about
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneMutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyVariable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutationInfantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARXHuman chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeatWhole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohortMutations in the DLG3 gene cause nonsyndromic X-linked mental retardationFolate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein.Molecular genetics of X-linked mental retardation: a complex picture emerging.Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.RNA-binding proteins in neurological diseases.Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing.A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3.Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis.C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor.Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brain.Inhibition of motor neuron death in vitro and in vivo by a p75 neurotrophin receptor intracellular domain fragment.Dynamic mutation loci: allele distributions in different populationsMolecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus
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description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Marie Mangelsdorf
@en
Marie Mangelsdorf
@es
Marie Mangelsdorf
@nl
Marie Mangelsdorf
@sl
type
label
Marie Mangelsdorf
@en
Marie Mangelsdorf
@es
Marie Mangelsdorf
@nl
Marie Mangelsdorf
@sl
prefLabel
Marie Mangelsdorf
@en
Marie Mangelsdorf
@es
Marie Mangelsdorf
@nl
Marie Mangelsdorf
@sl
P106
P31
P496
0000-0002-7855-7701