Lies-anne M. Severijnen

Rotterdam, ZH 3015GD, Netherlands

Last Updated: 09/26/2026

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Found 16 publications

Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation.

Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutation.

Journal: Human molecular genetics

Published: September 10, 2020

Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report.

Refining the Spectrum of Neuronal Intranuclear Inclusion Disease: A Case Report.

Journal: Journal of neuropathology and experimental neurology

Published: June 01, 2019

Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.

Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.

Journal: Acta neuropathologica communications

Published: February 08, 2019

HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis.

HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis.

Journal: Acta neuropathologica communications

Published: January 31, 2019

An Integrative Study of Protein-RNA Condensates Identifies Scaffolding RNAs and Reveals Players in Fragile X-Associated Tremor/Ataxia Syndrome.

An Integrative Study of Protein-RNA Condensates Identifies Scaffolding RNAs and Reveals Players in Fragile X-Associated Tremor/Ataxia Syndrome.

Journal: Cell reports

Published: June 19, 2018

CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.

CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.

Journal: European journal of human genetics : EJHG

Published: May 04, 2017

Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome.

Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome.

Journal: Human molecular genetics

Published: January 30, 2017

Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.

Retraction Note to: A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD.

Journal: Acta neuropathologica communications

Published: November 22, 2016

Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.

Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.

Journal: Human molecular genetics

Published: May 01, 2015

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome.

FMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndrome.

Journal: Acta neuropathologica communications

Published: October 08, 2014

PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.

PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.

Journal: Brain : a journal of neurology

Published: April 12, 2014

Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.

Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.

Journal: Human molecular genetics

Published: October 24, 2013

Showing 1-12 of 16

Last Updated: 09/26/2026