsevier
Duchenne muscular dystrophy (DMD) is a severe X-linked disease characterized by
progressive muscle weakness. It is caused by a variety of DMD gene pathogenic variations …