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myotonic dystrophy - IDMC.org

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Scientific Programme Thursday October 20 th AM<br />

Room :<br />

Borduas<br />

<strong>IDMC</strong>-5<br />

Third Floor<br />

SESSION 1 : DNA INSTABILITY, DIAGNOSIS AND MODEL OF MYOTONIC DYSTROPHY<br />

Session chairs : G. Gourdon and C. Pearson<br />

8 h 30<br />

1) Cellular factors that determine (CTG)n hypermutability in DM1<br />

Wieringa, Be et al.<br />

8 h 40<br />

2) The behavior of triplet repeats in human embryonic stem cells<br />

De Temmerman N. et al.<br />

8 h 50<br />

3) The expanded CTG/CAG repeat in <strong>myotonic</strong> <strong>dystrophy</strong> type 1 continues to expand in<br />

non-dividing cells<br />

Monckton D.G. et al.<br />

9 h<br />

4) A role for DNA replication and DNA repair in CTG instability at the DM1 locus<br />

Cleary J.D. et al.<br />

9 h 10<br />

5) Prenatal diagnosis in <strong>myotonic</strong> <strong>dystrophy</strong> type 1 (DM1) : the Spanish experience<br />

Martorell L. et al.<br />

9 h 20<br />

6) Intergenerational contraction of the CTG repeats in large families with <strong>myotonic</strong><br />

<strong>dystrophy</strong>.<br />

Puymirat J. et al.<br />

9 h 30<br />

7) Assessment of in situ hybridization for molecular diagnosis of <strong>myotonic</strong> <strong>dystrophy</strong> type 2<br />

(DM2) : pattern of tissue detection and new phenotype<br />

Bassez G. et al.<br />

9 h 40<br />

8) Identification of a novel locus for <strong>myotonic</strong> <strong>dystrophy</strong> in human chromosome 16<br />

Krahe R. et al.<br />

9 h 50<br />

9) Identification of a candidate gene for a multisystem <strong>myotonic</strong> disorder with<br />

frontotemporal dementia linked to 15q21-24 chromosome (DM3)<br />

Bonifazi E. et al.<br />

10 h -10 h 20<br />

Tea/coffee break<br />

10 <strong>IDMC</strong>-5

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