Lista de obras -

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Lista de obras de

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.