201 related articles for article (PubMed ID: 19020295)
1. Premutation allele pool in myotonic dystrophy type 2.
Bachinski LL; Czernuszewicz T; Ramagli LS; Suominen T; Shriver MD; Udd B; Siciliano MJ; Krahe R
Neurology; 2009 Feb; 72(6):490-7. PubMed ID: 19020295
[TBL] [Abstract][Full Text] [Related]
2. Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract.
Liquori CL; Ikeda Y; Weatherspoon M; Ricker K; Schoser BG; Dalton JC; Day JW; Ranum LP
Am J Hum Genet; 2003 Oct; 73(4):849-62. PubMed ID: 14505273
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Distribution and Structure of DM2 Repeat Tract Alleles in the German Population.
Mahyera AS; Schneider T; Halliger-Keller B; Schrooten K; Hörner EM; Rost S; Kress W
Front Neurol; 2018; 9():463. PubMed ID: 29973908
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles.
Radvanszky J; Hyblova M; Radvanska E; Spalek P; Valachova A; Magyarova G; Bognar C; Polak E; Szemes T; Kadasi L
J Clin Med; 2021 Aug; 10(17):. PubMed ID: 34501382
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated
Botta A; Visconti VV; Fontana L; Bisceglia P; Bengala M; Massa R; Bagni I; Cardani R; Sangiuolo F; Meola G; Antonini G; Petrucci A; Pegoraro E; D'Apice MR; Novelli G
Front Genet; 2021; 12():668094. PubMed ID: 34234810
[TBL] [Abstract][Full Text] [Related]
9. Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
Kamsteeg EJ; Kress W; Catalli C; Hertz JM; Witsch-Baumgartner M; Buckley MF; van Engelen BG; Schwartz M; Scheffer H
Eur J Hum Genet; 2012 Dec; 20(12):1203-8. PubMed ID: 22643181
[TBL] [Abstract][Full Text] [Related]
10. Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.
Sulek A; Lusakowska A; Krysa W; Rajkiewicz M; Kaminska A; Nojszewska M; Kostera-Pruszczyk A; Zdzienicka E; Kubalska J; Rakowicz M; Szirkowiec W; Kwiecinski H; Zaremba J
Neurol Neurochir Pol; 2018; 52(6):736-742. PubMed ID: 29588063
[TBL] [Abstract][Full Text] [Related]
11. Characterization of full-length
Alfano M; De Antoni L; Centofanti F; Visconti VV; Maestri S; Degli Esposti C; Massa R; D'Apice MR; Novelli G; Delledonne M; Botta A; Rossato M
Elife; 2022 Aug; 11():. PubMed ID: 36018009
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients.
Santoro M; Fontana L; Maiorca F; Centofanti F; Massa R; Silvestri G; Novelli G; Botta A
Biochim Biophys Acta Mol Basis Dis; 2018 Mar; 1864(3):917-924. PubMed ID: 29291944
[TBL] [Abstract][Full Text] [Related]
15. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum.
Day JW; Ricker K; Jacobsen JF; Rasmussen LJ; Dick KA; Kress W; Schneider C; Koch MC; Beilman GJ; Harrison AR; Dalton JC; Ranum LP
Neurology; 2003 Feb; 60(4):657-64. PubMed ID: 12601109
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. How much expansion to be diseased?: toward repeat size and myotonic dystrophy type 2.
Schoser B; Ashizawa T
Neurology; 2009 Feb; 72(6):484-5. PubMed ID: 19204257
[No Abstract] [Full Text] [Related]
18. 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]
19. Myotonic dystrophies.
Huang CC; Kuo HC
Chang Gung Med J; 2005 Aug; 28(8):517-26. PubMed ID: 16265841
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]