about
Deep sequencing whole transcriptome exploration of the σE regulon in Neisseria meningitidisClassification, diagnosis and potential mechanisms in pontocerebellar hypoplasiaAssociation between the DTNBP1 gene and intelligence: a case-control study in young patients with schizophrenia and related disorders and unaffected siblingsThe human thyroglobulin gene is over 300 kb long and contains introns of up to 64 kbCLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegenerationIdentification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceRhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptorType VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contracturesN-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-LomA frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyMRP3, an organic anion transporter able to transport anti-cancer drugsMultidrug-resistance protein 5 is a multispecific organic anion transporter able to transport nucleotide analogsGermline mutation of INI1/SMARCB1 in familial schwannomatosisEvaluation of the similarity of gene expression data estimated with SAGE and Affymetrix GeneChipsV-akt murine thymoma viral oncogene homolog 3 (AKT3) contributes to poor disease outcome in humans and mice with pneumococcal meningitis.Mutations in ABCC6 cause pseudoxanthoma elasticumPartial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndromeInactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidismA mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndromeEarly onset neuropathy in a compound form of Charcot-Marie-Tooth diseaseCACNA1B mutation is linked to unique myoclonus-dystonia syndromeAbnormal heart rate and body temperature in mice lacking thyroid hormone receptor alpha 1ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association studyBiallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset EncephalopathyThe human transcriptome map: clustering of highly expressed genes in chromosomal domainsHaplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.Human prion diseases in the Netherlands (1998-2009): clinical, genetic and molecular aspects.The kinesin light chain gene: its mapping and exclusion in mouse and human forms of inherited motor neuron degeneration.Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trialTranscriptional profile of the human peripheral nervous system by serial analysis of gene expression.Expression of complement components in the peripheral nervous system.Ribonuclease H1 maps to chromosome 2 and has at least three pseudogene loci in the human genome.Statistical evaluation of SAGE libraries: consequences for experimental design.Neural response to alcohol taste cues in youth: effects of the OPRM1 gene.Full transcriptome analysis of rhabdomyosarcoma, normal, and fetal skeletal muscle: statistical comparison of multiple SAGE libraries.Scaling of gene expression data allowing the comparison of different gene expression platforms.Serial analysis of gene expression as a tool to assess the human thyroid expression profile and to identify novel thyroidal genes.The gene for the human Src-like adaptor protein (hSLAP) is located within the 64-kb intron of the thyroglobulin gene.Comparison of Schwann cell and sciatic nerve transcriptomes indicates that mouse is a valid model for the human peripheral nervous system.
P50
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P50
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Frank Baas
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Frank Baas
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