Huntington disease

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[35]  M. de Rademaeker,et al.  The uptake and outcome of prenatal and pre‐implantation genetic diagnosis for Huntington's disease in the Netherlands (1998–2008) , 2014, Clinical genetics.

[36]  M. Hayden,et al.  Multisource ascertainment of Huntington disease in Canada: Prevalence and population at risk , 2014, Movement disorders : official journal of the Movement Disorder Society.

[37]  M. Hayden,et al.  High frequency of intermediate alleles on huntington disease‐associated haplotypes in British Columbia's general population , 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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[44]  M. Hayden,et al.  Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes , 2013, European Journal of Human Genetics.

[45]  Edith T. Lopez,et al.  Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches , 2013, PLoS genetics.

[46]  David Eidelberg,et al.  Metabolic network as a progression biomarker of premanifest Huntington's disease. , 2013, The Journal of clinical investigation.

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[58]  I. Liebaers,et al.  Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections. , 2013, Human reproduction update.

[59]  A. Pestronk,et al.  An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study , 2013, The Lancet Neurology.

[60]  G. Bernardi,et al.  Phosphodiesterase 10A (PDE10A) localization in the R6/2 mouse model of Huntington's disease , 2013, Neurobiology of Disease.

[61]  R. Katz,et al.  Regulatory innovation and drug development for early-stage Alzheimer's disease. , 2013, The New England journal of medicine.

[62]  L. Smeeth,et al.  Prevalence of adult Huntington's disease in the UK based on diagnoses recorded in general practice records , 2013, Journal of Neurology, Neurosurgery & Psychiatry.

[63]  R. Reilmann,et al.  Q-motor – Quantitative motor assessments: Potential novel endpoints for clinical trials in pre-manifest and symptomatic Huntington's disease – 36 months longitudinal results from the multicenter TRACK-HD study , 2013 .

[64]  Darlene R Goldstein,et al.  MAP Kinase Phosphatase 1 (MKP-1/DUSP1) Is Neuroprotective in Huntington's Disease via Additive Effects of JNK and p38 Inhibition , 2013, The Journal of Neuroscience.

[65]  B. Bechinger,et al.  Membrane interactions of the amphipathic amino terminus of huntingtin. , 2013, Biochemistry.

[66]  D. Tulsky,et al.  Identification of health-related quality of life (HRQOL) issues relevant to individuals with Huntington disease , 2013, Journal of health psychology.

[67]  Greg W. Clark,et al.  MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice , 2013, PLoS genetics.

[68]  S. Potkin,et al.  Exogenous delivery of chaperonin subunit fragment ApiCCT1 modulates mutant Huntingtin cellular phenotypes , 2013, Proceedings of the National Academy of Sciences.

[69]  D. Housman,et al.  Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease , 2013, Proceedings of the National Academy of Sciences.

[70]  C. Frost,et al.  Evaluation of multi-modal, multi-site neuroimaging measures in Huntington's disease: Baseline results from the PADDINGTON study☆ , 2012, NeuroImage: Clinical.

[71]  R. Roos,et al.  Quality of life in Huntington's disease: a comparative study investigating the impact for those with pre-manifest and early manifest disease, and their partners. , 2013, Journal of Huntington's disease.

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[73]  Lucien E. Weiss,et al.  Cellular Inclusion Bodies of Mutant Huntingtin Exon 1 Obscure Small Fibrillar Aggregate Species , 2012, Scientific Reports.

[74]  P. Morrison.  Prevalence estimates of Huntington disease in Caucasian populations are gross underestimates , 2012, Movement disorders : official journal of the Movement Disorder Society.

[75]  S. Tabrizi,et al.  Mutant huntingtin fragmentation in immune cells tracks Huntington's disease progression. , 2012, The Journal of clinical investigation.

[76]  M. Isalan,et al.  Synthetic zinc finger repressors reduce mutant huntingtin expression in the brain of R6/2 mice , 2012, Proceedings of the National Academy of Sciences.

[77]  R. Faull,et al.  Fragments of HdhQ150 Mutant Huntingtin Form a Soluble Oligomer Pool That Declines with Aggregate Deposition upon Aging , 2012, PloS one.

[78]  T. Gillis,et al.  Msh2 Acts in Medium-Spiny Striatal Neurons as an Enhancer of CAG Instability and Mutant Huntingtin Phenotypes in Huntington’s Disease Knock-In Mice , 2012, PloS one.

[79]  Ronald Wetzel,et al.  Physical chemistry of polyglutamine: intriguing tales of a monotonous sequence. , 2012, Journal of molecular biology.

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[81]  J. Woodcock.  The Future of Orphan Drug Development , 2012, Clinical pharmacology and therapeutics.

[82]  P. Auquier,et al.  Validation of the first quality-of-life measurement for patients with Huntington’s disease: the Huntington Quality of Life Instrument , 2012, International clinical psychopharmacology.

[83]  L. Shihabuddin,et al.  Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis , 2012, Neuron.

[84]  C. Frost,et al.  Evaluation of longitudinal 12 and 24 month cognitive outcomes in premanifest and early Huntington's disease , 2012, Journal of Neurology, Neurosurgery & Psychiatry.

[85]  J. Ferreira,et al.  An evidence-based approach in the treatment of Huntington's disease. , 2012, Parkinsonism & related disorders.

[86]  Jane S. Paulsen,et al.  Development of the HD-Teen Inventory , 2012, Clinical nursing research.

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[91]  G. Bates,et al.  Genetic Knock-Down of Hdac3 Does Not Modify Disease-Related Phenotypes in a Mouse Model of Huntington's Disease , 2012, PloS one.

[92]  R. Wetzel,et al.  Slow amyloid nucleation via α-helix-rich oligomeric intermediates in short polyglutamine-containing huntingtin fragments. , 2012, Journal of molecular biology.

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[94]  P. Reddy,et al.  Mutant huntingtin, abnormal mitochondrial dynamics, defective axonal transport of mitochondria, and selective synaptic degeneration in Huntington's disease. , 2012, Biochimica et biophysica acta.

[95]  M. Hocaoglu,et al.  The Huntington's Disease health-related Quality of Life questionnaire (HDQoL): a disease-specific measure of health-related quality of life , 2012, Clinical genetics.

[96]  Ruth Luthi-Carter,et al.  What have we learned from gene expression profiles in Huntington's disease? , 2012, Neurobiology of Disease.

[97]  Chris Frost,et al.  Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data , 2012, The Lancet Neurology.

[98]  R. Wolterbeek,et al.  Adverse childhood experiences of persons at risk for Huntington's disease or BRCA1/2 hereditary breast/ovarian cancer , 2012, Clinical genetics.

[99]  D. Craufurd,et al.  Longitudinal evaluation of neuropsychiatric symptoms in Huntington's disease. , 2012, The Journal of neuropsychiatry and clinical neurosciences.

[100]  A. Ho,et al.  Health-related quality of life in Huntington’s disease patients: a comparison of proxy assessment and patient self-rating using the disease-specific Huntington’s disease health-related quality of life questionnaire (HDQoL) , 2012, Journal of Neurology.

[101]  R. Barker,et al.  Pridopidine for the treatment of motor function in patients with Huntington's disease (MermaiHD): a phase 3, randomised, double-blind, placebo-controlled trial , 2011, The Lancet Neurology.

[102]  S. Freier,et al.  Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin. , 2011, Molecular therapy : the journal of the American Society of Gene Therapy.

[103]  J. Burgunder,et al.  An International Survey-based Algorithm for the Pharmacologic Treatment of Chorea in Huntington’s Disease , 2011, PLoS currents.

[104]  R. Reilmann,et al.  Assessment of involuntary choreatic movements in Huntington's disease—Toward objective and quantitative measures , 2011, Movement disorders : official journal of the Movement Disorder Society.

[105]  D. Craufurd,et al.  An International Survey-based Algorithm for the Pharmacologic Treatment of Obsessive-Compulsive Behaviors in Huntington’s Disease , 2011, PLoS currents.

[106]  Pj Morrison,et al.  Uptake of Huntington disease predictive testing in a complete population , 2011, Clinical genetics.

[107]  D. Craufurd,et al.  An International Survey-based Algorithm for the Pharmacologic Treatment of Irritability in Huntington's Disease , 2011, PLoS currents.

[108]  M. Dellefield,et al.  Promoting Excellence in End-of-Life Care: Lessons Learned From a Cohort of Nursing Home Residents With Advanced Huntington Disease , 2011, The Journal of neuroscience nursing : journal of the American Association of Neuroscience Nurses.

[109]  G. Bates,et al.  Altered chromatin architecture underlies progressive impairment of the heat shock response in mouse models of Huntington disease. , 2011, The Journal of clinical investigation.

[110]  C. Ross,et al.  Factors contributing to institutionalization in patients with Huntington's disease , 2011, Movement disorders : official journal of the Movement Disorder Society.

[111]  R. Atwal,et al.  Kinase inhibitors modulate huntingtin cell localization and toxicity. , 2011, Nature chemical biology.

[112]  R. Schwarcz,et al.  Kynurenine 3-Monooxygenase Inhibition in Blood Ameliorates Neurodegeneration , 2011, Cell.

[113]  R. Schwarcz,et al.  The Kynurenine Pathway Modulates Neurodegeneration in a Drosophila Model of Huntington's Disease , 2011, Current Biology.

[114]  G. Bates,et al.  Hdac6 Knock-Out Increases Tubulin Acetylation but Does Not Modify Disease Progression in the R6/2 Mouse Model of Huntington's Disease , 2011, PloS one.

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[116]  Ronald Pierson,et al.  Association between Age and Striatal Volume Stratified by CAG Repeat Length in Prodromal Huntington Disease , 2011, PLoS currents.

[117]  A. Varrone,et al.  Regional Cerebral Glucose Metabolism After Pridopidine (ACR16) Treatment in Patients With Huntington Disease , 2011, Clinical neuropharmacology.

[118]  S. Haggarty,et al.  Striatal neurons expressing full-length mutant huntingtin exhibit decreased N-cadherin and altered neuritogenesis. , 2011, Human molecular genetics.

[119]  D. Surmeier,et al.  Brain networks in Huntington disease. , 2011, The Journal of clinical investigation.

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[121]  C. Hetz,et al.  Converging pathways in the occurrence of endoplasmic reticulum (ER) stress in Huntington's disease. , 2011, Current molecular medicine.

[122]  I. Kanazawa,et al.  HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia , 2011, European Journal of Human Genetics.

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[125]  H. D. Rosas,et al.  Optimization of an HTRF Assay for the Detection of Soluble Mutant Huntingtin in Human Buffy Coats: A Potential Biomarker in Blood for Huntington Disease , 2010, PLoS currents.

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[129]  G. Bernardi,et al.  Inhibition of the Striatal Specific Phosphodiesterase PDE10A Ameliorates Striatal and Cortical Pathology in R6/2 Mouse Model of Huntington's Disease , 2010, PloS one.

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[140]  R. Barker,et al.  Cortical dopamine dysfunction in symptomatic and premanifest Huntington's disease gene carriers , 2010, Neurobiology of Disease.

[141]  S. Finkbeiner,et al.  Proteolysis of Mutant Huntingtin Produces an Exon 1 Fragment That Accumulates as an Aggregated Protein in Neuronal Nuclei in Huntington Disease* , 2010, The Journal of Biological Chemistry.

[142]  S. Finkbeiner,et al.  Serines 13 and 16 Are Critical Determinants of Full-Length Human Mutant Huntingtin Induced Disease Pathogenesis in HD Mice , 2009, Neuron.

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[144]  G. Bates,et al.  Formation of Polyglutamine Inclusions in a Wide Range of Non-CNS Tissues in the HdhQ150 Knock-In Mouse Model of Huntington's Disease , 2009, PloS one.

[145]  Judith Frydman,et al.  The Chaperonin TRIC Blocks a Huntingtin Sequence Element that promotes the Conformational Switch to Aggregation , 2009, Nature Structural &Molecular Biology.

[146]  Nick C Fox,et al.  Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data , 2009, The Lancet Neurology.

[147]  Audrey E Hendricks,et al.  Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset. , 2009, Human molecular genetics.

[148]  G. Bates,et al.  Genetic Knock-Down of HDAC7 Does Not Ameliorate Disease Pathogenesis in the R6/2 Mouse Model of Huntington's Disease , 2009, PloS one.

[149]  R. Barker,et al.  Health‐related quality of life in Huntington's disease: Which factors matter most? , 2009, Movement disorders : official journal of the Movement Disorder Society.

[150]  Thomas J Hudson,et al.  CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. , 2009, American journal of human genetics.

[151]  A. Ciarmiello,et al.  Riluzole protects Huntington disease patients from brain glucose hypometabolism and grey matter volume loss and increases production of neurotrophins , 2009, European Journal of Nuclear Medicine and Molecular Imaging.

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[154]  Damon H. May,et al.  Brain-specific Proteins Decline in the Cerebrospinal Fluid of Humans with Huntington Disease , 2009, Molecular & Cellular Proteomics.

[155]  O. Sporns,et al.  Complex brain networks: graph theoretical analysis of structural and functional systems , 2009, Nature Reviews Neuroscience.

[156]  Michael Falkenstein,et al.  Alterations in Voluntary Movement Execution in Huntington's Disease Are Related to the Dominant Motor System — Evidence from Event-related Potentials , 2022 .

[157]  Dalaver H. Anjum,et al.  Polyglutamine disruption of the huntingtin exon1 N-terminus triggers a complex aggregation mechanism , 2009, Nature Structural &Molecular Biology.

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