Lista de obras -

4p16.3 haplotype modifying age at onset of Huntington disease.

artículo científico publicado en 2009

A microtechnique for quantitative measurements of acid hydrolases in fibroblasts. Its application in diagnosis of Fabry disease and enzyme replacement studies

scientific article published on 01 September 1984

A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment.

artículo científico publicado en 2008

ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia

artículo científico publicado en 2012

Antisense downregulation of mutant huntingtin in a cell model.

artículo científico publicado en 2003

Attitudes of persons at risk for Fabry's disease towards predictive tests and genetic counselling

artículo científico publicado en 1983

Autonomic skin responses in females with Fabry disease

artículo científico publicado en 2009

Cag Repeat Expansion in Autosomal Dominant Pure Spastic Paraplegia Linked to Chromosome 2p21-p24 ⬇️

artículo científico publicado el 1 de octubre de 1997

Cells exposed to a huntingtin fragment containing an expanded polyglutamine tract show no sign of ion channel formation: results arguing against the ion channel hypothesis

artículo científico publicado en 2003

ConA-mediated binding and uptake of purified α-galactosidase A in Fabry fibroblasts ⬇️

artículo científico publicado el 15 de octubre de 1983

Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease.

artículo científico publicado en 1995

Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion

artículo científico publicado en 2011

Dysfunctional mitochondrial respiration in the striatum of the Huntington's disease transgenic R6/2 mouse model

artículo científico publicado en 2013

Electron microscopic observations on cultured fibroblasts from Fabry heterozygotes and hemizygotes

artículo científico publicado en 1982

Electrophysiological findings in a Danish family with Machado-Joseph disease

artículo científico publicado en 1996

Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.

artículo científico publicado en 1995

Enzyme replacement in Fabry endothelial cells and fibroblasts: uptake experiments and electron microscopical studies

scientific article published on 01 May 1988

Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

artículo científico publicado en 2010

Fabry disease: a new challenge in endocrinology and metabolism?

artículo científico publicado en 2002

Fabry's disease

artículo científico publicado en 1989

Functional and structural nerve fiber findings in heterozygote patients with Fabry disease

artículo científico publicado en 2009

GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells.

artículo científico publicado en 2008

Genetic variants and brain binding potentials: Lost in translation?

artículo científico publicado en 2010

Ghrelin-mediated improvements in the metabolic phenotype in the R6/2 mouse model of Huntington's disease

scientific article published on 08 April 2019

Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation

artículo científico publicado en 2004

Huntington's disease does not appear to increase the risk of diabetes mellitus

artículo científico publicado en 2009

Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation

artículo científico publicado en 2010

Inhibition of Huntington synthesis by antisense oligodeoxynucleotides

artículo científico publicado en 2000

Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting

artículo científico publicado en 2016

Lysosomal alpha-galactosidase in endothelial cell cultures established from a Fabry hemizygous and normal umbilical veins

scientific article published on 01 January 1986

Machado–Joseph disease in three Scandinavian families

artículo científico publicado en 1998

Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case

artículo científico publicado en 2005

Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1

artículo científico publicado en 1998

Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins

article

Neuron-specific RNA interference using lentiviral vectors

artículo científico publicado en 2009

Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure

artículo científico publicado en 1996

Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density

artículo científico publicado en 2007

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

scientific article published on 19 September 2020

Perturbations in the p53/miR-34a/SIRT1 pathway in the R6/2 Huntington's disease model.

artículo científico publicado en 2017

Platelet serotonin transporters and the transporter gene in control subjects, unipolar patients and bipolar patients

artículo científico publicado en 2001

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection.

artículo científico publicado en 2004

Progressive Impairment of Lactate-based Gluconeogenesis in the Huntington's Disease Mouse Model R6/2

artículo científico publicado en 2015

Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes

artículo científico publicado en 2015

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

artículo científico publicado en 2014

Reduced gluconeogenesis and lactate clearance in Huntington's disease.

artículo científico publicado en 2010

Reversal of pathology in CHMP2B‐mediated frontotemporal dementia patient cells using RNA interference ⬇️

artículo científico publicado el 1 de agosto de 2012

Seasonal difference in brain serotonin transporter binding predicts symptom severity in patients with seasonal affective disorder

artículo científico publicado en 2016

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.

artículo científico publicado en 2009

Small-fibre neuropathy in female Fabry patients: reduced allodynia and skin blood flow after topical capsaicin

artículo científico publicado en 2006

The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.

artículo científico publicado en 2017

The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders.

artículo científico publicado en 2011

The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's disease

scientific article published on 01 April 1996

Three-week bright-light intervention has dose-related effects on threat-related corticolimbic reactivity and functional coupling

artículo científico publicado en 2014

Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families

artículo científico publicado en 1993

alpha-Galactosidase isozymes in normal individuals, and in Fabry hemizygotes and heterozygotes

artículo científico publicado en 1980

p53 increases caspase-6 expression and activation in muscle tissue expressing mutant huntingtin

artículo científico publicado en 2013

Lista de obras de

4p16.3 haplotype modifying age at onset of Huntington disease.

A microtechnique for quantitative measurements of acid hydrolases in fibroblasts. Its application in diagnosis of Fabry disease and enzyme replacement studies

A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment.

ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia

Antisense downregulation of mutant huntingtin in a cell model.

Attitudes of persons at risk for Fabry's disease towards predictive tests and genetic counselling

Autonomic skin responses in females with Fabry disease

Cag Repeat Expansion in Autosomal Dominant Pure Spastic Paraplegia Linked to Chromosome 2p21-p24 ⬇️

Cells exposed to a huntingtin fragment containing an expanded polyglutamine tract show no sign of ion channel formation: results arguing against the ion channel hypothesis

ConA-mediated binding and uptake of purified α-galactosidase A in Fabry fibroblasts ⬇️

Correlation between magnitude of CAG repeat length alterations and length of the paternal repeat in paternally inherited Huntington's disease.

Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion

Dysfunctional mitochondrial respiration in the striatum of the Huntington's disease transgenic R6/2 mouse model

Electron microscopic observations on cultured fibroblasts from Fabry heterozygotes and hemizygotes

Electrophysiological findings in a Danish family with Machado-Joseph disease

Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophy.

Enzyme replacement in Fabry endothelial cells and fibroblasts: uptake experiments and electron microscopical studies

Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

Fabry disease: a new challenge in endocrinology and metabolism?

Fabry's disease

Functional and structural nerve fiber findings in heterozygote patients with Fabry disease

GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cells.

Genetic variants and brain binding potentials: Lost in translation?

Ghrelin-mediated improvements in the metabolic phenotype in the R6/2 mouse model of Huntington's disease

Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation

Huntington's disease does not appear to increase the risk of diabetes mellitus

Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation

Inhibition of Huntington synthesis by antisense oligodeoxynucleotides

Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting

Lysosomal alpha-galactosidase in endothelial cell cultures established from a Fabry hemizygous and normal umbilical veins

Machado–Joseph disease in three Scandinavian families

Meiotic CAG repeat instability in spinocerebellar ataxia type 6: maternally transmitted elongation in a presumed sporadic case

Mitotic and meiotic instability of the CAG trinucleotide repeat in spinocerebellar ataxia type 1

Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twins

Neuron-specific RNA interference using lentiviral vectors

Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure

Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral density

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

Perturbations in the p53/miR-34a/SIRT1 pathway in the R6/2 Huntington's disease model.

Platelet serotonin transporters and the transporter gene in control subjects, unipolar patients and bipolar patients

Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection.

Progressive Impairment of Lactate-based Gluconeogenesis in the Huntington's Disease Mouse Model R6/2

Psychiatric and cognitive symptoms in Huntington's disease are modified by polymorphisms in catecholamine regulating enzyme genes

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

Reduced gluconeogenesis and lactate clearance in Huntington's disease.

Reversal of pathology in CHMP2B‐mediated frontotemporal dementia patient cells using RNA interference ⬇️

Seasonal difference in brain serotonin transporter binding predicts symptom severity in patients with seasonal affective disorder

Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.

Small-fibre neuropathy in female Fabry patients: reduced allodynia and skin blood flow after topical capsaicin

The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease.

The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders.

The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's disease

Three-week bright-light intervention has dose-related effects on threat-related corticolimbic reactivity and functional coupling

Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families

alpha-Galactosidase isozymes in normal individuals, and in Fabry hemizygotes and heterozygotes

p53 increases caspase-6 expression and activation in muscle tissue expressing mutant huntingtin