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List of works by Russell G. Snell

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Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

scientific article published in August 1993
Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the bovine DGAT1 gene with major effect on milk yield and composition

scientific article published in February 2002
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

scientific article
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

scientific article
Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis

scientific article (publication date: November 1997)
Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

scientific article (publication date: 4 July 2003)
An ovine transgenic Huntington's disease model

scientific article
Separation of chromosomal DNA molecules from C.albicans by pulsed field gel electrophoresis

scientific article
Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)

scientific article (publication date: February 2000)
TATA-binding protein in neurodegenerative disease.

scientific article
Amyloid-like inclusions in Huntington's disease.

scientific article published in January 2000
Molecular analysis and clinical correlations of the Huntington's disease mutation

scientific article published in October 1993
Sequence-based Association Analysis Reveals an MGST1 eQTL with Pleiotropic Effects on Bovine Milk Composition

scientific article published on 5 May 2016
Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia

scientific article published on September 1, 2001
Functionally reciprocal mutations of the prolactin signalling pathway define hairy and slick cattle

scientific article
Genetic variation in PLAG1 associates with early life body weight and peripubertal weight and growth in Bos taurus

scientific article published on 7 December 2011
Early and progressive circadian abnormalities in Huntington's disease sheep are unmasked by social environment

scientific article published on 31 January 2014
Insoluble TATA-binding protein accumulation in Huntington's disease cortex.

scientific article published in December 2002
Association of gephyrin and glycine receptors in the human brainstem and spinal cord: an immunohistochemical analysis.

scientific article published in January 2003
Late-onset Huntington's disease: a clinical and molecular study

scientific article published in November 1994
Expression variants of the lipogenic AGPAT6 gene affect diverse milk composition phenotypes in Bos taurus

scientific article
Chromosomal variations in Candida albicans

scientific article published on April 1987
Rapid RNA analysis of individual Caenorhabditis elegans

scientific article published on 7 February 2015
Effects of reduced frequency of milk removal on gene expression in the bovine mammary gland.

scientific article
Distribution of gephyrin in the human brain: an immunohistochemical analysis

scientific article (publication date: 2003)
Further molecular characterisation of the OVT73 transgenic sheep model of Huntington's disease identifies cortical aggregates

scientific article published in January 2013
Metabolic disruption identified in the Huntington's disease transgenic sheep model

scientific article published on 11 February 2016
Identification of elevated urea as a severe, ubiquitous metabolic defect in the brain of patients with Huntington's disease.

scientific article published on 29 October 2015
Proteomic Analysis of Microsomes from Lactating Bovine Mammary Gland

article
Functional confirmation of PLAG1 as the candidate causative gene underlying major pleiotropic effects on body weight and milk characteristics.

scientific article
Profiling the metabolic proteome of bovine mammary tissue

scientific article
Cloning of the alpha-adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification

scientific article published on November 1, 1992
Metabolic proteomics of the liver and mammary gland during lactation

scientific article published on 24 April 2012
Molecular investigation of TBP allele length: a SCA17 cellular model and population study

scientific article published on June 2003
Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases

scientific article published on 11 December 2017
A mutation in bovine keratin 5 causing epidermolysis bullosa simplex, transmitted by a mosaic sire

scientific article published in June 2005
TBP, a polyglutamine tract containing protein, accumulates in Alzheimer's disease.

scientific article
Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder.

scientific article published on 26 October 2015
Metabolite mapping reveals severe widespread perturbation of multiple metabolic processes in Huntington's disease human brain

scientific article published on 3 June 2016
Phenotypic population screen identifies a new mutation in bovine DGAT1 responsible for unsaturated milk fat

scientific article
Reducing milking frequency during nutrient restriction has no effect on the hepatic transcriptome of lactating dairy cattle

scientific article published on 08 October 2013
Estimation of genetic and crossbreeding parameters of fatty acid concentrations in milk fat predicted by mid-infrared spectroscopy in New Zealand dairy cattle.

scientific article
Rapid, quantitative analysis of 3'- and 6'-sialyllactose in milk by flow-injection analysis-mass spectrometry: screening of milks for naturally elevated sialyllactose concentration

scientific article published on 17 October 2013
A triad of highly divergent polymeric immunoglobulin receptor (PIGR) haplotypes with major effect on IgA concentration in bovine milk

scientific article (publication date: 2013)
A splice variant of the TATA-box binding protein encoding the polyglutamine-containing N-terminal domain that accumulates in Alzheimer's disease

scientific article published on 12 March 2009
Expression of key lipid metabolism genes in adipose tissue is not altered by once-daily milking during a feed restriction of grazing dairy cows.

scientific article
Potential molecular consequences of transgene integration: The R6/2 mouse example

scientific article published on 25 January 2017
Non-replication of genome-wide-based associations of efficient food conversion in dairy cows

scientific article
The expression of genes involved in hepatic metabolism is altered by temporary changes to milking frequency.

scientific article
Widespread -regulation of RNA editing in a large mammal

scientific article published on 10 December 2018

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