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5 (0,057s)

Projekt

DNA - diagnosis of Myotonic Dystrophy. (NE5916)

The study introducing molecular genetic diagnostic of myotonic dystrophy (MD) for czech patients.The diagnostic is based on negative selection of Md patients by nonradioactie PCR and conseqently,by RFLP to detect a MD diagnose.......

FH - Neurologie, neurochirurgie, neurovědy

  • 2000 - 2002
  • 1 529 tis. Kč
  • 1 519 tis. Kč
  • MZ
Projekt

Functional and molecular genetic testing, imaging, and clinical follow-up of patients with myotonic dystrophies (NF6499)

Aplication of molecular genetic testing for a DM1 locus, a DMPK-neighbouring gene DMAHP, and a DM2 locus can help to improve differential diagnostics and management of patients with myotonic dystrophies characterized by variable clinical pic...

FH - Neurologie, neurochirurgie, neurovědy

  • 2001 - 2003
  • 1 836 tis. Kč
  • 1 827 tis. Kč
  • MZ
Projekt

DIFFERENTIAL DIAGNOSIS OF MYOTONIC DYSTROPHY DM1 AND DM2 BY INTRODUCTION OF FLUORESCENT IN SITU HYBRIDIZATION METHODS. (NR8052)

The proposed project aims to introduce FISH using fluorescently labeled oligonucleotide probes for detection the expanded repetitive sequences CTG and CCTG in the DMPK gene and ZNF9 gene resp. which are connected with DM1 and DM2. The mutations respo...

FH - Neurologie, neurochirurgie, neurovědy

  • 2004 - 2006
  • 2 367 tis. Kč
  • 2 162 tis. Kč
  • MZ
Projekt

The expression of DMPK mRNA and DMPK protein in normal human tissues and the presence of nuclear foci containing (CUG)n and (CCUG)n expanded transcripts of DMPK in tissues of patients with myotonic (NS9877)

In order to better characterize the role of DMPK loss and the effects of CUG repeat expression in the development of DM pathology, we plan (1) to establish the identity of normal tissues and cell types in which the DMPK protein and the DMPK mRNA are ...

FH - Neurologie, neurochirurgie, neurovědy

  • 2008 - 2011
  • 1 962 tis. Kč
  • 1 962 tis. Kč
  • MZ
Projekt

Recognition and Validation of Druggable Targets from the Response to Cognitive Behaviour Therapy in Myotonic Dystrophy type 1 patients from Integrated -Omics Networks (8F19001)

IRDiRC targets. "1000 new therapies for rare diseases - molecular biomarkers for CBT, CBT life-style interventions"....

Health-related biotechnology

  • 2019 - 2021
  • 5 099 tis. Kč
  • 5 099 tis. Kč
  • MŠMT
  • 1 - 5 z 5