Lista de obras - Bernard Sablonniere - Dominio Público Uruguay

A diagnostic scale for Alzheimer's disease based on cerebrospinal fluid biomarker profiles

artículo científico publicado en 2014

A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease.

artículo científico publicado en 2009

A new decision tree combining Abeta 1-42 and p-Tau levels in Alzheimer's diagnosis.

artículo científico publicado en 2013

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1

artículo científico publicado en 2002

Absence of unidentified CAG repeat expansion in patients with Huntington's disease-like phenotype

artículo científico publicado en 2000

Altered splicing of Tau in DM1 is different from the foetal splicing process.

artículo científico publicado en 2009

Alternative promoter usage generates novel shorter MAPT mRNA transcripts in Alzheimer's disease and progressive supranuclear palsy brains

artículo científico publicado en 2017

Association of corticobasal degeneration and Huntington's disease: can Tau aggregates protect Huntingtin toxicity?

artículo científico publicado en 2009

Association of the glucocorticoid receptor binding subunit with the 90K nonsteroid-binding component is stabilized by both steroidal and nonsteroidal antiglucocorticoids in intact cells

scientific article published on 01 December 1988

Cerebrospinal fluid amyloid-β 42/40 ratio in clinical setting of memory centers: a multicentric study

artículo científico publicado en 2015

Ceruloplasmin activity and iron chelation treatment of patients with Parkinson's disease

artículo científico publicado en 2015

Clinical and genetic evaluation in a French population presenting with primary focal dystonia

artículo científico publicado en 2005

Clinical features and genetic analysis of a new form of spinocerebellar ataxia

Critical Role of Tyrosine 277 in the Ligand-Binding and Transactivating Properties of Retinoic Acid Receptor α†

artículo científico publicado en 2000

Diffuse form of argyrophilic grain disease: a new variant of four-repeat tauopathy different from limbic argyrophilic grain disease ⬇️

artículo científico publicado el 27 de septiembre de 2003

Dopa-decarboxylase gene polymorphisms affect the motor response to L-dopa in Parkinson's disease

artículo científico publicado en 2013

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

artículo científico publicado en 2011

ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I.

artículo científico publicado en 2006

Hydrodynamic characterization and DNA-binding properties of the liganded and unliganded forms of the retinoic-acid receptor alpha from human HL-60 cells

artículo científico publicado en 1993

Impact of harmonization of collection tubes on Alzheimer's disease diagnosis.

artículo científico publicado en 2013

Improved Stokes radius measurement of the glucocorticoid receptor using TSK G4000SW and TSK G3000SW high-performance size-exclusion columns. Analytical and preparative applications

artículo científico publicado en 1987

Inactivation of unbound rat liver glucocorticoid receptor by N-alkylmaleimides at sub-zero temperatures

artículo científico publicado en 1984

Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.

artículo científico publicado en 2011

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

article

Methylphenidate for gait hypokinesia and freezing in patients with Parkinson's disease undergoing subthalamic stimulation: a multicentre, parallel, randomised, placebo-controlled trial

artículo científico publicado en 2012

Microtubule-associated protein tau gene: a risk factor in human neurodegenerative diseases.

artículo científico publicado en 2004

Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing.

artículo científico publicado en 2011

Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease.

artículo científico publicado en 2002

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats.

artículo científico publicado en 2007

Physical characterization of the activated and non-activated forms of the glucocorticoid-receptor complex bound to the steroid antagonist [3H]RU 486

artículo científico publicado en 1986

Physicochemical parameters affecting the charcoal adsorption assay for quantitative retinoid-binding measurement

artículo científico publicado en 1994

Purification and functional characterization of the ligand-binding domain from the retinoic acid receptor alpha: evidence that sulfhydryl groups are involved in ligand-receptor interactions

scientific article published on 01 November 1993

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.

artículo científico publicado en 2015

Real time RT-PCR shows correlation between retinoid-induced apoptosis and NGF-R mRNA levels.

artículo científico publicado en 2001

Reply: Cognition in SCA21 reflects developmental and adult onset cerebellar cognitive affective syndrome.

artículo científico publicado en 2015

Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)

artículo científico publicado en 2008

Symptomatic hyperlactataemia: an emerging complication of antiretroviral therapy.

artículo científico publicado en 2000

Synthesis of a biospecific adsorbent for the purification of the three human retinoic acid receptors by affinity chromatography

artículo científico publicado en 1992

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

artículo científico publicado en 2014

Tau as a biomarker of neurodegenerative diseases.

artículo científico publicado en 2008

The MAPT gene is differentially methylated in the progressive supranuclear palsy brain

artículo científico publicado en 2016

The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals

scientific article published on 30 January 2020

The first European family with tibial muscular dystrophy outside the Finnish population

artículo científico publicado en 1998

The p.Asp216His TOR1A allele effect is not found in the French population

artículo científico publicado en 2009

[Molecular actors in Alzheimer's disease: which diagnostic and therapeutic consequences?].

artículo científico publicado en 2010

Lista de obras de Bernard Sablonniere

A diagnostic scale for Alzheimer's disease based on cerebrospinal fluid biomarker profiles

A genetic variation in the ADORA2A gene modifies age at onset in Huntington's disease.

A new decision tree combining Abeta 1-42 and p-Tau levels in Alzheimer's diagnosis.

A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1

Absence of unidentified CAG repeat expansion in patients with Huntington's disease-like phenotype

Altered splicing of Tau in DM1 is different from the foetal splicing process.

Alternative promoter usage generates novel shorter MAPT mRNA transcripts in Alzheimer's disease and progressive supranuclear palsy brains

Association of corticobasal degeneration and Huntington's disease: can Tau aggregates protect Huntingtin toxicity?

Association of the glucocorticoid receptor binding subunit with the 90K nonsteroid-binding component is stabilized by both steroidal and nonsteroidal antiglucocorticoids in intact cells

Cerebrospinal fluid amyloid-β 42/40 ratio in clinical setting of memory centers: a multicentric study

Ceruloplasmin activity and iron chelation treatment of patients with Parkinson's disease

Clinical and genetic evaluation in a French population presenting with primary focal dystonia

Clinical features and genetic analysis of a new form of spinocerebellar ataxia

Critical Role of Tyrosine 277 in the Ligand-Binding and Transactivating Properties of Retinoic Acid Receptor α†

Diffuse form of argyrophilic grain disease: a new variant of four-repeat tauopathy different from limbic argyrophilic grain disease ⬇️

Dopa-decarboxylase gene polymorphisms affect the motor response to L-dopa in Parkinson's disease

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I.

Hydrodynamic characterization and DNA-binding properties of the liganded and unliganded forms of the retinoic-acid receptor alpha from human HL-60 cells

Impact of harmonization of collection tubes on Alzheimer's disease diagnosis.

Improved Stokes radius measurement of the glucocorticoid receptor using TSK G4000SW and TSK G3000SW high-performance size-exclusion columns. Analytical and preparative applications

Inactivation of unbound rat liver glucocorticoid receptor by N-alkylmaleimides at sub-zero temperatures

Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

Methylphenidate for gait hypokinesia and freezing in patients with Parkinson's disease undergoing subthalamic stimulation: a multicentre, parallel, randomised, placebo-controlled trial

Microtubule-associated protein tau gene: a risk factor in human neurodegenerative diseases.

Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing.

Mutation analysis and association studies of the ubiquitin carboxy-terminal hydrolase L1 gene in Huntington's disease.

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats.

Physical characterization of the activated and non-activated forms of the glucocorticoid-receptor complex bound to the steroid antagonist [3H]RU 486

Physicochemical parameters affecting the charcoal adsorption assay for quantitative retinoid-binding measurement

Purification and functional characterization of the ligand-binding domain from the retinoic acid receptor alpha: evidence that sulfhydryl groups are involved in ligand-receptor interactions

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.

Real time RT-PCR shows correlation between retinoid-induced apoptosis and NGF-R mRNA levels.

Reply: Cognition in SCA21 reflects developmental and adult onset cerebellar cognitive affective syndrome.

Slowly progressive spinocerebellar ataxia with extrapyramidal signs and mild cognitive impairment (SCA21)

Symptomatic hyperlactataemia: an emerging complication of antiretroviral therapy.

Synthesis of a biospecific adsorbent for the purification of the three human retinoic acid receptors by affinity chromatography

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment

Tau as a biomarker of neurodegenerative diseases.

The MAPT gene is differentially methylated in the progressive supranuclear palsy brain

The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals

The first European family with tibial muscular dystrophy outside the Finnish population

The p.Asp216His TOR1A allele effect is not found in the French population

[Molecular actors in Alzheimer's disease: which diagnostic and therapeutic consequences?].