Volume 14, Issue 1, February 2013

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

In this issue (10 articles)

  1. No Access

    Review article

    Splice variants of the Alzheimer’s disease beta-secretase, BACE1

    R. M. Damian Holsinger, Nelleke Goense, John Bohorquez, Padraig Strappe Pages 1-9
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  2. No Access

    Original Article

    Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Sandy Chan Hsu, Renee L. Sears, Roberta R. Lemos, Beatriz Quintáns… Pages 11-22
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  3. No Access

    Original Article

    Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

    J. J. T. van Harssel, S. Weckhuysen, M. J. A. van Kempen, K. Hardies… Pages 23-34
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  4. No Access

    Original Article

    Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2

    B.-O. Choi, M.-H. Park, K. W. Chung, H.-M. Woo, H. Koo, H.-K. Chung… Pages 35-42
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  5. No Access

    Original Article

    Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations

    Cathryn Poulton, Renske Oegema, Daphne Heijsman, Jeannette Hoogeboom… Pages 43-51
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    Short Communication

    The SETX missense variation spectrum as evaluated in patients with ALS4-like motor neuron diseases

    Larissa Arning, Jörg T. Epplen, Elisa Rahikkala, Corinna Hendrich… Pages 53-61
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  7. Short Communication

    Comprehensive cytogenomic profile of the in vitro neuronal model SH-SY5Y

    Mohammed Yusuf, Kay Leung, Keith J. Morris, Emanuela V. Volpi Pages 63-70
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    Short Communication

    Refining the phenotype associated with MEF2C point mutations

    Thierry Bienvenu, Bertrand Diebold, Jamel Chelly, Bertrand Isidor Pages 71-75
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  9. No Access

    Original Article

    Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

    Carlo C. Quattrocchi, Ginevra Zanni, Antonio Napolitano, Daniela Longo… Pages 77-83
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  10. No Access

    Letter to the Editors

    Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis

    Dennis Lal, Kerstin Becker, Susanne Motameny, Janine Altmüller… Pages 85-87
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