171 related articles for article (PubMed ID: 20616365)
1. Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).
Catalli C; Morgante A; Iraci R; Rinaldi F; Botta A; Novelli G
J Mol Diagn; 2010 Sep; 12(5):601-6. PubMed ID: 20616365
[TBL] [Abstract][Full Text] [Related]
2. Repeat-primed polymerase chain reaction in myotonic dystrophy type 2 testing.
Radvansky J; Ficek A; Kadasi L
Genet Test Mol Biomarkers; 2011 Mar; 15(3):133-6. PubMed ID: 21204698
[TBL] [Abstract][Full Text] [Related]
3. Upgrading molecular diagnostics of myotonic dystrophies: multiplexing for simultaneous characterization of the DMPK and ZNF9 repeat motifs.
Radvansky J; Ficek A; Kadasi L
Mol Cell Probes; 2011 Aug; 25(4):182-5. PubMed ID: 21550396
[TBL] [Abstract][Full Text] [Related]
4. A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2.
Bonifazi E; Vallo L; Giardina E; Botta A; Novelli G
Diagn Mol Pathol; 2004 Sep; 13(3):164-6. PubMed ID: 15322428
[TBL] [Abstract][Full Text] [Related]
5. Myotonic dystrophy type 2 and related myotonic disorders.
Meola G; Moxley RT
J Neurol; 2004 Oct; 251(10):1173-82. PubMed ID: 15503094
[TBL] [Abstract][Full Text] [Related]
6. Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.
Bachinski LL; Udd B; Meola G; Sansone V; Bassez G; Eymard B; Thornton CA; Moxley RT; Harper PS; Rogers MT; Jurkat-Rott K; Lehmann-Horn F; Wieser T; Gamez J; Navarro C; Bottani A; Kohler A; Shriver MD; Sallinen R; Wessman M; Zhang S; Wright FA; Krahe R
Am J Hum Genet; 2003 Oct; 73(4):835-48. PubMed ID: 12970845
[TBL] [Abstract][Full Text] [Related]
7. Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus.
Radvanszky J; Surovy M; Polak E; Kadasi L
Neuromuscul Disord; 2013 Jul; 23(7):591-8. PubMed ID: 23561036
[TBL] [Abstract][Full Text] [Related]
8. Optimization PCR for Detection CTG/CCTG-Repeat Expansions in the Diagnosis of Myotonic Dystrophies.
Meng YX; Shen HR; Zhao Z; Bing Q; Li N; Hu J
Ann Clin Lab Sci; 2015; 45(5):502-7. PubMed ID: 26586700
[TBL] [Abstract][Full Text] [Related]
9. Triplet-primed PCR is more sensitive than southern blotting-long PCR for the diagnosis of myotonic dystrophy type1.
Addis M; Serrenti M; Meloni C; Cau M; Melis MA
Genet Test Mol Biomarkers; 2012 Dec; 16(12):1428-31. PubMed ID: 23030650
[TBL] [Abstract][Full Text] [Related]
10. Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.
Suominen T; Bachinski LL; Auvinen S; Hackman P; Baggerly KA; Angelini C; Peltonen L; Krahe R; Udd B
Eur J Hum Genet; 2011 Jul; 19(7):776-82. PubMed ID: 21364698
[TBL] [Abstract][Full Text] [Related]
11. [Myotonic dystrophy type 2].
Kimura T; Saito T
Brain Nerve; 2011 Nov; 63(11):1151-60. PubMed ID: 22068467
[TBL] [Abstract][Full Text] [Related]
12. Rapid detection of large expansions in progressive myoclonus epilepsy type 1, myotonic dystrophy type 2 and spinocerebellar ataxia type 8.
Krysa W; Rajkiewicz M; Sułek A
Neurol Neurochir Pol; 2012; 46(2):113-20. PubMed ID: 22581592
[TBL] [Abstract][Full Text] [Related]
13. Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.
Vallo L; Bonifazi E; Borgiani P; Novelli G; Botta A
Mol Cell Probes; 2005 Feb; 19(1):71-4. PubMed ID: 15652222
[TBL] [Abstract][Full Text] [Related]
14. Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.
Raheem O; Olufemi SE; Bachinski LL; Vihola A; Sirito M; Holmlund-Hampf J; Haapasalo H; Li YP; Udd B; Krahe R
Am J Pathol; 2010 Dec; 177(6):3025-36. PubMed ID: 20971734
[TBL] [Abstract][Full Text] [Related]
15. Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2.
Jakubiczka S; Vielhaber S; Kress W; Küpferling P; Reuner U; Kunath B; Wieacker P
Neurogenetics; 2004 Feb; 5(1):55-9. PubMed ID: 14666402
[TBL] [Abstract][Full Text] [Related]
16. Investigation of molecular diagnosis in Chinese patients with myotonic dystrophy type 1.
Li M; Wang Z; Cui F; Yang F; Chen Z; Ling L; Pu C; Huang X
Chin Med J (Engl); 2014; 127(6):1084-8. PubMed ID: 24622439
[TBL] [Abstract][Full Text] [Related]
17. Molecular Diagnosis of Myotonic Dystrophy.
Chakraborty S; Vatta M; Bachinski LL; Krahe R; Dlouhy S; Bai S
Curr Protoc Hum Genet; 2016 Oct; 91():9.29.1-9.29.19. PubMed ID: 27727437
[TBL] [Abstract][Full Text] [Related]
18. Type 2 myotonic dystrophy can be predicted by the combination of type 2 muscle fiber central nucleation and scattered atrophy.
Bassez G; Chapoy E; Bastuji-Garin S; Radvanyi-Hoffman H; Authier FJ; Pellissier JF; Eymard B; Gherardi RK
J Neuropathol Exp Neurol; 2008 Apr; 67(4):319-25. PubMed ID: 18379436
[TBL] [Abstract][Full Text] [Related]
19. A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.
Le Ber I; Martinez M; Campion D; Laquerrière A; Bétard C; Bassez G; Girard C; Saugier-Veber P; Raux G; Sergeant N; Magnier P; Maisonobe T; Eymard B; Duyckaerts C; Delacourte A; Frebourg T; Hannequin D
Brain; 2004 Sep; 127(Pt 9):1979-92. PubMed ID: 15215218
[TBL] [Abstract][Full Text] [Related]
20. Myotonic dystrophy: emerging mechanisms for DM1 and DM2.
Cho DH; Tapscott SJ
Biochim Biophys Acta; 2007 Feb; 1772(2):195-204. PubMed ID: 16876389
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
