Mammalian sleep genetics Jessica M. KellyMatt T. Bianchi Review article 14 September 2012 Pages: 287 - 326
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance Yoshinori TsurusakiShinji SaitohNaomichi Matsumoto Short Communication 31 July 2012 Pages: 327 - 332
Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function Sandesh C. S. NagamaniAyelet ErezSau Wai Cheung Short Communication 14 August 2012 Pages: 333 - 339
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR A. TerraccianoN. SpecchioE. Bertini Short Communication 06 September 2012 Pages: 341 - 345
C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging Oihane JakaIrina KramerovaAmets Sáenz Original Article 22 July 2012 Pages: 347 - 357
Late-onset Charcot–Marie–Tooth disease 4F caused by periaxin gene mutation Shoko TokunagaAkihiro HashiguchiHiroshi Takashima Original Article 01 August 2012 Pages: 359 - 365
Mosaic DCX deletion causes subcortical band heterotopia in males Chloé QuélinYoann SaillourNadia Bahi-Buisson Original Article 26 July 2012 Pages: 367 - 373
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis Alessandra TorracoDaniela VerrigniRosalba Carrozzo Original Article 18 September 2012 Pages: 375 - 386