Volume 13, Issue 4, November 2012

ISSN: 1364-6745 (Print) 1364-6753 (Online)

In this issue (9 articles)

  1. No Access

    Review article

    Mammalian sleep genetics

    Jessica M. Kelly, Matt T. Bianchi Pages 287-326
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  2. No Access

    Short Communication

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

    Yoshinori Tsurusaki, Shinji Saitoh, Kazuhiro Tomizawa, Akira Sudo… Pages 327-332
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  3. No Access

    Short Communication

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

    Sandesh C. S. Nagamani, Ayelet Erez, Frank J. Probst, Patricia Bader… Pages 333-339
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  4. No Access

    Short Communication

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

    A. Terracciano, N. Specchio, F. Darra, A. Sferra, B. Dalla Bernardina… Pages 341-345
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  5. No Access

    Original Article

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

    Oihane Jaka, Irina Kramerova, Margarita Azpitarte, Adolfo López de Munain… Pages 347-357
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  6. No Access

    Original Article

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

    Shoko Tokunaga, Akihiro Hashiguchi, Akiko Yoshimura, Kengo Maeda… Pages 359-365
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  7. No Access

    Original Article

    Mosaic DCX deletion causes subcortical band heterotopia in males

    Chloé Quélin, Yoann Saillour, Isabelle Souville, Karine Poirier… Pages 367-373
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  8. No Access

    Original Article

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

    Alessandra Torraco, Daniela Verrigni, Teresa Rizza, Maria Chiara Meschini… Pages 375-386
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  9. ACKNOWLEDGEMENT TO REFEREES

    Acknowledgement to Referees 2011/2012

    Page 387
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