Search Results - "MacMillan, JC"

PAK3 mutation in nonsyndromic X-linked mental retardation by Allen, K M, Gleeson, J G, Bagrodia, S, Partington, M W, MacMillan, J C, Cerione, R A, Mulley, J C, Walsh, C A

“…Nonsyndromic X-linked mental retardation (MRX) syndromes are clinically homogeneous but genetically heterogeneous disorders, whose genetic bases are largely…”
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Association of a Notch 3 gene polymorphism with migraine susceptibility by Menon, S, Cox, H C, Kuwahata, M, Quinlan, S, MacMillan, J C, Haupt, L M, Lea, R A, Griffiths, L R

“…Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) shares common symptoms with migraine. Most CADASIL…”
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Late mitotic failure in mice lacking Sak, a polo-like kinase by Hudson, J.W., Kozarova, A., Cheung, P., Macmillan, J.C., Swallow, C.J., Cross, J.C., Dennis, J.W.

“…Polo-like kinases in yeast, flies, and mammals regulate key events in mitosis. Such events include spindle formation at G2/M, the anaphase-promoting complex…”
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Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats by Rubinsztein, D C, Leggo, J, Coles, R, Almqvist, E, Biancalana, V, Cassiman, J J, Chotai, K, Connarty, M, Crauford, D, Curtis, A, Curtis, D, Davidson, M J, Differ, A M, Dode, C, Dodge, A, Frontali, M, Ranen, N G, Stine, O C, Sherr, M, Abbott, M H, Franz, M L, Graham, C A, Harper, P S, Hedreen, J C, Hayden, M R

“…Abnormal CAG expansions in the IT-15 gene are associated with Huntington disease (HD). In the diagnostic setting it is necessary to define the limits of the…”
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Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease by Snell, Russell G, MacMillan, John C, Cheadle, Jeremy P, Fenton, Iain, Lazarou, Lazarus P, Davies, Peter, MacDonald, Marcy E, Gusella, James F, Harper, Peter S, Shaw, Duncan J

“…The molecular analysis of a specific CAG repeat sequence in the Huntington's disease gene in 440 Huntington's disease patients and 360 normal controls reveals…”
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Clinical spectrum of septic pulmonary embolism and infarction by MacMillan, J C, Milstein, S H, Samson, P C

“…Management of septic pulmonary embolism now suggests a predictability of the clinical course which often allows an early decision regarding the need for…”
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Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy by HARLEY, H. G, RUNDLE, S. A, MACMILLAN, J. C, MYRING, J, BROOK, J. D, CROW, S, REARDON, W, FENTON, I, SHAW, D. J, HARPER, P. S

“…A clinical and molecular analysis of 439 individuals affected with myotonic dystrophy, from 101 kindreds, has shown that the size of the unstable CTG repeat…”
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Telemedicine and clinical genetics: establishing a successful service by Gattas, M R, MacMillan, J C, Meinecke, I, Loane, M, Wootton, R

“…There is a surprising lack of published experience on the use of videoconferencing in clinical genetics. Patients were randomly allocated to either a…”
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An investigation of the 5-HT2C receptor gene as a migraine candidate gene by Johnson, Matthew P., Lea, Rod A., Curtain, Robert P., MacMillan, John C., Griffiths, Lyn R.

“…Migraine is a common complex disorder, currently classified into two main subtypes, migraine with aura (MA) and migraine without aura (MO). The strong…”
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Adult onset Krabbe disease may mimic motor neurone disease by Henderson, R.D, MacMillan, J.C, Bradfield, J.M

“…Krabbe’s disease (galactocerebrosidase deficiency) rarely presents in adults, usually with predominantly upper motor neurone clinical features. We report a…”
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Huntingtin Protein Colocalizes with Lesions of Neurodegenerative Diseases: An Investigation in Huntington's, Alzheimer's, and Pick's Diseases by Singhrao, S.K., Thomas, P., Wood, J.D., MacMillan, J.C., Neal, J.W., Harper, P.S., Jones, A.L.

“…Huntington's disease (HD) is an autosomal dominant neurodegenerative disease associated with a CAG trinucleotide repeat expansion in a large gene on chromosome…”
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Adaptation to being at-risk for Huntington's Disease and the availability of genetic testing: application of a stress and coping model by Pakenham, KI, Goodwin, VA, MacMillan, JC

“…This study examined the utility of a stress/coping model in explaining adaptation in two groups of people at-risk for Huntington's Disease (HD): those who have…”
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A population genomics overview of the neuronal nitric oxide synthase (nNOS) gene and its relationship to migraine susceptibility by Johnson, M P, Lea, R A, Colson, N J, Macmillan, J C, Griffiths, L R

“…The ubiquitous chemical messenger molecule nitric oxide (NO) has been implicated in a diverse range of biological activities including neurotransmission,…”
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Partial Characterisation of Murine Huntingtin and Apparent Variations in the Subcellular Localisation of Huntingtin in Human, Mouse and Rat Brain by Wood, Jonathan D., MacMillan, John C., Harper, Peter S., Lowenstein, Pedro R., Jones, A. Lesley

“…Huntington's disease (HD) is an inherited neurodegenerative disorder caused by the expansion of a CAG repeat in a gene coding for a protein of unknown…”
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Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population by Heritage, Mandy L., MacMillan, John C., Colliton, Raymond P., Genin, Anna, Spinner, Nancy B., Anderson, Gregory J.

“…Alagille syndrome (AGS) is an autosomal dominant disorder characterized by abnormal development of the liver, heart, skeleton, eye, and face. Mutations in the…”
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Serum TGF-beta 1 and TNF-alpha levels and cardiac fibrosis in experimental chronic renal failure by Fedulov, Alexey V, Ses, T P, Gavrisheva, N A, Rybakova, M G, Vassilyeva, J G, Tkachenko, S B, Kallner, A, MacMillan, J C

“…To characterize dynamics of changes of serum levels of TGF-beta1 and TNF-alpha in rats with cardiac fibrosis (CF) occurring during chronic renal failure (CRF),…”
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Clinical and genetic study of Friedreich ataxia in an Australian population by Delatycki, Martin B., Paris, Damien B.B.P., Gardner, R.J. McKinlay, Nicholson, Garth A., Nassif, Najah, Storey, Elsdon, MacMillan, John C., Collins, Veronica, Williamson, Robert, Forrest, Susan M.

“…Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encodes a 210‐amino acid protein called frataxin. An expansion…”
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Dentatorubral and pallidoluysian atrophy (DRPLA) Clinical and neuropathological findings in genetically confirmed north american and european pedigrees by Becher, M. W., Rubinsztein, D. C., Leggo, J., Wagster, M. V., Stine, O. C., Ranen, N. G., Franz, M. L., Abbott, M. H., Sherr, M., Macmillan, J. C., Barron, L., Porteous, M., Harper, P. S., Ross, C. A.

“…Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant disorder that clinically overlaps with Huntington's disease (HD) and manifests…”
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Molecular analysis and clinical correlations of the Huntington's disease mutation by MacMillan, J C, Snell, R G, Tyler, A, Houlihan, G D, Fenton, I, Cheadle, J P, Lazarou, L P, Shaw, D J, Harper, P S

“…The genetic mutation underlying Huntington's disease (HD) has been identified as an expansion and instability of a specific CAG repeat sequence in a gene…”
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Neuropathological diagnosis and CAG repeat expansion in Huntington's disease by Xuereb, J H, MacMillan, J C, Snell, R, Davies, P, Harper, P S

“…OBJECTIVE--To correlate the degree of CAG repeat expansion with neuropathological findings in Huntington's disease. METHODS--The CAG repeat polymorphism was…”
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