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List of works by Darren G Monckton

2010 Marigold therapeutic strategies for myotonic dystrophy

222nd ENMC International Workshop:

scientific article published on 12 February 2018

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

scientific article published on 14 October 2019

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

scientific article published on 10 October 2019

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

scientific article

Activities of daily living in myotonic dystrophy type 1

scientific article published on 21 January 2020

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

scientific article published in April 2002

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

scientific article published on 3 February 2015

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

scientific article published on 01 July 2019

Allele-specific MVR-PCR analysis at minisatellite D1S8.

scientific article published on May 1993

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

scientific article published on 01 January 2004

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

scientific article published on 02 May 2019

Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation

scientific article published on 01 January 2021

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

scientific article published in February 2001

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

scientific article published on 01 January 2019

Brain imaging in myotonic dystrophy type 1: A systematic review

scientific article

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

scientific article published on 4 January 2017

Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down

scientific article

Chemically induced increases and decreases in the rate of expansion of a CAG*CTG triplet repeat

scientific article published on 20 May 2004

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

scientific article published on 01 June 1999

Complex gene conversion events in germline mutation at human minisatellites

article

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

scientific article published on 6 April 2017

Correlation of inter-locus polyglutamine toxicity with CAG•CTG triplet repeat expandability and flanking genomic DNA GC content

scientific article

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

scientific article published on 23 May 2019

DNA methylation at the <i>DMPK</i> gene locus is associated with cognitive functions in myotonic dystrophy type 1

scientific article published on 10 December 2020

DNA methylation study of Huntington's disease and motor progression in patients and in animal models

scientific article published on 10 September 2020

DNA profiling.

scientific article published on December 1993

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

scientific article published on 02 July 2018

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

scientific article published on 01 April 2002

Disease burden of myotonic dystrophy type 1

scientific article published on 20 February 2019

Disease-associated CAG·CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion

scientific article published on 23 May 2014

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

scientific article published in February 2000

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

scientific article

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

scientific article

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

article

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

scientific article published on 30 May 2017

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

scientific article published on October 1993

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

article

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

scientific article published on 06 February 2017

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

scientific article published on 08 August 2019

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

scientific article published in January 2003

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

scientific article published in January 2004

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

scientific article published on 24 February 2012

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

scientific article published on 01 February 1997

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

scientific article

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

scientific article

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

scientific article published in October 2002

Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy.

scientific article published on August 1996

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

scientific article published on 22 May 2019

MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1

scientific article published on 19 June 2019

MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice

scientific article

Manage risk of accidental gene editing of germline

scientific article published on 01 April 2019

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

scientific article published on June 1994

Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism

scientific article published on 01 October 1994

Minisatellite variant repeat (MVR) mapping: analysis of 'null' repeat units at D1S8

scientific article published on September 1, 1992

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

scientific article published on October 1, 1991

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

scientific article published on 18 September 2013

Mouse Tissue Culture Models of Unstable Triplet Repeats

article

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

Muscleblind isoforms are functionally distinct and regulate alpha-actinin splicing.

scientific article published on 16 February 2007

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

scientific article published on 9 February 2005

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

scientific article published on February 1995

Noncanonical RNAs from transcripts of the Drosophila muscleblind gene

scientific article

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

scientific article published on 02 October 2018

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

scientific article

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

scientific article published on 20 October 2009

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

scientific article

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

scientific article published on 07 November 2020

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

scientific article published on 01 February 1998

Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.

scientific article published on January 1995

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

scientific article

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

scientific article published on 01 January 1995

Structural white matter networks in myotonic dystrophy type 1.

scientific article

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

article

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

scientific article

Unstable triplet repeat diseases.

scientific article published on January 1995

Using robots to find needles

scientific article

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

scientific article published on 15 January 2010

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

scientific article published on 12 August 2020

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