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
    • View on Elsevier
    doi.org
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    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
    • 66
    [Myotonic dystrophy].
    • E. Nanba
    • Medicine
    • Nihon rinsho. Japanese journal of clinical medicine
    • 2005
    • 926
    • PDF
    A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.
    • 44
    • PDF
    Cardiac and skeletal muscle involvement in myotonic dystrophy type 2 (DM2): A quantitative 31P‐MRS and MRI study
    • 25
    Homozygosity for CCTG mutation in myotonic dystrophy type 2.
    • 54
    • PDF
    Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
    • 1,165
    • PDF
    Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons.
    • 423
    • PDF
    Myotonic dystrophy: RNA pathogenesis comes into focus.
    • L. Ranum, J. Day
    • Biology, Medicine
    • American journal of human genetics
    • 2004
    • 210
    • PDF