Monckton DG - Search Results

1

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. Wood L, et al. Among authors: monckton dg. J Neurol. 2017 May;264(5):979-988. doi: 10.1007/s00415-017-8483-2. Epub 2017 Apr 10. J Neurol. 2017. PMID: 28397002 Free PMC article.

2

Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.

Ruiz de Sabando A, Ciosi M, Galbete A, Cumming SA; Spanish HD Collaborative Group; Monckton DG, Ramos-Arroyo MA. Ruiz de Sabando A, et al. Among authors: monckton dg. Eur J Hum Genet. 2024 Jul;32(7):770-778. doi: 10.1038/s41431-024-01546-6. Epub 2024 Mar 4. Eur J Hum Genet. 2024. PMID: 38433266 Free PMC article.

3

Frequency and stability of the myotonic dystrophy type 1 premutation.

Martorell L, Monckton DG, Sanchez A, Lopez De Munain A, Baiget M. Martorell L, et al. Among authors: monckton dg. Neurology. 2001 Feb 13;56(3):328-35. doi: 10.1212/wnl.56.3.328. Neurology. 2001. PMID: 11171897

4

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. Abbruzzese C, et al. Among authors: monckton dg. Ann Neurol. 2002 Oct;52(4):435-41. doi: 10.1002/ana.10304. Ann Neurol. 2002. PMID: 12325072

5

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. Martorell L, et al. Among authors: monckton dg. Neurology. 2004 Jan 27;62(2):269-74. doi: 10.1212/wnl.62.2.269. Neurology. 2004. PMID: 14745066

6

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. Houseley JM, et al. Among authors: monckton dg. Hum Mol Genet. 2005 Mar 15;14(6):873-83. doi: 10.1093/hmg/ddi080. Epub 2005 Feb 9. Hum Mol Genet. 2005. PMID: 15703191

7

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

Thompson R, Schoser B, Monckton DG, Blonsky K, Lochmüller H. Thompson R, et al. Among authors: monckton dg. Neuromuscul Disord. 2009 Dec;19(12):860-6. doi: 10.1016/j.nmd.2009.08.009. Epub 2009 Oct 20. Neuromuscul Disord. 2009. PMID: 19846307 No abstract available.

8

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. Braida C, et al. Among authors: monckton dg. Hum Mol Genet. 2010 Apr 15;19(8):1399-412. doi: 10.1093/hmg/ddq015. Epub 2010 Jan 15. Hum Mol Genet. 2010. PMID: 20080938

9

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. Morales F, et al. Among authors: monckton dg. Hum Mol Genet. 2012 Aug 15;21(16):3558-67. doi: 10.1093/hmg/dds185. Epub 2012 May 16. Hum Mol Genet. 2012. PMID: 22595968

10

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. DiPaolo G, et al. Among authors: monckton dg. J Neurol. 2017 Apr;264(4):701-708. doi: 10.1007/s00415-017-8399-x. Epub 2017 Feb 6. J Neurol. 2017. PMID: 28168524 Free PMC article.

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