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Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTAS.Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndromeFMRpolyG-positive inclusions in CNS and non-CNS organs of a fragile X premutation carrier with fragile X-associated tremor/ataxia syndromeInduced expression of expanded CGG RNA causes mitochondrial dysfunction in vivoPresence 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.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.Selective rescue of heightened anxiety but not gait ataxia in a premutation 90CGG mouse model of Fragile X-associated tremor/ataxia syndrome.Fragile X mice have robust mGluR5-dependent alterations of social behaviour in the Automated Tube Test.Subregion-specific dendritic spine abnormalities in the hippocampus of Fmr1 KO mice.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.Paradoxical effect of baclofen on social behavior in the fragile X syndrome mouse model.Bioenergetics in fibroblasts of patients with Huntington disease are associated with age at onsetGeneration of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patientsGenetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar AtaxiasGeneration of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patientGeneration of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease
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description
investigador
@es
researcher
@en
wetenschapper
@nl
name
R A M Buijsen
@en
R A M Buijsen
@nl
type
label
R A M Buijsen
@en
R A M Buijsen
@nl
prefLabel
R A M Buijsen
@en
R A M Buijsen
@nl
P108
P31
P496
0000-0002-9722-8110