Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

Lee, Jong-Min, Wheeler, Vanessa C., Chao, Michael J., Vonsattel, Jean Paul G., Pinto, Ricardo Mouro, Lucente, Diane, Abu-Elneel, Kawther, Ramos, Eliana Marisa +19 more·2015·Cell
DOI 10.1016/j.cell.2015.07.003

Cited by (659)

Items 601–659 of 659

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  2. Additional file 3 of Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction
    Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, Willeke van Roon‐Mom, Susanne Tamara de Bot, Katherine Wolstencroft, Eleni Mina · 2023 · Figshare
  3. Additional file 10 of Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction
    Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, Willeke van Roon‐Mom, Susanne Tamara de Bot, Katherine Wolstencroft, Eleni Mina · 2023 · Figshare
  4. Additional file 9 of Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction
    Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, Willeke van Roon‐Mom, Susanne Tamara de Bot, Katherine Wolstencroft, Eleni Mina · 2023 · Figshare
  5. Additional file 7 of Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction
    Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, Willeke van Roon‐Mom, Susanne Tamara de Bot, Katherine Wolstencroft, Eleni Mina · 2023 · Figshare
  6. Additional file 8 of Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction
    Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, Willeke van Roon‐Mom, Susanne Tamara de Bot, Katherine Wolstencroft, Eleni Mina · 2023 · Figshare
  7. Additional file 6 of Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction
    Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, Willeke van Roon‐Mom, Susanne Tamara de Bot, Katherine Wolstencroft, Eleni Mina · 2023 · Figshare
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  11. CellPHIE: Integrating Pathway Discovery With Pooled Profiling of Perturbations Uncovers Pathways of Huntington’s Disease, Including Genetic Modifiers of Neuronal Development and Morphology
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  15. Dietary patterns and fasting behaviors in Huntington's disease population: A cross-sectional survey study
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  16. Connecting HTT intermediate alleles and microRNA dysregulation to enhanced tauopathy in late-onset Alzheimer’s disease
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  17. Inhibiting Cytosine-Adenine-Guanine (CAG) repeat expansions as a therapeutic strategy for Huntington’s disease
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  18. Case 21: Huntington’s Disease with Atypical Onset
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  19. Direct Measure of DNA Damage in Huntington Disease Reveals Elevated Oxidative Genotoxic Stress and Dysfunctional DNA Repair
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  20. Striatal pathology in Spinocerebellar Ataxia Type 1 mice: A comparative study with Huntington’s disease
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  21. Additional file 1 of Psychiatric morbidity and poor follow-up underlie suboptimal functional and survival outcomes in Huntington’s disease
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  22. Additional file 4 of Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction
    Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, van Roon-Mom, Willeke M. C., Susanne Tamara de Bot, Katherine Wolstencroft, Eleni Mina · 2023 · Figshare
  23. Additional file 5 of Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction
    Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, van Roon-Mom, Willeke M. C., Susanne Tamara de Bot, Katherine Wolstencroft, Eleni Mina · 2023 · Figshare
  24. Additional file 1 of Machine learning in Huntington’s disease: exploring the Enroll-HD dataset for prognosis and driving capability prediction
    Jasper Ouwerkerk, Stephanie Feleus, Kasper F. van der Zwaan, Yunlei Li, Marco Roos, van Roon-Mom, Willeke M. C., Susanne Tamara de Bot, Katherine Wolstencroft, Eleni Mina · 2023 · Figshare
  25. Mismatch repair MLH complexes make distinct contributions to post-replicative mismatch repair versus trinucleotide repeat expansions
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  26. Huntington’s disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion
    Eunhye Lee, Wonju Kim, David H. Beier, Yejin Lee, Marina V. Kovalenko, Faaiza Saif, Esaria Oliver, Bhairavi Srinageshwar, Ryan Murtha, Marissa A Andrew et al. · 2026 · Proceedings of the National Academy of Sciences
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  28. Reconstitution du réseau corticostriatal et cible thérapeutique dans la maladie de Huntington
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  29. Rôle des altérations transcriptionnelles et épigénétiques dans les déficits comportementaux de la maladie de Huntington
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  30. Identification of genetic modifiers in Hereditary Spastic Paraplegias due to SPAST/SPG4 mutations
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  31. Distinct autophagy impairment mechanisms of huntingtin aggregates with different polyQ lengths
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  32. Functional impacts of Huntingtin lowering on the synaptic maturation and activity of neuronal networks derived from human induced pluripotent stem cells
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  38. The holistic burden of Huntington's disease: A qualitative study of multigenerational impact on individuals and family caregivers across Europe
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  39. Clinical implications of loss of interruption variants for diagnosis, genetic counselling, and clinical trials in Huntington's disease
    Hailey Findlay Black, Jessica Dawson, Chris Kay, Stephanie Bortnick, Kyla Javier, Michael R. Hayden · 2026 · Journal of Huntington s Disease
  40. Genetic or pharmacological disruption of the MSH3 Y245/K246 IDL binding pocket slows CAG repeat expansion
    Rob Goold, Jasmine Donaldson, Florence Gidney, Philip Goff, Joseph Hamilton, Marwa Elmasri, Lucy Coupland, Michael D. Flower, Sarah J. Tabrizi · 2026 · NAR Molecular Medicine
  41. Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease
    Nikolas A. Baya, Frederik Heymann Lassen, Barney Hill, Samvida S. Venkatesh, Hannah Currant, Cecilia M. Lindgren, Duncan S. Palmer · 2026 · The American Journal of Human Genetics
  42. Childhood to Adult Neurodevelopment in Gene-Expanded Huntington’s Disease (ChANGE-HD): A prospective longitudinal neurodevelopmental study of Huntington’s disease
    Mohit Neema, Nabil M Halabi, Peg Nopoulos, Michael Freedberg, the ChANGE-HD investigators, coordinators, and consultants · 2026 · PLoS ONE
  43. Reconciling the effects of PMS2 in different repeat expansion disease models supports a common expansion mechanism
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  44. Advances in diffusion MRI in Huntington's disease
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  45. WWOX contributes to DNA damage, but not somatic instability in Huntington’s disease
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  47. Structural insights into the MLH1–FAN1 interaction reveal an uncharacterized binding interface on MLH1
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  50. Decoding neuronal vulnerability: Multidimensional analysis of D1R ‐ and D2R ‐ medium‐sized spiny neurons in Huntington's disease
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  52. Gene therapy in Huntington’s disease (HD)
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