140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management

@article{Udd2006140thEI,
  title={140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management},
  author={B. Udd and G. Meola and R. Krahe and C. Thornton and R. Moxley},
  journal={Neuromuscular Disorders},
  year={2006},
  volume={16},
  pages={403-413}
}
  • B. Udd, G. Meola, +2 authors R. Moxley
  • Published 2006
  • Medicine
  • Neuromuscular Disorders
  • 106 Citations

    Topics from this paper

    Myotonic dystrophy type 2. The challenging diagnosis of a complex disease
    • Highly Influenced
    Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.
    • Highly Influenced
    Assessing the influence of age and gender on the phenotype of myotonic dystrophy type 2
    • 17
    • Highly Influenced
    Unusual structures of CCTG repeats and their participation in repeat expansion
    • 3
    • Highly Influenced
    New insights into the genetic instability in CCTG repeats
    • 13
    • Highly Influenced
    Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families
    • 17
    • Highly Influenced
    Mutant (CCTG)n expansion causes abnormal expression of zinc finger protein 9 (ZNF9) in myotonic dystrophy type 2.
    • 59
    High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany
    • 49
    Myotonic dystrophy
    • PDF

    References

    SHOWING 1-10 OF 33 REFERENCES
    Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2).
    • 43
    Glucose metabolism and dopamine PET correlates in a patient with myotonic dystrophy type 2 and parkinsonism
    • 8
    Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease
    • 67
    [Myotonic dystrophy].
    • E. Nanba
    • Medicine
    • Nihon rinsho. Japanese journal of clinical medicine
    • 2005
    • 938
    • PDF
    Homozygosity for CCTG mutation in myotonic dystrophy type 2.
    • 54
    • PDF
    Myotonic dystrophy: RNA pathogenesis comes into focus.
    • L. Ranum, J. Day
    • Biology, Medicine
    • American journal of human genetics
    • 2004
    • 212
    • PDF