1. Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly

   • Ayse Guven
   • Aysegul Gunduz
   • Aslıhan Tolun

   Original Article 15 April 2012 Pages: 189 - 194

   

2. TRPV4 mutations in children with congenital distal spinal muscular atrophy

   • Chiara Fiorillo
   • Francesca Moro
   • Claudio Bruno

   Original Article 25 April 2012 Pages: 195 - 203

   

3. 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 Mancini
   • Giovanna Vaula
   • Alfredo Brusco

   Original Article 03 May 2012 Pages: 205 - 214

   

4. A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes

   • Claudia Dufke
   • Nina Schlipf
   • Peter Bauer

   Original Article 03 May 2012 Pages: 215 - 227

5. Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletions

   • Hildegard Kehrer-Sawatzki
   • Julia Vogt
   • Victor-Felix Mautner

   Original Article 13 May 2012 Pages: 229 - 236

   

6. Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type

   • Makiko Taira
   • Hiroyuki Ishiura
   • Shoji Tsuji

   Original Article 24 May 2012 Pages: 237 - 243

   

7. New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset

   • María del Mar O’Callaghan
   • Sonia Emperador
   • Julio Montoya

   Original Article 26 May 2012 Pages: 245 - 250

   

8. A novel binding protein of single-minded 2: the mitotic arrest-deficient protein MAD2B

   • Xianfang Meng
   • Xiujuan Tian
   • Chun Zhang

   Original Article 02 June 2012 Pages: 251 - 260

   

9. A genome-wide analysis of 'Bounty' descendants implicates several novel variants in migraine susceptibility

   • Hannah C. Cox
   • Rod A. Lea
   • Lyn R. Griffiths

   Original Article 08 June 2012 Pages: 261 - 266

10. RNA-based analysis of two SMARCB1 mutations associated with familial schwannomatosis with meningiomas

    • German Melean
    • Ana Velasco
    • Concepción Hernández-Chico

    Original Article 01 July 2012 Pages: 267 - 274

    

11. A novel double mutation in cis in MFN2 causes Charcot–Marie–Tooth neuropathy type 2A

    • Su-Yeon Park
    • So Yeon Kim
    • Sung Sup Park

    Short Communication 20 April 2012 Pages: 275 - 280

    

12. Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson’s disease

    • Eva C. Schulte
    • Brit Mollenhauer
    • Juliane Winkelmann

    Short Communication 16 June 2012 Pages: 281 - 285