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CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis
Cover Page
Mutant huntingtin fragment selectively suppresses Brn-2 POU domain transcription factor to mediate hypothalamic cell dysfunction
Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations
Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing
The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis
mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae
Functional muscle analysis of the Tcap knockout mouse
Editorial Board
Epigenetic maturation in colonic mucosa continues beyond infancy in mice
Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development
Contents Page
OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci
Rilmenidine attenuates toxicity of polyglutamine expansions in a mouse model of Huntington's disease
Widespread enzymatic correction of CNS tissues by a single intracerebral injection of therapeutic lentiviral vector in leukodystrophy mouse models
Subscription Page
Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres
Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients
Regulatory polymorphisms in EGR2 are associated with susceptibility to systemic lupus erythematosus
Variation in the uric acid transporter gene (SLC2A9) and memory performance
The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis
Skeletal muscle-restricted expression of human SOD1 causes motor neuron degeneration in transgenic mice
Synphilin-1 attenuates neuronal degeneration in the A53T α-synuclein transgenic mouse model
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