1. Mammalian sleep genetics

   • Jessica M. Kelly
   • Matt T. Bianchi

   Review article 14 September 2012 Pages: 287 - 326

2. A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

   • Yoshinori Tsurusaki
   • Shinji Saitoh
   • Naomichi Matsumoto

   Short Communication 31 July 2012 Pages: 327 - 332

   

3. Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function

   • Sandesh C. S. Nagamani
   • Ayelet Erez
   • Sau Wai Cheung

   Short Communication 14 August 2012 Pages: 333 - 339

   

4. Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR

   • A. Terracciano
   • N. Specchio
   • E. Bertini

   Short Communication 06 September 2012 Pages: 341 - 345

   

5. C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging

   • Oihane Jaka
   • Irina Kramerova
   • Amets Sáenz

   Original Article 22 July 2012 Pages: 347 - 357

   

6. Late-onset Charcot–Marie–Tooth disease 4F caused by periaxin gene mutation

   • Shoko Tokunaga
   • Akihiro Hashiguchi
   • Hiroshi Takashima

   Original Article 01 August 2012 Pages: 359 - 365

   

7. Mosaic DCX deletion causes subcortical band heterotopia in males

   • Chloé Quélin
   • Yoann Saillour
   • Nadia Bahi-Buisson

   Original Article 26 July 2012 Pages: 367 - 373

   

8. TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis

   • Alessandra Torraco
   • Daniela Verrigni
   • Rosalba Carrozzo

   Original Article 18 September 2012 Pages: 375 - 386

   

9. Acknowledgement to Referees 2011/2012

   ACKNOWLEDGEMENT TO REFEREES 11 October 2012 Pages: 387 - 387