Novel recessive myotilin mutation causes severe myofibrillar myopathy Joachim SchesslElisa BachBenedikt Schoser Short Communication 14 June 2014 Pages: 151 - 156
AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset L. ArmstrongR. BiancheriC. D. M. van Karnebeek Short Communication 24 June 2014 Pages: 157 - 159
A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy Alireza KashaniIsabelle ThiffaultGeneviève Bernard Short Communication 21 June 2014 Pages: 161 - 164
Genetic variants in IL2RA and IL7R affect multiple sclerosis disease risk and progression Anthony L. TraboulseeCecily Q. BernalesCarles Vilariño-Güell Original Article 26 April 2014 Pages: 165 - 169
Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy Mi-Hyun ParkHae-Mi WooSoo Kyung Koo Original Article Open access 10 May 2014 Pages: 171 - 182
PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family Simone OlgiatiAnna De RosaVincenzo Bonifati Original Article 10 May 2014 Pages: 183 - 188
The PD-associated alpha-synuclein promoter Rep1 allele 2 shows diminished frequency in restless legs syndrome Suna LahutDavid VadaszGeorg Auburger Original Article 27 May 2014 Pages: 189 - 192
Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3 Mitsuko NakashimaHirofumi KashiiNaomichi Matsumoto Original Article 08 June 2014 Pages: 193 - 200
‘Neuroinflammation’ differs categorically from inflammation: transcriptomes of Alzheimer's disease, Parkinson's disease, schizophrenia and inflammatory diseases compared Michaela D. FiliouAhmed Shamsul ArefinManuel B. Graeber Original Article 15 June 2014 Pages: 201 - 212
Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient Charles D. KassardjianMargherita Milone Letter to the Editor 05 April 2014 Pages: 213 - 214
Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification Gaël NicolasAnne-Claire RichardDidier Hannequin Letter to the Editors 27 April 2014 Pages: 215 - 216
