Common disease signatures from gene expression analysis in Huntington’s disease human blood and brain

Huntington’s disease biomarker progression profile identified by transcriptome sequencing in peripheral blood

(2015) Anastasios Mastrokolias et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Long term follow up of two independent patients with Schinzel–Giedion carrying SETBP1 mutations

(2015) Yvan Herenger et al.   European Journal of Medical Genetics

Treating the whole body in Huntington's disease

(2015) Jeffrey B Carroll et al.   LANCET NEUROLOGY

Sphingolipid Metabolism Correlates with Cerebrospinal Fluid Beta Amyloid Levels in Alzheimer’s Disease

(2015) Alfred N. Fonteh et al.   PLoS One

A common gene expression signature in Huntington’s disease patient brain regions

(2014) Andreas Neueder et al.   BMC Medical Genomics

Calpain inhibition mediates autophagy-dependent protection against polyglutamine toxicity

(2014) F M Menzies et al.   CELL DEATH AND DIFFERENTIATION

Disruption of the nuclear membrane by perinuclear inclusions of mutant huntingtin causes cell-cycle re-entry and striatal cell death in mouse and cell models of Huntington's disease

(2014) Kuan-Yu Liu et al.   HUMAN MOLECULAR GENETICS

Multiple hypothesis testing in genomics

(2014) Jelle J. Goeman et al.   STATISTICS IN MEDICINE

The emerging roles of TCF4 in disease and development

(2014) Marc P. Forrest et al.   TRENDS IN MOLECULAR MEDICINE

Distinct neurological features in a patient with Schinzel–Giedion syndrome caused by a recurrent SETBP1 mutation

(2013) Jung Min Ko et al.   CHILDS NERVOUS SYSTEM

Renal Collecting Duct NOS1 Maintains Fluid–Electrolyte Homeostasis and Blood Pressure

(2013) Kelly A. Hyndman et al.   HYPERTENSION

Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data

(2013) Sarah J Tabrizi et al.   LANCET NEUROLOGY

Identification of a unique TGF-β–dependent molecular and functional signature in microglia

(2013) Oleg Butovsky et al.   NATURE NEUROSCIENCE

The Taverna workflow suite: designing and executing workflows of Web Services on the desktop, web or in the cloud

(2013) Katherine Wolstencroft et al.   NUCLEIC ACIDS RESEARCH

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

(2013) K. Sathasivam et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Network methods for describing sample relationships in genomic datasets: application to Huntington’s disease

(2012) Michael C Oldham et al.   BMC Systems Biology

Ganglioside GM1 induces phosphorylation of mutant huntingtin and restores normal motor behavior in Huntington disease mice

(2012) A. Di Pardo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ubiquitin Ligase Substrate Identification through Quantitative Proteomics at Both the Protein and Peptide Levels

(2011) Kimberly A. Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Proteome-wide, Quantitative Survey of In Vivo Ubiquitylation Sites Reveals Widespread Regulatory Roles

(2011) Sebastian A. Wagner et al.   MOLECULAR & CELLULAR PROTEOMICS

Systematic and Quantitative Assessment of the Ubiquitin-Modified Proteome

(2011) Woong Kim et al.   MOLECULAR CELL

Convergent Genomic Studies Identify Association of GRIK2 and NPAS2 with Chronic Fatigue Syndrome

(2011) Alicia K. Smith et al.   NEUROPSYCHOBIOLOGY

Spinocerebellar ataxia type 10 – A review

(2011) Hélio A.G. Teive et al.   PARKINSONISM & RELATED DISORDERS

Is human blood a good surrogate for brain tissue in transcriptional studies?

(2010) Chaochao Cai et al.   BMC GENOMICS

Literature-aided interpretation of gene expression data with the weighted global test

(2010) R. Jelier et al.   BRIEFINGS IN BIOINFORMATICS

Delivery of GABAARs to Synapses Is Mediated by HAP1-KIF5 and Disrupted by Mutant Huntingtin

(2010) Alison E. Twelvetrees et al.   NEURON

Rewriting and suppressing UMLS terms for improved biomedical term identification

(2010) Kristina M Hettne et al.   Journal of Biomedical Semantics

A dictionary to identify small molecules and drugs in free text

(2009) Kristina M. Hettne et al.   BIOINFORMATICS

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

Huntington's disease: The current state of research with peripheral tissues

(2009) Jenny Sassone et al.   EXPERIMENTAL NEUROLOGY

Polyglutamine expansion in huntingtin alters its interaction with phospholipids

(2009) Kimberly B. Kegel et al.   JOURNAL OF NEUROCHEMISTRY

Beyond the brain: widespread pathology in Huntington's disease

(2009) Jorien MM van der Burg et al.   LANCET NEUROLOGY

Disease signatures are robust across tissues and experiments

(2009) Joel T Dudley et al.   Molecular Systems Biology

Gene expression changes in blood as a putative biomarker for Huntington's disease

(2009) Luca Lovrecic et al.   MOVEMENT DISORDERS

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS

A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease

(2008) Maria Björkqvist et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Functional organization of the transcriptome in human brain

(2008) Michael C Oldham et al.   NATURE NEUROSCIENCE

Anni 2.0: a multipurpose text-mining tool for the life sciences

(2008) Rob Jelier et al.   GENOME BIOLOGY

Literature-based concept profiles for gene annotation: The issue of weighting

(2007) R JELIER et al.   INTERNATIONAL JOURNAL OF MEDICAL INFORMATICS