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. ColdrenZ. LaiP. D. Grossfeld Original Article 15 October 2008 Pages: 89 - 95
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia Rebecca SchüleElisabeth BrandtChristian Beetz Original Article 15 October 2008 Pages: 97 - 104
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) Channa HewamaddumaChristopher McDermottPamela Shaw Original Article 26 November 2008 Pages: 105 - 110
Familial risks for amyotrophic lateral sclerosis and autoimmune diseases Kari HemminkiXinjun LiKristina Sundquist Original Article 17 December 2008 Pages: 111 - 116
Gene expression in blood of subjects with Duchenne muscular dystrophy Brenda WongDonald L. GilbertFrank R. Sharp Original Article 09 December 2008 Pages: 117 - 125
The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform Yann FichouJuliette NectouxThierry Bienvenu Original Article 26 November 2008 Pages: 127 - 133
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated Thorsten HornemannAnke PennoArnold von Eckardstein Original Article 09 January 2009 Pages: 135 - 143
Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K) Julien CassereauArnaud ChevrollierPascal Reynier Short Communication 17 December 2008 Pages: 145 - 150
An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss Alessandra TerraccianoCarlo CasaliFilippo M. Santorelli Short Communication 20 November 2008 Pages: 151 - 155
LRRK2 G2019S and R1441G mutations associated with Parkinson’s disease are common in the Basque Country, but relative prevalence is determined by ethnicity A. GorostidiJ. Ruiz-MartínezJ. F. Martí Massó Short Communication 20 November 2008 Pages: 157 - 159
Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis Sara Sebnem KilicRifatcan OzturkVincent Timmerman Short Communication 17 December 2008 Pages: 161 - 165
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
Reply to the “Letter to the Editors” by Steven Buyske K. Abu-ElneelT. LiuK. S. Kosik Letter to the Editors Open access 24 February 2009 Pages: 169 - 170
Robust quantification of the SMN gene copy number by real-time TaqMan PCR Ilsa Gómez-CuretKaryn G. RobinsonWenlan Wang Erratum 24 February 2009 Pages: 171 - 172
