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} }
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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).
- Biology, Medicine
- Biochimica et biophysica acta
- 2006
- 43
Glucose metabolism and dopamine PET correlates in a patient with myotonic dystrophy type 2 and parkinsonism
- Psychology, Medicine
- Journal of Neurology, Neurosurgery & Psychiatry
- 2006
- 8
A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.
- Medicine
- Brain : a journal of neurology
- 2004
- 44
- PDF
Cardiac and skeletal muscle involvement in myotonic dystrophy type 2 (DM2): A quantitative 31P‐MRS and MRI study
- Medicine
- Muscle & nerve
- 2004
- 25
Homozygosity for CCTG mutation in myotonic dystrophy type 2.
- Biology, Medicine
- Brain : a journal of neurology
- 2004
- 54
- PDF
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
- Biology, Medicine
- Nature Genetics
- 2004
- 1,169
- PDF
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons.
- Biology, Medicine
- Human molecular genetics
- 2004
- 427
- PDF
Myotonic dystrophy: RNA pathogenesis comes into focus.
- Biology, Medicine
- American journal of human genetics
- 2004
- 212
- PDF