Lista de obras - Seo-Kyung Chung - Dominio Público Uruguay

A critical role for glycine transporters in hyperexcitability disorders

artículo científico publicado en 2008

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

artículo científico publicado en 2014

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

artículo científico publicado en 2012

Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

artículo científico publicado en 2009

Coinheritance of long QT syndrome and Kearns-Sayre syndrome

artículo científico publicado en 2007

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

artículo científico publicado en 2018

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

scientific article published on April 2014

Ethnicity can predict GLRA1 genotypes in hyperekplexia.

artículo científico publicado en 2014

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus

scientific article published on 01 July 2018

GLRB is the third major gene of effect in hyperekplexia.

artículo científico publicado en 2012

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

artículo científico publicado en 2015

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

artículo científico publicado en 2013

Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients

artículo científico publicado en 2016

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

artículo científico publicado en 2008

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

artículo científico publicado en 2012

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

artículo científico publicado en 2006

Near-miss SIDS due to Brugada syndrome

artículo científico publicado en 2005

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.

artículo científico publicado en 2014

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

artículo científico publicado en 2013

Next generation sequencing methodologies--an overview

artículo científico publicado en 2012

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

artículo científico publicado en 2012

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

artículo científico publicado en 2013

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

artículo científico publicado en 2016

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

artículo científico publicado en 2010

Posthumous diagnosis of long QT syndrome from neonatal screening cards

article

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

artículo científico publicado en 2015

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene

artículo científico publicado en 2011

Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias

artículo científico publicado en 2011

The glycinergic system in human startle disease: a genetic screening approach

artículo científico publicado en 2010

Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.

artículo científico

Lista de obras de Seo-Kyung Chung

A critical role for glycine transporters in hyperexcitability disorders

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2

Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

Coinheritance of long QT syndrome and Kearns-Sayre syndrome

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

Ethnicity can predict GLRA1 genotypes in hyperekplexia.

Expanding the phenotype of TRAK1 mutations: hyperekplexia and refractory status epilepticus

GLRB is the third major gene of effect in hyperekplexia.

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients

Identification of large gene deletions and duplications in KCNQ1 and KCNH2 in patients with long QT syndrome

Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

Near-miss SIDS due to Brugada syndrome

Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

Next generation sequencing methodologies--an overview

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy

Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia

Posthumous diagnosis of long QT syndrome from neonatal screening cards

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene

Symptoms and signs associated with syncope in young people with primary cardiac arrhythmias

The glycinergic system in human startle disease: a genetic screening approach

Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.