Sign in
Facet browsing currently unavailable
Page 5 of 11413 results
Sort by: relevance publication year
|
BIN1 regulates BACE1 intracellular trafficking and amyloid-β production JOURNAL ARTICLE published 14 May 2016 in Human Molecular Genetics |
|
Structural and molecular myelination deficits occur prior to neuronal loss in the YAC128 and BACHD models of Huntington disease JOURNAL ARTICLE published 28 April 2016 in Human Molecular Genetics |
|
Pre-clinical symptoms of SBMA may not be androgen-dependent: implications from two SBMA mouse models JOURNAL ARTICLE published 15 July 2018 in Human Molecular Genetics Research funded by National Institutes of Health (R01NS-045195) |
|
Cyclin-G-associated kinase modifies -synuclein expression levels and toxicity in Parkinson's disease: results from the GenePD Study JOURNAL ARTICLE published 15 April 2011 in Human Molecular Genetics |
|
Genes and pathways affected by CAG-repeat RNA-based toxicity in Drosophila JOURNAL ARTICLE published 15 December 2011 in Human Molecular Genetics |
|
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice JOURNAL ARTICLE published 1 October 2009 in Human Molecular Genetics |
|
Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith–Magenis syndrome JOURNAL ARTICLE published 1 November 2004 in Human Molecular Genetics |
|
Stem cells for investigation and treatment of inherited retinal disease JOURNAL ARTICLE published 15 September 2014 in Human Molecular Genetics |
|
Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways JOURNAL ARTICLE published 15 October 2009 in Human Molecular Genetics |
|
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects JOURNAL ARTICLE published 1 May 2014 in Human Molecular Genetics |
|
Dismutase-competent SOD1 mutant accumulation in myelinating Schwann cells is not detrimental to normal or transgenic ALS model mice JOURNAL ARTICLE published 1 March 2010 in Human Molecular Genetics |
|
Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome JOURNAL ARTICLE published 19 June 2023 in Human Molecular Genetics Research funded by National Institutes of Health (P30CA016056,R21GM114645,R03TR003344,R01DC019735,R01HD109750,R01HD090180) |
|
ETS1 regulates the expression of ATXN2 JOURNAL ARTICLE published 1 December 2012 in Human Molecular Genetics |
|
TWEAK/Fn14, a pathway and novel therapeutic target in myotonic dystrophy JOURNAL ARTICLE published 1 April 2015 in Human Molecular Genetics |
|
Systematic analysis of the gerontome reveals links between aging and age-related diseases JOURNAL ARTICLE published 4 September 2016 in Human Molecular Genetics |
|
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy JOURNAL ARTICLE published 1 May 2017 in Human Molecular Genetics |
|
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis JOURNAL ARTICLE published 1 April 2006 in Human Molecular Genetics |
|
Neuroligin dependence of social behaviour inCaenorhabditis elegansprovides a model to investigate an autism-associated gene JOURNAL ARTICLE published 6 January 2021 in Human Molecular Genetics Research funded by National Institutes of Health (P40 OD010440) |
|
SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7 JOURNAL ARTICLE published 1 January 2010 in Human Molecular Genetics |
|
Tumor-derived exosomes are enriched in ΔNp73, which promotes oncogenic potential in acceptor cells and correlates with patient survival JOURNAL ARTICLE published 15 January 2014 in Human Molecular Genetics |