All Stories

  1. A DM1 patient with CCG variant repeats: Reaching the diagnosis

    Article • Neuromuscular Disorders, March 2021, Elsevier

    Darren Monckton

  2. The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington’s Disease: A Historical Perspective

    Article • Journal of Huntington s Disease, February 2021, IOS Press

    Darren Monckton

  3. DNA methylation at the DMPK gene locus is associated with cognitive functions in myotonic dystrophy type 1

    Article • Epigenomics, December 2020, Future Medicine

    Darren Monckton

  4. Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1

    Article • Genes, November 2020, MDPI AG

    Darren Monckton, MD, PhD Guillem PINTOS-MORELL

  5. Variant repeats within the DMPK CTG expansion protect function in myotonic dystrophy type 1

    Article • Neurology Genetics, August 2020, Wolters Kluwer Health

    Darren Monckton

  6. Activities of daily living in myotonic dystrophy type 1

    Article • Acta Neurologica Scandinavica, May 2020, Wiley

    Darren Monckton

  7. Reply: The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia

    Article • Brain, March 2020, Oxford University Press (OUP)

    Darren Monckton

  8. A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

    Article • Human Mutation, November 2019, Wiley

    MD, PhD Guillem PINTOS-MORELL, Darren Monckton

  9. A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes

    Article • EBioMedicine, October 2019, Elsevier

    Darren Monckton

  10. Brain Structural Features of Myotonic Dystrophy Type 1 and their Relationship with CTG Repeats

    Article • Journal of Neuromuscular Diseases, September 2019, IOS Press

    Darren Monckton

  11. Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

    Article • Neurology, August 2019, Wolters Kluwer Health

    Darren Monckton

  12. CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

    Article • Cell, August 2019, Elsevier

    Darren Monckton

  13. MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1

    Article • Brain, June 2019, Oxford University Press (OUP)

    Darren Monckton

  14. DMPK gene DNA methylation levels are associated with muscular and respiratory profiles in DM1

    Article • Neurology Genetics, May 2019, Wolters Kluwer Health

    Darren Monckton

  15. Lower extremity muscle pathology in myotonic dystrophy type 1 assessed by quantitative MRI

    Article • Neurology, May 2019, Wolters Kluwer Health

    Linda Heskamp, Darren Monckton

  16. Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1

    Article • PLoS ONE, May 2019, PLOS

    Darren Monckton

  17. In search of Robert Bruce, part I: Craniofacial analysis of the skull excavated at Dunfermline in 1819

    Article • Journal of Archaeological Science Reports, April 2019, Elsevier

    Martin MacGregor, Darren Monckton

  18. Manage risk of accidental gene editing of germline

    Article • Nature, April 2019, Springer Science + Business Media

    Darren Monckton

  19. Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes

    Article • Human Molecular Genetics, March 2019, Oxford University Press (OUP)

    Darren Monckton

  20. Disease burden of myotonic dystrophy type 1

    Article • Journal of Neurology, February 2019, Springer Science + Business Media

    Darren Monckton

  21. Structural white matter networks in myotonic dystrophy type 1

    Article • NeuroImage Clinical, January 2019, Elsevier

    Darren Monckton

  22. Outcome Measures for Central Nervous System Evaluation in Myotonic Dystrophy Type 1 May Be Confounded by Deficits in Motor Function or Insight

    Article • Frontiers in Neurology, October 2018, Frontiers

    Darren Monckton

  23. Consensus-based care recommendations for adults with myotonic dystrophy type 1

    Article • Neurology Clinical Practice, September 2018, Wolters Kluwer Health

    Darren Monckton

  24. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial

    Article • The Lancet Neurology, August 2018, Elsevier

    Darren Monckton

  25. De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1

    Article • European Journal of Human Genetics, July 2018, Springer Science + Business Media

    Darren Monckton

  26. 222nd ENMC International Workshop:

    Article • Neuromuscular Disorders, May 2018, Elsevier

    Darren Monckton

  27. Brain imaging in myotonic dystrophy type 1

    Article • Neurology, August 2017, Wolters Kluwer Health

    Darren Monckton

  28. Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR

    Article • Frontiers in Cellular Neuroscience, May 2017, Frontiers

    Darren Monckton

  29. The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research

    Article • Journal of Neurology, April 2017, Springer Science + Business Media

    Darren Monckton

  30. Correction: Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study

    Article • PLoS ONE, April 2017, PLOS

    Darren Monckton

  31. Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study

    Article • PLoS ONE, March 2017, PLOS

    Darren Monckton

  32. Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)

    Article • Journal of Neurology, February 2017, Springer Science + Business Media

    Darren Monckton

  33. CRISPR/Cas9-Induced (CTG⋅CAG) n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing

    Article • Molecular Therapy, January 2017, Elsevier

    Darren Monckton

  34. Identification and characterization of 5′ CCG interruptions in complex DMPK expanded alleles

    Article • European Journal of Human Genetics, November 2016, Springer Science + Business Media

    Darren Monckton

  35. A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients

    Article • DNA Repair, April 2016, Elsevier

    Darren Monckton

  36. Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial

    Article • Trials, May 2015, Springer Science + Business Media

    Darren Monckton

  37. Age-, tissue- and length-dependent bidirectional somatic CAG•CTG repeat instability in an allelic series of R6/2 Huntington disease mice

    Article • Neurobiology of Disease, April 2015, Elsevier

    Darren Monckton

  38. Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1

    Article • European Journal of Human Genetics, July 2014, Springer Science + Business Media

    Darren Monckton

  39. Disease-associated CAG{middle dot}CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion

    Article • Nucleic Acids Research, May 2014, Oxford University Press (OUP)

    Darren Monckton

  40. Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease

    Article • Journal of The Royal Society Interface, September 2013, Royal Society Publishing

    Darren Monckton

  41. MSH3 Polymorphisms and Protein Levels Affect CAG Repeat Instability in Huntington's Disease Mice

    Article • PLoS Genetics, February 2013, PLOS

    Darren Monckton

  42. Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity

    Article • Human Molecular Genetics, May 2012, Oxford University Press (OUP)

    Darren Monckton

  43. High levels of somatic DNA diversity at the myotonic dystrophy type 1 locus are driven by ultra-frequent expansion and contraction mutations

    Article • Human Molecular Genetics, February 2012, Oxford University Press (OUP)

    Darren Monckton

  44. 2010 Marigold therapeutic strategies for myotonic dystrophy

    Article • Neuromuscular Disorders, January 2012, Elsevier

    Darren Monckton

  45. Correlation of Inter-Locus Polyglutamine Toxicity with CAG•CTG Triplet Repeat Expandability and Flanking Genomic DNA GC Content

    Article • PLoS ONE, December 2011, PLOS

    Darren Monckton

  46. Survival and CTG repeat expansion in adults with myotonic dystrophy type 1

    Article • Muscle & Nerve, April 2011, Wiley

    Darren Monckton

  47. Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

    Article • Human Molecular Genetics, January 2010, Oxford University Press (OUP)

    Darren Monckton

  48. The use of buccal cells for rapid diagnosis of myotonic dystrophy type 1

    Article • Translational Neuroscience, January 2010, De Gruyter

    Darren Monckton

  49. Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD/Marigold International Workshop Report

    Article • Neuromuscular Disorders, December 2009, Elsevier

    Darren Monckton

  50. Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss

    Article • Journal of Neurology Neurosurgery & Psychiatry, March 2009, BMJ

    Darren Monckton

  51. Muscleblind isoforms are functionally distinct and regulate α-actinin splicing

    Article • Differentiation, June 2007, Elsevier

    Marta Vicente-Crespo, Darren Monckton

  52. Inherited CAG·CTG allele length is a major modifier of somatic mutation length variability in Huntington disease

    Article • DNA Repair, June 2007, Elsevier

    Darren Monckton

  53. Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility

    Article • Human Molecular Genetics, November 2006, Oxford University Press (OUP)

    Darren Monckton

  54. Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down

    Article • Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis, June 2006, Elsevier

    Darren Monckton

  55. Noncanonical RNAs From Transcripts of the Drosophila muscleblind Gene

    Article • Journal of Heredity, May 2006, Oxford University Press (OUP)

    Darren Monckton

  56. Using robots to find needles

    Article • Mechanisms of Ageing and Development, October 2005, Elsevier

    Darren Monckton

  57. Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila

    Article • Human Molecular Genetics, February 2005, Oxford University Press (OUP)

    Darren Monckton

  58. Estimating mutant microsatellite allele frequencies in somatic cells by small-pool PCR

    Article • Genomics, August 2004, Elsevier

    Darren Monckton

  59. Pms2 is a genetic enhancer of trinucleotide CAG{middle dot}CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion

    Article • Human Molecular Genetics, June 2004, Oxford University Press (OUP)

    Darren Monckton

  60. Chemically induced increases and decreases in the rate of expansion of a CAG{middle dot}CTG triplet repeat

    Article • Nucleic Acids Research, May 2004, Oxford University Press (OUP)

    Darren Monckton

  61. Germline mutational dynamics in myotonic dystrophy type 1 males: Allele length and age effects

    Article • Neurology, January 2004, Wolters Kluwer Health

    Darren Monckton

  62. Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice

    Article • Human Molecular Genetics, January 2003, Oxford University Press (OUP)

    Darren Monckton

  63. Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1

    Article • Annals of Neurology, September 2002, Wiley

    Darren Monckton

  64. Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm

    Article • Human Molecular Genetics, April 2002, Oxford University Press (OUP)

    Darren Monckton

  65. Detection of radiation and cyclophosphamide-induced mutations in individual mouse sperm at a human expanded trinucleotide repeat locus transgene

    Article • Mutation Research/Genetic Toxicology and Environmental Mutagenesis, April 2002, Elsevier

    Darren Monckton

  66. Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates

    Article • Human Molecular Genetics, April 2001, Oxford University Press (OUP)

    Darren Monckton

  67. Frequency and stability of the myotonic dystrophy type 1 premutation

    Article • Neurology, February 2001, Wolters Kluwer Health

    Darren Monckton

  68. Attempts to detect retrotransposition and de novo deletion of Alus and other dispersed repeats at specific loci in the human genome

    Article • European Journal of Human Genetics, February 2001, Springer Science + Business Media

    Darren Monckton

  69. Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1

    Article • European Journal of Human Genetics, June 2000, Springer Science + Business Media

    Darren Monckton

  70. New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)

    Article • Neurology, March 2000, Wolters Kluwer Health

    Darren Monckton

  71. Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability

    Article • Human Molecular Genetics, February 2000, Oxford University Press (OUP)

    Darren Monckton

  72. Formation of circular amplifications inSaccharomyces cerevisiae by a breakage-fusion-bridge mechanism

    Article • Environmental and Molecular Mutagenesis, January 2000, Wiley

    Darren Monckton

  73. Frequency of minisatellite repeat number changes at the MS205 locus in human sperm before and after cancer chemotherapy

    Article • Environmental and Molecular Mutagenesis, January 2000, Wiley

    Darren Monckton

  74. Very Large (CAG)n DNA Repeat Expansions in the Sperm of Two Spinocerebellar Ataxia Type 7 Males

    Article • Human Molecular Genetics, December 1999, Oxford University Press (OUP)

    Darren Monckton

  75. Cis-acting modifiers of expanded CAG/CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands

    Article • Human Molecular Genetics, June 1999, Oxford University Press (OUP)

    Darren Monckton

  76. Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients

    Article • Human Molecular Genetics, February 1998, Oxford University Press (OUP)

    Darren Monckton

  77. Hypermutable myotonic dystrophy CTG repeats in transgenic mice

    Article • Nature Genetics, February 1997, Springer Science + Business Media

    Darren Monckton

  78. Instability of the Expanded (CTG)nRepeats in the Myotonin Protein Kinase Gene in Cultured Lymphoblastoid Cell Lines from Patients with Myotonic Dystrophy

    Article • Genomics, August 1996, Elsevier

    Darren Monckton

  79. Characterization and Genomic Mapping of Genes and Pseudogenes of a New Human Protein Tyrosine Phosphatase

    Article • Genomics, July 1996, Elsevier

    Darren Monckton

  80. Myotonic dystrophy: An unstable CTG repeat in a protein kinase gene

    Article • Seminars in Cell Biology, February 1995, Elsevier

    Darren Monckton

  81. Unstable Triplet Repeat Diseases

    Article • Circulation, January 1995, Wolters Kluwer Health

    Darren Monckton

  82. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

    Article • Human Molecular Genetics, January 1995, Oxford University Press (OUP)

    Darren Monckton

  83. Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism

    Article • Nature Genetics, October 1994, Springer Science + Business Media

    Darren Monckton

  84. Complex gene conversion events in germline mutation at human minisatellites

    Article • Nature Genetics, February 1994, Springer Science + Business Media

    Darren Monckton

  85. Minisatellite isoalleles can be distinguished by single-stranded conformational polymorphism analysis in agarose gels

    Article • Nucleic Acids Research, January 1994, Oxford University Press (OUP)

    Darren Monckton

  86. DNA profiling

    Article • Current Opinion in Biotechnology, December 1993, Elsevier

    Darren Monckton

  87. Four-state MVR-PCR: increased discrimination of digital DNA typing by simultaneous analysis of two polymorphic sites within minisatellite variant repeats at D1S8

    Article • Human Molecular Genetics, January 1993, Oxford University Press (OUP)

    Darren Monckton

  88. Allele-specific MVR-PCR analysis at minisatellite D1S8

    Article • Human Molecular Genetics, January 1993, Oxford University Press (OUP)

    Darren Monckton

  89. Minisatellite variant repeat (MVR) mapping: analysis of ‘null’ repeat units at D1S8

    Article • Human Molecular Genetics, January 1992, Oxford University Press (OUP)

    Darren Monckton

  90. Erratum

    Article • Human Molecular Genetics, January 1992, Oxford University Press (OUP)

    Darren Monckton

  91. Minisatellite repeat coding as a digital approach to DNA typing

    Article • Nature, November 1991, Springer Science + Business Media

    Darren Monckton

  92. Minisatellite “isoallele” discrimination in pseudohomozygotes by single molecule PCR and variant repeat mapping

    Article • Genomics, October 1991, Elsevier

    Darren Monckton

  93. Analysis of Unstable Triplet Repeats Using Small-Pool Polymerase Chain Reaction

    Article • Springer Science + Business Media

    Darren Monckton

  94. Mouse Tissue Culture Models of Unstable Triplet Repeats

    Article • Springer Science + Business Media

    Darren Monckton