1. A FOXG1 mutation in a boy with congenital variant of Rett syndrome

   • Tangui Le Guen
   • Nadia Bahi-Buisson
   • Thierry Bienvenu

   ORIGINAL ARTICLE 24 August 2010 Pages: 1 - 8

   

2. Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

   • Mariana Ferreira
   • Alessandra Torraco
   • Enrico Bertini

   Original Article 04 January 2011 Pages: 9 - 17

   

3. Hydroxyurea enhances SMN2 gene expression through nitric oxide release

   • Cheng Xu
   • Xin Chen
   • Ching H. Wang

   ORIGINAL ARTICLE 22 December 2010 Pages: 19 - 24

   

4. Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family

   • Shiroh Miura
   • Hiroki Shibata
   • Yasuyuki Fukumaki

   ORIGINAL ARTICLE 22 September 2010 Pages: 25 - 31

   

5. Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

   • Lucio Santoro
   • Guido J. Breedveld
   • Vincenzo Bonifati

   ORIGINAL ARTICLE Open access 21 September 2010 Pages: 33 - 39

   

6. Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypes

   • Takashi Matsukawa
   • Muriel Asheuer
   • Shoji Tsuji

   ORIGINAL ARTICLE Open access 27 July 2010 Pages: 41 - 50

   

7. Inheritance of Charcot–Marie–Tooth disease 1A with rare nonrecurrent genomic rearrangement

   • Byung-Ok Choi
   • Nam Keun Kim
   • Ki Wha Chung

   ORIGINAL ARTICLE 31 December 2010 Pages: 51 - 58

   

8. The effect of SNCA 3′ region on the levels of SNCA-112 splicing variant

   • Jeanette J. McCarthy
   • Colton Linnertz
   • Ornit Chiba-Falek

   ORIGINAL ARTICLE 03 November 2010 Pages: 59 - 64

   

9. Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms

   • Jens Schuster
   • Jimmy Sundblom
   • Niklas Dahl

   ORIGINAL ARTICLE 12 January 2011 Pages: 65 - 72

   

10. A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22

    • Eliane Chouery
    • Valérie Delague
    • André Mégarbané

    ORIGINAL ARTICLE 19 August 2010 Pages: 73 - 78

    

11. OCT1 polymorphism is associated with response and survival time in anti-Parkinsonian drug users

    • Matthijs L. Becker
    • Loes E. Visser
    • Bruno H. Ch. Stricker

    SHORT COMMUNICATION Open access 01 August 2010 Pages: 79 - 82

    

12. Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3

    • Elisa Schleider
    • Sonja Stahl
    • Ute Felbor

    SHORT COMMUNICATION Open access 23 September 2010 Pages: 83 - 86

    

13. Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype

    • Fabienne Clot
    • David Grabli
    • Alexis Brice

    LETTER TO THE EDITORS 26 November 2010 Pages: 87 - 89

14. Confirmed association between monoamine oxidase A molecular polymorphisms and Sudden Infant Death Syndrome

    • Laura Filonzi
    • Cinzia Magnani
    • Francesco Nonnis Marzano

    LETTER TO THE EDITORS 07 September 2010 Pages: 91 - 92

15. A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis

    • Yu-Liang Wang
    • Zhi-Yong Zeng
    • Wei-Ping Liao

    LETTER TO THE EDITORS 07 September 2010 Pages: 93 - 95