List of works - Marie Mangelsdorf

A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.

scientific article

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

scientific article published on 25 May 2016

Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing

scientific article

Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor

scientific article

Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene

scientific article published on 4 March 2009

C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.

scientific article

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.

scientific article published on May 1997

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.

scientific article published on 20 September 2017

Dynamic mutation loci: allele distributions in different populations

scientific article published on 01 September 1996

FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis.

scientific article published in May 1998

Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

scientific article

Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2.

scientific article

Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat

scientific article

Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brain.

scientific article

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

scientific article (publication date: August 2002)

Inhibition of motor neuron death in vitro and in vivo by a p75 neurotrophin receptor intracellular domain fragment

scientific article published on 26 October 2015

Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus

scientific article published on 01 March 1995

Molecular genetics of X-linked mental retardation: a complex picture emerging.

scientific article

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

scientific article published on 22 January 2016

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

scientific article

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

scientific article (publication date: April 2002)

RNA-binding proteins in neurological diseases.

scientific article published on April 2014

The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis

scientific article

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

scientific article (publication date: November 2002)

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort

scientific article

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.

scientific article published on 17 November 2017

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

scientific article

List of works by Marie Mangelsdorf

A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

Amyotrophic Lateral Sclerosis Genetic Studies: From Genome-wide Association Mapping to Genome Sequencing

Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor

Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene

C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis.

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.

Dynamic mutation loci: allele distributions in different populations

FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis.

Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein

Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2.

Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat

Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brain.

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

Inhibition of motor neuron death in vitro and in vivo by a p75 neurotrophin receptor intracellular domain fragment

Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus

Molecular genetics of X-linked mental retardation: a complex picture emerging.

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

RNA-binding proteins in neurological diseases.

The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort

Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene