Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly Ayse GuvenAysegul GunduzAslıhan Tolun Original Article 15 April 2012 Pages: 189 - 194
TRPV4 mutations in children with congenital distal spinal muscular atrophy Chiara FiorilloFrancesca MoroClaudio Bruno Original Article 25 April 2012 Pages: 195 - 203
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide Cecilia ManciniGiovanna VaulaAlfredo Brusco Original Article 03 May 2012 Pages: 205 - 214
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes Claudia DufkeNina SchlipfPeter Bauer Original Article 03 May 2012 Pages: 215 - 227
Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions Hildegard Kehrer-SawatzkiJulia VogtVictor-Felix Mautner Original Article 13 May 2012 Pages: 229 - 236
Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type Makiko TairaHiroyuki IshiuraShoji Tsuji Original Article 24 May 2012 Pages: 237 - 243
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset María del Mar O’CallaghanSonia EmperadorJulio Montoya Original Article 26 May 2012 Pages: 245 - 250
A novel binding protein of single-minded 2: the mitotic arrest-deficient protein MAD2B Xianfang MengXiujuan TianChun Zhang Original Article 02 June 2012 Pages: 251 - 260
A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility Hannah C. CoxRod A. LeaLyn R. Griffiths Original Article 08 June 2012 Pages: 261 - 266
RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas German MeleanAna VelascoConcepción Hernández-Chico Original Article 01 July 2012 Pages: 267 - 274
A novel double mutation in cis in MFN2 causes Charcot–Marie–Tooth neuropathy type 2A Su-Yeon ParkSo Yeon KimSung Sup Park Short Communication 20 April 2012 Pages: 275 - 280
Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson’s disease Eva C. SchulteBrit MollenhauerJuliane Winkelmann Short Communication 16 June 2012 Pages: 281 - 285