Orphanet Journal of Rare Diseases | Home page

Orphanet Journal of Rare Diseases | Home page

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

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1. RESEARCH

   Common disease signatures from gene expression analysis in Huntington’s disease human blood and brain

   Eleni Mina, Willeke van Roon-Mom, Kristina Hettne, Erik van Zwet, Jelle Goeman, Christian Neri, Peter A.C. ’t Hoen, Barend Mons and Marco Roos

   Published on: 1 August 2016
2. RESEARCH

   ROHHAD syndrome and evolution of sleep disordered breathing

   Diana Reppucci, Jill Hamilton, E Ann Yeh, Sherri Katz, Suhail Al-Saleh and Indra Narang

   Published on: 30 July 2016
3. RESEARCH

   Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study

   Sarah Wente, Simone Schröder, Johannes Buckard, Hans-Martin Büttel, Florian von Deimling, Wilfried Diener, Martin Häussler, Susanne Hübschle, Silvia Kinder, Gerhard Kurlemann, Christoph Kretzschmar, Michael Lingen, Wiebke Maroske, Dirk Mundt, Iciar Sánchez-Albisua, Jürgen Seeger…

   Published on: 29 July 2016
4. RESEARCH

   Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy

   Saskia Maria Gehrig, Violeta Mihaylova, Sebastian Frese, Sandro Manuel Mueller, Maria Ligon-Auer, Christina M. Spengler, Jens A. Petersen, Carsten Lundby and Hans H. Jung

   Published on: 29 July 2016
5. RESEARCH

   Early pancreatic volume reduction on CT predicts relapse in patients with type 1 autoimmune pancreatitis treated with steroids

   Yoshinori Ohno, Teru Kumagi, Tomoyuki Yokota, Nobuaki Azemoto, Yoshinori Tanaka, Kazuhiro Tange, Nobu Inada, Hideki Miyata, Yoshiki Imamura, Mitsuhito Koizumi, Taira Kuroda and Yoichi Hiasa

   Published on: 28 July 2016

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