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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
The 14 kb human Duchenne muscular dystrophy (DMD) cDNA corresponding to a complete representation of the fetal skeletal muscle transcript has been cloned. The DMD transcript is formed by at least 60… Expand
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
The complete sequence of the human Duchenne muscular dystrophy (DMD) cDNA has been determined. The 3685 encoded amino acids of the protein product, dystrophin, can be separated into four domains. The… Expand
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
McLeod syndrome is an X-linked multisystem disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. We have assembled a cosmid contig of 360 kb that encompasses the… Expand
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in… Expand
FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder.
- C. Lai, D. Gerrelli, A. Monaco, S. Fisher, A. Copp
- Psychology, Medicine
- Brain : a journal of neurology
- 1 November 2003
Disruption of FOXP2, a gene encoding a forkhead-domain transcription factor, causes a severe developmental disorder of verbal communication, involving profound articulation deficits, accompanied by… Expand
Microinjection of neostigmine into the pontine reticular formation of cats enhances desynchronized sleep signs.
- H. A. Baghdoyan, A. Monaco, M. Rodrigo‐Angulo, F. Assens, R. McCarley, J. Hobson
- The Journal of pharmacology and experimental…
- 1 October 1984
Microinjection of the acetylcholinesterase inhibitor neostigmine into the dorsal pontine tegmentum of intact, freely moving cats produced significant changes in electrographic desynchronized (D)… Expand
The genetic lexicon of dyslexia.
- S. Paracchini, T. Scerri, A. Monaco
- Biology, Medicine
- Annual review of genomics and human genetics
- 21 September 2007
Reading abilities are acquired only through specific teaching and training. A significant proportion of children fail to achieve these skills despite normal intellectual abilities and an appropriate… Expand
Report of the sixth international workshop on X chromosome mapping 1995
Deciphering the genetic basis of speech and language disorders.
A significant number of individuals have unexplained difficulties with acquiring normal speech and language, despite adequate intelligence and environmental stimulation. Although developmental… Expand
Report of the committee on the genetic constitution of the X chromosome (Part 1 of 7)