A FOXG1 mutation in a boy with congenital variant of Rett syndrome Tangui Le GuenNadia Bahi-BuissonThierry Bienvenu ORIGINAL ARTICLE 24 August 2010 Pages: 1 - 8
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1 Mariana FerreiraAlessandra TorracoEnrico Bertini Original Article 04 January 2011 Pages: 9 - 17
Hydroxyurea enhances SMN2 gene expression through nitric oxide release Cheng XuXin ChenChing H. Wang ORIGINAL ARTICLE 22 December 2010 Pages: 19 - 24
Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family Shiroh MiuraHiroki ShibataYasuyuki Fukumaki ORIGINAL ARTICLE 22 September 2010 Pages: 25 - 31
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability Lucio SantoroGuido J. BreedveldVincenzo Bonifati ORIGINAL ARTICLE Open access 21 September 2010 Pages: 33 - 39
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 MatsukawaMuriel AsheuerShoji Tsuji ORIGINAL ARTICLE Open access 27 July 2010 Pages: 41 - 50
Inheritance of Charcot–Marie–Tooth disease 1A with rare nonrecurrent genomic rearrangement Byung-Ok ChoiNam Keun KimKi Wha Chung ORIGINAL ARTICLE 31 December 2010 Pages: 51 - 58
The effect of SNCA 3′ region on the levels of SNCA-112 splicing variant Jeanette J. McCarthyColton LinnertzOrnit Chiba-Falek ORIGINAL ARTICLE 03 November 2010 Pages: 59 - 64
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms Jens SchusterJimmy SundblomNiklas Dahl ORIGINAL ARTICLE 12 January 2011 Pages: 65 - 72
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22 Eliane ChoueryValérie DelagueAndré Mégarbané ORIGINAL ARTICLE 19 August 2010 Pages: 73 - 78
OCT1 polymorphism is associated with response and survival time in anti-Parkinsonian drug users Matthijs L. BeckerLoes E. VisserBruno H. Ch. Stricker SHORT COMMUNICATION Open access 01 August 2010 Pages: 79 - 82
Evidence for anti-angiogenic and pro-survival functions of the cerebral cavernous malformation protein 3 Elisa SchleiderSonja StahlUte Felbor SHORT COMMUNICATION Open access 23 September 2010 Pages: 83 - 86
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype Fabienne ClotDavid GrabliAlexis Brice LETTER TO THE EDITORS 26 November 2010 Pages: 87 - 89
Confirmed association between monoamine oxidase A molecular polymorphisms and Sudden Infant Death Syndrome Laura FilonziCinzia MagnaniFrancesco Nonnis Marzano LETTER TO THE EDITORS 07 September 2010 Pages: 91 - 92
A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis Yu-Liang WangZhi-Yong ZengWei-Ping Liao LETTER TO THE EDITORS 07 September 2010 Pages: 93 - 95