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 …

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 …

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 …

Accelerated evolution of conserved noncoding sequences in humans

S Prabhakar, JP Noonan, S Paabo, EM Rubin - science, 2006 - science.org
Changes in gene regulation likely influenced the profound phenotypic divergence of
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 …

Brain function in Duchenne muscular dystrophy

JL Anderson, SI Head, C Rae, JW Morley - Brain, 2002 - academic.oup.com
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 …

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 …

[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 …

[HTML][HTML] DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

J Juan-Mateu, L Gonzalez-Quereda, MJ Rodriguez… - PloS one, 2015 - journals.plos.org
Recent advances in molecular therapies for Duchenne muscular dystrophy (DMD) require
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 …