1. Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

   • C. D. Coldren
   • Z. Lai
   • P. D. Grossfeld

   Original Article 15 October 2008 Pages: 89 - 95

   

2. Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

   • Rebecca Schüle
   • Elisabeth Brandt
   • Christian Beetz

   Original Article 15 October 2008 Pages: 97 - 104

   

3. New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)

   • Channa Hewamadduma
   • Christopher McDermott
   • Pamela Shaw

   Original Article 26 November 2008 Pages: 105 - 110

   

4. Familial risks for amyotrophic lateral sclerosis and autoimmune diseases

   • Kari Hemminki
   • Xinjun Li
   • Kristina Sundquist

   Original Article 17 December 2008 Pages: 111 - 116

   

5. Gene expression in blood of subjects with Duchenne muscular dystrophy

   • Brenda Wong
   • Donald L. Gilbert
   • Frank R. Sharp

   Original Article 09 December 2008 Pages: 117 - 125

   

6. The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

   • Yann Fichou
   • Juliette Nectoux
   • Thierry Bienvenu

   Original Article 26 November 2008 Pages: 127 - 133

   

7. A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated

   • Thorsten Hornemann
   • Anke Penno
   • Arnold von Eckardstein

   Original Article 09 January 2009 Pages: 135 - 143

   

8. Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

   • Julien Cassereau
   • Arnaud Chevrollier
   • Pascal Reynier

   Short Communication 17 December 2008 Pages: 145 - 150

   

9. An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss

   • Alessandra Terracciano
   • Carlo Casali
   • Filippo M. Santorelli

   Short Communication 20 November 2008 Pages: 151 - 155

   

10. LRRK2 G2019S and R1441G mutations associated with Parkinson’s disease are common in the Basque Country, but relative prevalence is determined by ethnicity

    • A. Gorostidi
    • J. Ruiz-Martínez
    • J. F. Martí Massó

    Short Communication 20 November 2008 Pages: 157 - 159

11. Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis

    • Sara Sebnem Kilic
    • Rifatcan Ozturk
    • Vincent Timmerman

    Short Communication 17 December 2008 Pages: 161 - 165

    

12. Comment on the article “Heterogeneous dysregulation of microRNAs across the autism spectrum” by Abu-Elneel et al.

    • Steven Buyske

    Letter to the Editors 24 February 2009 Pages: 167 - 167

13. Reply to the “Letter to the Editors” by Steven Buyske

    • K. Abu-Elneel
    • T. Liu
    • K. S. Kosik

    Letter to the Editors Open access 24 February 2009 Pages: 169 - 170

14. Robust quantification of the SMN gene copy number by real-time TaqMan PCR

    • Ilsa Gómez-Curet
    • Karyn G. Robinson
    • Wenlan Wang

    Erratum 24 February 2009 Pages: 171 - 172