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Items: 1 to 50 of 66

1.

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

Cumming SA, Hamilton MJ, Robb Y, Gregory H, McWilliam C, Cooper A, Adam B, McGhie J, Hamilton G, Herzyk P, Tschannen MR, Worthey E, Petty R, Ballantyne B; Scottish Myotonic Dystrophy Consortium, Warner J, Farrugia ME, Longman C, Monckton DG.

Eur J Hum Genet. 2018 Nov;26(11):1635-1647. doi: 10.1038/s41431-018-0156-9. Epub 2018 Jul 2.

PMID:
29967337
2.

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

Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmüller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM; OPTIMISTIC consortium.

Lancet Neurol. 2018 Aug;17(8):671-680. doi: 10.1016/S1474-4422(18)30203-5. Epub 2018 Jun 19.

PMID:
29934199
3.

Brain imaging in myotonic dystrophy type 1: A systematic review.

Okkersen K, Monckton DG, Le N, Tuladhar AM, Raaphorst J, van Engelen BGM.

Neurology. 2017 Aug 29;89(9):960-969. doi: 10.1212/WNL.0000000000004300. Epub 2017 Aug 2. Review.

PMID:
28768849
4.

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

Gomes-Pereira M, Monckton DG.

Front Cell Neurosci. 2017 May 30;11:153. doi: 10.3389/fncel.2017.00153. eCollection 2017.

5.

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

Wood L, Cordts I, Atalaia A, Marini-Bettolo C, Maddison P, Phillips M, Roberts M, Rogers M, Hammans S, Straub V, Petty R, Orrell R, Monckton DG, Nikolenko N, Jimenez-Moreno AC, Thompson R, Hilton-Jones D, Turner C, Lochmüller H.

J Neurol. 2017 May;264(5):979-988. doi: 10.1007/s00415-017-8483-2. Epub 2017 Apr 10.

6.

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.

Hamilton MJ, Robb Y, Cumming S, Gregory H, Duncan A, Rahman M, McKeown A, McWilliam C, Dean J, Wilcox A, Farrugia ME, Cooper A, McGhie J, Adam B, Petty R; Scottish Myotonic Dystrophy Consortium, Longman C, Findlay I, Japp A, Monckton DG, Denvir MA.

PLoS One. 2017 Apr 6;12(4):e0175615. doi: 10.1371/journal.pone.0175615. eCollection 2017.

7.

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.

Hamilton MJ, Robb Y, Cumming S, Gregory H, Duncan A, Rahman M, McKeown A, McWilliam C, Dean J, Wilcox A, Farrugia ME, Cooper A, McGhie J, Adam B, Petty R; Scottish Myotonic Dystrophy Consortium, Longman C, Findlay I, Japp A, Monckton DG, Denvir MA.

PLoS One. 2017 Mar 21;12(3):e0174166. doi: 10.1371/journal.pone.0174166. eCollection 2017. Erratum in: PLoS One. 2017 Apr 6;12 (4):e0175615.

8.

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

DiPaolo G, Jimenez-Moreno C, Nikolenko N, Atalaia A, Monckton DG, Guglieri M, Lochmüller H.

J Neurol. 2017 Apr;264(4):701-708. doi: 10.1007/s00415-017-8399-x. Epub 2017 Feb 6.

9.

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

van Agtmaal EL, André LM, Willemse M, Cumming SA, van Kessel IDG, van den Broek WJAA, Gourdon G, Furling D, Mouly V, Monckton DG, Wansink DG, Wieringa B.

Mol Ther. 2017 Jan 4;25(1):24-43. doi: 10.1016/j.ymthe.2016.10.014. Epub 2017 Jan 4.

10.

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.

Morales F, Vásquez M, Santamaría C, Cuenca P, Corrales E, Monckton DG.

DNA Repair (Amst). 2016 Apr;40:57-66. doi: 10.1016/j.dnarep.2016.01.001. Epub 2016 Mar 8.

PMID:
26994442
11.

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

Larson E, Fyfe I, Morton AJ, Monckton DG.

Neurobiol Dis. 2015 Apr;76:98-111. doi: 10.1016/j.nbd.2015.01.004. Epub 2015 Feb 3.

PMID:
25662336
12.

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

Morales F, Vásquez M, Cuenca P, Campos D, Santamaría C, Del Valle G, Brian R, Sittenfeld M, Monckton DG.

Eur J Hum Genet. 2015 May;23(5):646-53. doi: 10.1038/ejhg.2014.138. Epub 2014 Jul 23.

13.

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

Gomes-Pereira M, Hilley JD, Morales F, Adam B, James HE, Monckton DG.

Nucleic Acids Res. 2014 Jun;42(11):7047-56. doi: 10.1093/nar/gku285. Epub 2014 May 23.

14.
15.

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

Tomé S, Manley K, Simard JP, Clark GW, Slean MM, Swami M, Shelbourne PF, Tillier ER, Monckton DG, Messer A, Pearson CE.

PLoS Genet. 2013;9(2):e1003280. doi: 10.1371/journal.pgen.1003280. Epub 2013 Feb 28.

16.

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

Morales F, Couto JM, Higham CF, Hogg G, Cuenca P, Braida C, Wilson RH, Adam B, del Valle G, Brian R, Sittenfeld M, Ashizawa T, Wilcox A, Wilcox DE, Monckton DG.

Hum Mol Genet. 2012 Aug 15;21(16):3558-67. doi: 10.1093/hmg/dds185. Epub 2012 May 16.

PMID:
22595968
17.

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

Higham CF, Morales F, Cobbold CA, Haydon DT, Monckton DG.

Hum Mol Genet. 2012 Jun 1;21(11):2450-63. doi: 10.1093/hmg/dds059. Epub 2012 Feb 24.

PMID:
22367968
18.

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

Nestor CE, Monckton DG.

PLoS One. 2011;6(12):e28260. doi: 10.1371/journal.pone.0028260. Epub 2011 Dec 6.

19.

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

Groh WJ, Groh MR, Shen C, Monckton DG, Bodkin CL, Pascuzzi RM.

Muscle Nerve. 2011 May;43(5):648-51. doi: 10.1002/mus.21934.

PMID:
21484823
20.

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.

Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG.

Hum Mol Genet. 2010 Apr 15;19(8):1399-412. doi: 10.1093/hmg/ddq015. Epub 2010 Jan 15.

PMID:
20080938
21.

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

Thompson R, Schoser B, Monckton DG, Blonsky K, Lochmüller H.

Neuromuscul Disord. 2009 Dec;19(12):860-6. doi: 10.1016/j.nmd.2009.08.009. Epub 2009 Oct 20. No abstract available.

PMID:
19846307
22.

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

Spaans F, Faber CG, Smeets HJ, Hofman PA, Braida C, Monckton DG, de Die-Smulders CE.

J Neurol Neurosurg Psychiatry. 2009 Sep;80(9):1029-35. doi: 10.1136/jnnp.2008.170126. Epub 2009 Mar 24.

PMID:
19321466
23.

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

Vicente M, Monferrer L, Poulos MG, Houseley J, Monckton DG, O'dell KM, Swanson MS, Artero RD.

Differentiation. 2007 Jun;75(5):427-40. Epub 2007 Feb 16.

PMID:
17309604
24.

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

Veitch NJ, Ennis M, McAbney JP; US-Venezuela Collaborative Research Project, Shelbourne PF, Monckton DG.

DNA Repair (Amst). 2007 Jun 1;6(6):789-96. Epub 2007 Feb 12.

PMID:
17293170
25.

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

Rhodes JD, Monckton DG, McAbney JP, Prescott AR, Duncan G.

Hum Mol Genet. 2006 Dec 15;15(24):3559-68. Epub 2006 Nov 13.

PMID:
17101631
26.

Noncanonical RNAs from transcripts of the Drosophila muscleblind gene.

Houseley JM, Garcia-Casado Z, Pascual M, Paricio N, O'Dell KM, Monckton DG, Artero RD.

J Hered. 2006 May-Jun;97(3):253-60. Epub 2006 May 19.

PMID:
16714427
27.

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

Gomes-Pereira M, Monckton DG.

Mutat Res. 2006 Jun 25;598(1-2):15-34. Epub 2006 Feb 28. Review.

PMID:
16500684
28.

Using robots to find needles.

Monckton DG.

Mech Ageing Dev. 2005 Oct;126(10):1046-50. Review. No abstract available.

PMID:
16153471
29.

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

Houseley JM, Wang Z, Brock GJ, Soloway J, Artero R, Perez-Alonso M, O'Dell KM, Monckton DG.

Hum Mol Genet. 2005 Mar 15;14(6):873-83. Epub 2005 Feb 9.

PMID:
15703191
30.

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

Coolbaugh-Murphy M, Maleki A, Ramagli L, Frazier M, Lichtiger B, Monckton DG, Siciliano MJ, Brown BW.

Genomics. 2004 Aug;84(2):419-30.

PMID:
15234004
31.

Mouse tissue culture models of unstable triplet repeats.

Gomes-Pereira M, Monckton DG.

Methods Mol Biol. 2004;277:215-27.

PMID:
15201459
32.

Analysis of unstable triplet repeats using small-pool polymerase chain reaction.

Gomes-Pereira M, Bidichandani SI, Monckton DG.

Methods Mol Biol. 2004;277:61-76.

PMID:
15201449
33.

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

Gomes-Pereira M, Fortune MT, Ingram L, McAbney JP, Monckton DG.

Hum Mol Genet. 2004 Aug 15;13(16):1815-25. Epub 2004 Jun 15.

PMID:
15198993
34.

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

Gomes-Pereira M, Monckton DG.

Nucleic Acids Res. 2004 May 20;32(9):2865-72. Print 2004.

35.

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

Martorell L, Gámez J, Cayuela ML, Gould FK, McAbney JP, Ashizawa T, Monckton DG, Baiget M.

Neurology. 2004 Jan 27;62(2):269-74.

PMID:
14745066
36.

Myotonic dystrophy: discussion of molecular basis.

Timchenko LT, Tapscott SJ, Cooper TA, Monckton DG.

Adv Exp Med Biol. 2002;516:27-45. Review. No abstract available.

PMID:
12611434
37.

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

Libby RT, Monckton DG, Fu YH, Martinez RA, McAbney JP, Lau R, Einum DD, Nichol K, Ware CB, Ptacek LJ, Pearson CE, La Spada AR.

Hum Mol Genet. 2003 Jan 1;12(1):41-50.

PMID:
12490531
38.

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

Abbruzzese C, Costanzi Porrini S, Mariani B, Gould FK, McAbney JP, Monckton DG, Ashizawa T, Giacanelli M.

Ann Neurol. 2002 Oct;52(4):435-41.

PMID:
12325072
39.

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

Zhang Y, Monckton DG, Siciliano MJ, Connor TH, Meistrich ML.

Mutat Res. 2002 Apr 26;516(1-2):121-38.

PMID:
11943618
40.

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

Zhang Y, Monckton DG, Siciliano MJ, Connor TH, Meistrich ML.

Hum Mol Genet. 2002 Apr 1;11(7):791-8.

PMID:
11929851
41.
43.

Frequency and stability of the myotonic dystrophy type 1 premutation.

Martorell L, Monckton DG, Sanchez A, Lopez De Munain A, Baiget M.

Neurology. 2001 Feb 13;56(3):328-35.

PMID:
11171897
44.

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

Zheng N, Monckton DG, Wilson G, Hagemeister F, Chakraborty R, Connor TH, Siciliano MJ, Meistrich ML.

Environ Mol Mutagen. 2000;36(2):134-45.

PMID:
11013412
45.

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

Martorell L, Monckton DG, Gamez J, Baiget M.

Eur J Hum Genet. 2000 Jun;8(6):423-30.

46.

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

Fortune MT, Vassilopoulos C, Coolbaugh MI, Siciliano MJ, Monckton DG.

Hum Mol Genet. 2000 Feb 12;9(3):439-45.

PMID:
10655554
47.

Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males.

Monckton DG, Cayuela ML, Gould FK, Brock GJ, Silva R, Ashizawa T.

Hum Mol Genet. 1999 Dec;8(13):2473-8.

PMID:
10556295
48.
49.

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

Martorell L, Monckton DG, Gamez J, Johnson KJ, Gich I, Lopez de Munain A, Baiget M.

Hum Mol Genet. 1998 Feb;7(2):307-12.

PMID:
9425239
50.

Hypermutable myotonic dystrophy CTG repeats in transgenic mice.

Monckton DG, Coolbaugh MI, Ashizawa KT, Siciliano MJ, Caskey CT.

Nat Genet. 1997 Feb;15(2):193-6.

PMID:
9020848

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