[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 …
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 …
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 …
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 …
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 …
Targeted disruption of exon 52 in the mouse dystrophin gene induced muscle degeneration similar to that observed in Duchenne muscular dystrophy
E Araki, K Nakamura, K Nakao, S Kameya… - Biochemical and …, 1997 - Elsevier
Duchenne muscular dystrophy (DMD) is a degenerative disorder of the skeletal muscle in
human and is caused by mutations in the dystrophin gene. Themdxmouse is a spontaneous …
human and is caused by mutations in the dystrophin gene. Themdxmouse is a spontaneous …
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 …