A novel locus for restless legs syndrome maps to chromosome 19p in an Irish pedigreeSKEHAN, Evelyn B; ABDULRAHIM, Manal M. A; PARFREY, Nollaig A et al.Neurogenetics (Oxford. Print). 2012, Vol 13, Num 2, pp 125-132, issn 1364-6745, 8 p.Article

Dissecting the clinical phenotype associated with mosaic type-2 NF1 microdeletionsKEHRER-SAWATZKI, Hildegard; VOGT, Julia; MUSSOTTER, Tanja et al.Neurogenetics (Oxford. Print). 2012, Vol 13, Num 3, pp 229-236, issn 1364-6745, 8 p.Article

Late-onset Charcot―Marie―Tooth disease 4F caused by periaxin gene mutationTOKUNAGA, Shoko; HASHIGUCHI, Akihiro; YOSHIMURA, Akiko et al.Neurogenetics (Oxford. Print). 2012, Vol 13, Num 4, pp 359-365, issn 1364-6745, 7 p.Article

Mosaic DCX deletion causes subcortical band heterotopia in malesQUELIN, Chloé; SAILLOUR, Yoann; BELDJORD, Cherif et al.Neurogenetics (Oxford. Print). 2012, Vol 13, Num 4, pp 367-373, issn 1364-6745, 7 p.Article

New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onsetMAR O'CALLAGHAN, Maria Del; EMPERADOR, Sonia; RUIZ-PESINI, Eduardo et al.Neurogenetics (Oxford. Print). 2012, Vol 13, Num 3, pp 245-250, issn 1364-6745, 6 p.Article

Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephalyGUVEN, Ayse; GUNDUZ, Aysegul; BOZOGLU, Tarik M et al.Neurogenetics (Oxford. Print). 2012, Vol 13, Num 3, pp 189-194, issn 1364-6745, 6 p.Article

Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalusMARX, Mariola; DIESTEL, Simone; SCHAFER, Michael K. E et al.Neurogenetics (Oxford. Print). 2012, Vol 13, Num 1, pp 49-59, issn 1364-6745, 11 p.Article

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMRTERRACCIANO, A; SPECCHIO, N; DARRA, F et al.Neurogenetics (Oxford. Print). 2012, Vol 13, Num 4, pp 341-345, issn 1364-6745, 5 p.Article

TRPV4 mutations in children with congenital distal spinal muscular atrophyFIORILLO, Chiara; MORO, Francesca; BATTINI, Roberta et al.Neurogenetics (Oxford. Print). 2012, Vol 13, Num 3, pp 195-203, issn 1364-6745, 9 p.Article

Audiogenic seizure proneness requires the contribution of two susceptibility loci in miceCATHARINE JAWAHAR, M; SARI, Carolina I; WILSON, Yvette M et al.Neurogenetics (Oxford. Print). 2011, Vol 12, Num 3, pp 253-257, issn 1364-6745, 5 p.Article

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in SardiniaQUADRI, Marialuisa; COSSU, Giovanni; SADDI, Valeria et al.Neurogenetics (Oxford. Print). 2011, Vol 12, Num 3, pp 203-209, issn 1364-6745, 7 p.Article

Identification of novel SNPs of ABCD1, ABCD2, ABCD3, and ABCD4 genes in patients with X-linked adrenoleukodystrophy (ALD) based on comprehensive resequencing and association studies with ALD phenotypesMATSUKAWA, Takashi; ASHEUER, Muriel; TSUJI, Shoji et al.Neurogenetics (Oxford. Print). 2011, Vol 12, Num 1, pp 41-50, issn 1364-6745, 10 p.Article

Inheritance of Charcot―Marie―Tooth disease 1A with rare nonrecurrent genomic rearrangementCHOI, Byung-Ok; NAM KEUN KIM; SUN WHA PARK et al.Neurogenetics (Oxford. Print). 2011, Vol 12, Num 1, pp 51-58, issn 1364-6745, 8 p.Article

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variabilitySANTORO, Lucio; BREEDVELD, Guido J; OOSTRA, Ben A et al.Neurogenetics (Oxford. Print). 2011, Vol 12, Num 1, pp 33-39, issn 1364-6745, 7 p.Article

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1FERREIRA, Mariana; TORRACO, Alessandra; DIONISI-VICI, Carlo et al.Neurogenetics (Oxford. Print). 2011, Vol 12, Num 1, pp 9-17, issn 1364-6745, 9 p.Article

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosumBOUKHRIS, Amir; IMED FEKI; BRICE, Alexis et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 4, pp 441-448, issn 1364-6745, 8 p.Article

Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST geneTHOMSEN, Bo; NISSEN, Peter H; AGERHOLM, Jørgen S et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 2, pp 175-183, issn 1364-6745, 9 p.Article

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical managementANHEIM, M; FLEURY, M; FRITSCH, M et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 1, pp 1-12, issn 1364-6745, 12 p.Article

Intratumoral patterns of clonal evolution in gliomasVITAL, Ana Luisa; TABERNERO, Maria Dolores; CRESPO, Inês et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 2, pp 227-239, issn 1364-6745, 13 p.Article

Meta-analysis of association between variation in the PDE4D gene and ischemic cerebral infarction risk in Asian populationsXIAOWEI XU; XIA LI; JIEJIE LI et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 3, pp 327-333, issn 1364-6745, 7 p.Article

Molecular characterization of six Chinese families with m.3460G>A and Leber hereditary optic neuropathyDANDAN YU; XIAOYUN JIA; ZHANG, A-Mei et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 3, pp 349-356, issn 1364-6745, 8 p.Article

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafishSOUTHGATE, Laura; DAFOU, Dimitra; TALY, Arun B et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 4, pp 379-389, issn 1364-6745, 11 p.Article

Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neuronsSODERBLOM, Cynthia; STADLER, Julia; JUPILLE, Henri et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 4, pp 369-378, issn 1364-6745, 10 p.Article

Suggestive evidence on chromosomes 2 and 19 for HTR1A-independent linkage of genes to major depressionABKEVICH, Victor; NEFF, Chris D; POTTER, Jennifer et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 2, pp 271-272, issn 1364-6745, 2 p.Article

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardationZANNI, Ginevra; VAN ESCH, Hilde; CHELLY, Jamel et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 2, pp 251-255, issn 1364-6745, 5 p.Article