Search Results - "MacDonald, M. E"
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Rethinking Oral Health in Aging: Ecosocial Theory and Intersectionality
Published in Journal of dental research (01-07-2023)“…Poor oral health affects the health and well-being of older adults in many ways. Despite years of international research investigating poor oral health among…”
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2
Obstetric conditions and the placental weight ratio
Published in Placenta (Eastbourne) (01-08-2014)“…Abstract Introduction To elucidate how obstetric conditions are associated with atypical placental weight ratios (PWR)s in infants born: (a) ≥37 weeks…”
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Factors associated with HD CAG repeat instability in Huntington disease
Published in Journal of medical genetics (01-11-2007)“…Background:The Huntington disease (HD) CAG repeat exhibits dramatic instability when transmitted to subsequent generations. The instability of the HD disease…”
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Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease
Published in Science (American Association for the Advancement of Science) (20-07-2001)“…Huntingtin is a 350-kilodalton protein of unknown function that is mutated in Huntington's disease (HD), a neurodegenerative disorder. The mutant protein is…”
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5
Oral health-related stigma: Describing and defining a ubiquitous phenomenon
Published in Community dentistry and oral epidemiology (01-12-2023)“…This paper is the fourth of a series of narrative reviews to critically rethink underexplored concepts in oral health research. The series commenced with an…”
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The quantity and quality of the social networks of young people with early psychosis compared with closely matched controls
Published in Schizophrenia research (30-11-2000)“…This study compares the social networks and perceived social support of 26 people with early psychosis and 26 people without a mental illness. The two groups…”
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Huntingtin Interacts with a Family of WW Domain Proteins
Published in Human molecular genetics (01-09-1998)“…The hallmark neuropathology of Huntington's disease (HD) is due to elongation of a polyglutamine segment in huntingtin, a novel ∼350 kDa protein of unknown…”
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Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1
Published in Journal of medical genetics (01-08-2005)“…Hybridisation of labelled fragments was done in the presence of excess herring sperm competitor DNA, and hybridised membranes were washed at 60°C with 0.15 M…”
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CAG repeat number governs the development rate of pathology in Huntington's disease
Published in Annals of neurology (01-05-1997)“…We compared the number of CAG repeats, the age at death, and the severity of neuropathology in 89 Huntington's disease brains. We found a linear correlation…”
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Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion
Published in Nature genetics (01-12-1997)“…Huntington's disease (HD) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion that lengthens a glutamine segment in the novel…”
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11
Evidence for the GluR6 gene associated with younger onset age of Huntington's disease
Published in Neurology (12-10-1999)“…Huntington's disease (HD) is attributed to a triplet CAG repeat mutation, and about half of the variation in onset age can be explained by the size of the…”
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Length-Dependent Gametic CAG Repeat Instability in the Huntington's Disease Knock-in Mouse
Published in Human molecular genetics (01-01-1999)“…The CAG repeats in the human Huntington's disease (HD) gene exhibit striking length-dependent intergenerational instability, typically small size increases or…”
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Herbicide exposure modifies GSTP1 haplotype association to parkinson onset age : The GenePD study
Published in Neurology (26-12-2006)“…Polymorphisms in the glutathione S-transferase pi gene (GSTP1), encoding GSTP1-1, a detoxification enzyme, may increase the risk of Parkinson disease (PD) with…”
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14
Clinical and genetic heterogeneity in benign hereditary chorea
Published in Neurology (27-08-2002)“…Benign hereditary chorea (BHC) is an autosomal dominant disorder that can be distinguished from Huntington disease by its early onset, stable or only slightly…”
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Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease
Published in American journal of medical genetics. Part A (15-06-2003)“…Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. Past studies have…”
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Reduced Penetrance of the Huntington's Disease Mutation
Published in Human molecular genetics (01-05-1997)“…Controversy persists concerning the significance of Huntington disease (HD) alleles in the 36–39 repeat range. Although some clinically affected persons have…”
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De novo expansion of a (CAG) n repeat in sporadic Huntington's disease
Published in Nature genetics (01-10-1993)“…Huntington's disease (HD) chromosomes contain an expanded unstable (CAG)n repeat in chromosome 4p16.3. We have examined nine families with potential de novo…”
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Neocortical neurons cultured from mice with expanded cag repeats in the huntingtin gene: unaltered vulnerability to excitotoxins and other insults
Published in Neuroscience (01-01-2003)“…Glutamate-mediated excitotoxicity might contribute to the pathogenesis of Huntington's disease and other polyglutamine repeat disorders. We used murine…”
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Huntingtin's WW domain partners in Huntington's disease post-mortem brain fulfill genetic criteria for direct involvement in Huntington's disease pathogenesis
Published in Human molecular genetics (01-09-2000)“…An elongated glutamine tract in mutant huntingtin initiates Huntington's disease (HD) pathogenesis via a novel structural property that displays neuronal…”
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Genome-wide scan for Parkinson's disease: The genePD Study
Published in Neurology (25-09-2001)“…A genome-wide scan for idiopathic PD in a sample of 113 PD-affected sibling pairs is reported. Suggestive evidence for linkage was found for chromosomes 1 (214…”
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