List of works - Ronald Buijsen

Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset

scientific article published on 04 October 2018

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

scientific article

Fragile X mice have robust mGluR5-dependent alterations of social behaviour in the Automated Tube Test

scientific article published on 3 January 2015

Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient

scientific article published on 14 December 2018

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.

scientific article

Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease

scientific article published on 12 July 2019

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients

scientific article published on 28 August 2019

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

scientific article published on 01 April 2019

Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo

scientific article

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

scientific article

Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model.

scientific article

Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency

scientific article

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

scientific article

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

scientific article

Subregion-specific dendritic spine abnormalities in the hippocampus of Fmr1 KO mice.

scientific article published in March 2011

The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice.

scientific article

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.

scientific article published on 04 January 2017

List of works by Ronald Buijsen

Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onset

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

Fragile X mice have robust mGluR5-dependent alterations of social behaviour in the Automated Tube Test

Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient

Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B.

Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease

Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivo

Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome

Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model.

Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency

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

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

Subregion-specific dendritic spine abnormalities in the hippocampus of Fmr1 KO mice.

The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice.

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.