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Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies
The results suggest that at least three distinct mammalian genes function within a convergent post-translational processing pathway during the biosynthesis of dystroglycan, and that abnormal dystoglycan–ligand interactions underlie the pathogenic mechanism of muscular dystrophy with brain abnormalities. Expand
The Smith-Lemli-Opitz syndrome.
The recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with regard to the hedgehog embryonic signalling pathway and its effects on the expression of homeobox genes, has provided an explanation for the abnormal morphogenesis in the syndrome. Expand
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
- J. Johnston, R. Kelley, +6 authors L. Biesecker
- Biology, Medicine
- American journal of human genetics
- 1 October 2000
It is concluded that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1, and a stop codon in exon 11, predicted to truncate the protein at amino acid 179, which segregates with the disease. Expand
Diagnosis and treatment of maple syrup disease: a study of 36 patients.
OBJECTIVE To evaluate an approach to the diagnosis and treatment of maple syrup disease (MSD). METHODS Family histories and molecular testing for the Y393N mutation of the E1alpha subunit of the… Expand
Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis
A disturbance of mitochondrial energy production as an underlying pathophysiological mechanism in a subset of individuals with autism is suggested. Expand
A neural correlate of response bias in monkey caudate nucleus
placed 102 seed traps at 12 levels along a 45-m high tower, with the three upper levels above the tallest trees (33 m). Traps were checked at weekly or biweekly intervals. We surveyed all trees in a… Expand
Mutations in the gene encoding 3β-hydroxysteroid-Δ 8,Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome
The results indicate that defects in sterol-Δ8-isomerase cause CDPX2 and suggest a role for sterols in bone development and a functional significance of two missense alleles. Expand
X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria.
Although the cause of the organic aciduria remains obscure, the constellation of biochemical and clinical abnormalities forms a distinct syndrome that may be a relatively common cause of dilated cardiomyopathy or neutropenia in boys during infancy and childhood. Expand
Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
The observed spectrum of clinical manifestations resulting from this heteroplasmic mtDNA mutation implies that mtDNA disease may be much more prevalent than previously anticipated. Expand
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.
- E. Tierney, N. Nwokoro, F. Porter, L. Freund, J. Ghuman, R. Kelley
- American journal of medical genetics
- 15 January 2001
SLOS is a metabolic disorder that can be associated with autism and other behavioral characteristics that define a distinctive and diagnostically important behavioral disorder. Expand