Orphanet Journal of Rare Diseases

Orphanet Journal of Rare Diseases

The following new articles have just been published in Orphanet Journal of Rare Diseases

For articles using Author Version-first publication you will see a provisional PDF corresponding to the accepted manuscript. In these instances, the fully formatted Final Version PDF and full text (HTML) versions will follow in due course.

Letter to the Editor  

Drug repositioning can accelerate discovery of pharmacological chaperones

Hay Mele B, Citro V, Andreotti G, Cubellis M

Orphanet Journal of Rare Diseases 2015, 10 :55 (7 May 2015)

Abstract | Provisional PDF

Research  

CMTX1 patients’ cells present genomic instability corrected by CamKII inhibitors

Saleh M, Burkhardt G, Benoit B, Alexandre A, Peter Y, Frederic B, Marc F, Franck P, Michel F

Orphanet Journal of Rare Diseases 2015, 10 :56 (7 May 2015)

Abstract | Provisional PDF