Progress in therapy for Duchenne muscular dystrophy
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
progressive muscle weakness. It is caused by a variety of DMD gene pathogenic variations …