Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy
JW McGreevy, CH Hakim… - Disease models & …, 2015 - journals.biologists.com
Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disorder. It is caused
by loss-of-function mutations in the dystrophin gene. Currently, there is no cure. A highly …
by loss-of-function mutations in the dystrophin gene. Currently, there is no cure. A highly …
Dystrophin and mutations: one gene, several proteins, multiple phenotypes
F Muntoni, S Torelli, A Ferlini - The Lancet Neurology, 2003 - thelancet.com
A large and complex gene on the X chromosome encodes dystrophin. Many mutations have
been described in this gene, most of which affect the expression of the muscle isoform, the …
been described in this gene, most of which affect the expression of the muscle isoform, the …
Cognitive and neurobehavioral profile in boys with Duchenne muscular dystrophy
R Banihani, S Smile, G Yoon, A Dupuis… - Journal of child …, 2015 - journals.sagepub.com
Duchenne muscular dystrophy is a progressive neuromuscular condition that has a high rate
of cognitive and learning disabilities as well as neurobehavioral disorders, some of which …
of cognitive and learning disabilities as well as neurobehavioral disorders, some of which …
Accelerated evolution of conserved noncoding sequences in humans
Changes in gene regulation likely influenced the profound phenotypic divergence of
humans from other mammals, but the extent of adaptive substitution in human regulatory …
humans from other mammals, but the extent of adaptive substitution in human regulatory …
[HTML][HTML] Dystrophin Dp71 and the neuropathophysiology of Duchenne muscular dystrophy
M Naidoo, K Anthony - Molecular Neurobiology, 2020 - Springer
Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene
that prevent the body-wide translation of its protein product, dystrophin. Besides a severe …
that prevent the body-wide translation of its protein product, dystrophin. Besides a severe …
Brain function in Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is the second most commonly occurring genetically
inherited disease in humans. It is an X‐linked condition that affects approximately one in …
inherited disease in humans. It is an X‐linked condition that affects approximately one in …
Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients
S Cotton, NJ Voudouris… - … medicine and child …, 2001 - cambridge.org
Intelligence and Duchenne muscular dystrophy: Full-Scale, Verbal, and Performance
intelligence quotients Page 1 Developmental Medicine & Child Neurology 2001, 43: 497–501 …
intelligence quotients Page 1 Developmental Medicine & Child Neurology 2001, 43: 497–501 …
[图书][B] Disorders of voluntary muscle
G Karpati, D Hilton-Jones, RC Griggs - 2001 - books.google.com
The seventh edition of Disorders of Voluntary Muscle has been rewritten and redesigned
with the needs of the clinician and clinical scientist in mind. It contains up-to-date information …
with the needs of the clinician and clinical scientist in mind. It contains up-to-date information …
[HTML][HTML] DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations
Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD) require
precise genetic diagnosis because most therapeutic strategies are mutation-specific. To …
precise genetic diagnosis because most therapeutic strategies are mutation-specific. To …
Neuropsychological and neurobehavioral functioning in Duchenne muscular dystrophy: a review
WM Snow, JE Anderson, LS Jakobson - Neuroscience & Biobehavioral …, 2013 - Elsevier
Duchenne muscular dystrophy (DMD) is a genetic condition affecting predominantly boys
that is characterized by fatal muscle weakness. While there is no cure, recent therapeutic …
that is characterized by fatal muscle weakness. While there is no cure, recent therapeutic …