Call for participation in the neurogenetics consortium within the Human Variome Project Andrea HaworthLars BertramMaria-Jesus Sobrido NEUROGENETICS NEWS 01 June 2011 Pages: 169 - 173
Pathological mechanisms and parent-of-origin effects in hereditary paraganglioma/pheochromocytoma (PGL/PCC) Ulrich Müller REVIEW ARTICLE 09 March 2011 Pages: 175 - 181
Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant Luisa ArrabalLibertad TeresaLourdes R. Desviat ORIGINAL ARTICLE 24 March 2011 Pages: 183 - 191
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients Barbara CastellottiCaterina MariottiCinzia Gellera Original Article 05 April 2011 Pages: 193 - 201
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia Marialuisa QuadriGiovanni CossuVincenzo Bonifati ORIGINAL ARTICLE Open access 11 June 2011 Pages: 203 - 209
Differentially expressed genes in hypothalamus in relation to genomic regions under selection in two chicken lines resulting from divergent selection for high or low body weight Sojeong KaFrank W. AlbertFinn Hallböök ORIGINAL ARTICLE 12 July 2011 Pages: 211 - 221
A novel mitofusin 2 mutation causes canine fetal-onset neuroaxonal dystrophy John C. FyfeRabá A. Al-TamimiPaula S. Henthorn ORIGINAL ARTICLE 04 June 2011 Pages: 223 - 232
Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion Antonio PizzutiIrene BottilloBruno Dallapiccola SHORT COMMUNICATION 02 March 2011 Pages: 233 - 240
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy–Walker malformation carrying a de novo 8p deletion Ginevra ZanniSabina BarresiEnrico Silvio Bertini SHORT COMMUNICATION 12 April 2011 Pages: 241 - 245
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel Shoaib ur RehmanShahid Mahmood BaigLars Hansen SHORT COMMUNICATION 04 June 2011 Pages: 247 - 251
Audiogenic seizure proneness requires the contribution of two susceptibility loci in mice M. Catharine JawaharCarolina I. SariMark Murphy SHORT COMMUNICATION 18 June 2011 Pages: 253 - 257
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5 Takashi MatsukawaXuemin WangShoji Tsuji Letter to the Editors 12 April 2011 Pages: 259 - 261
