143 related articles for article (PubMed ID: 22581592)
1. 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]
2. Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay.
Tanaka E; Maruyama H; Morino H; Kawakami H
Hiroshima J Med Sci; 2011 Sep; 60(3):63-6. PubMed ID: 22053702
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Simple procedure for automatic detection of unstable alleles in the myotonic dystrophy and Huntington's disease loci.
Falk M; Vojtísková M; Lukás Z; Kroupová I; Froster U
Genet Test; 2006; 10(2):85-97. PubMed ID: 16792511
[TBL] [Abstract][Full Text] [Related]
5. Novel heat pulse extension-PCR-based method for detection of large CTG-repeat expansions in myotonic dystrophy type 1.
Orpana AK; Ho TH; Alagrund K; Ridanpää M; Aittomäki K; Stenman J
J Mol Diagn; 2013 Jan; 15(1):110-5. PubMed ID: 23159592
[TBL] [Abstract][Full Text] [Related]
6. Modification of the triplet repeat primed polymerase chain reaction method for detection of the CTG repeat expansion in myotonic dystrophy type 1: application in preimplantation genetic diagnosis.
Kakourou G; Dhanjal S; Mamas T; Serhal P; Delhanty JD; SenGupta SB
Fertil Steril; 2010 Oct; 94(5):1674-9. PubMed ID: 20171614
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg.
Weinhaeusel A; Morris MA; Antonarakis SE; Haas OA
Hum Mutat; 2003 Nov; 22(5):404-8. PubMed ID: 14517952
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8).
Koob MD; Moseley ML; Schut LJ; Benzow KA; Bird TD; Day JW; Ranum LP
Nat Genet; 1999 Apr; 21(4):379-84. PubMed ID: 10192387
[TBL] [Abstract][Full Text] [Related]
11. A patient with 2 different repeat expansion mutations.
Nokelainen P; Heiskala H; Lehesjoki AE; Kaski M
Arch Neurol; 2000 Aug; 57(8):1199-203. PubMed ID: 10927802
[TBL] [Abstract][Full Text] [Related]
12. Myotonic Dystrophy Type 1 Clinical, Electrophysiological and Molecular Characterization: Experience at Tertiary Care Centre.
Khadilkar S; Jagiasi K; Yadav J; Chavan SV; Soni G; Patel B
J Assoc Physicians India; 2017 Jun; 65(6):32-37. PubMed ID: 28782311
[TBL] [Abstract][Full Text] [Related]
13. Fast Assays to Detect Interruptions in CTG.CAG Repeat Expansions.
Tomé S; Gourdon G
Methods Mol Biol; 2020; 2056():11-23. PubMed ID: 31586339
[TBL] [Abstract][Full Text] [Related]
14. Polymerase chain reaction-based analysis using deaminated DNA of dodecamer expansions in CSTB, associated with Unverricht-Lundborg myoclonus epilepsy.
Horiuchi H; Osawa M; Furutani R; Morita M; Tian W; Awatsu Y; Shimazaki H; Umetsu K
Genet Test; 2005; 9(4):328-33. PubMed ID: 16379547
[TBL] [Abstract][Full Text] [Related]
15. Characterization of large CTG repeat expansions in myotonic dystrophy alleles using PCR.
Cheng S; Barceló JM; Korneluk RG
Hum Mutat; 1996; 7(4):304-10. PubMed ID: 8723679
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Single-cell analysis of unstable genes.
Daniels R; Holding C; Kontogianni E; Monk M
J Assist Reprod Genet; 1996 Feb; 13(2):163-9. PubMed ID: 8688590
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy.
Gennarelli M; Pavoni M; Amicucci P; Novelli G; Dallapiccola B
Diagn Mol Pathol; 1998 Jun; 7(3):135-7. PubMed ID: 9836067
[TBL] [Abstract][Full Text] [Related]
20. Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients.
Joensuu T; Kuronen M; Alakurtti K; Tegelberg S; Hakala P; Aalto A; Huopaniemi L; Aula N; Michellucci R; Eriksson K; Lehesjoki AE
Eur J Hum Genet; 2007 Feb; 15(2):185-93. PubMed ID: 17003839
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
