Lista de obras - Jeanette Koht - Dominio Público Uruguay

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

artículo científico publicado en 2016

Antiepileptic drug withdrawal in juvenile myoclonic epilepsy

artículo científico publicado en 2018

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

artículo científico publicado en 2009

Ataxia with vitamin E deficiency in southeast Norway, case report.

artículo científico publicado en 2009

Benign hereditary chorea, not only chorea: a family case presentation

artículo científico publicado en 2016

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

artículo científico publicado en 2012

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

article

Cerebellar ataxia in the eastern and southern parts of Norway

artículo científico publicado en 2007

Cerebral cavernous malformations

artículo científico publicado en 2005

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.

artículo científico publicado en 2014

Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm

artículo científico publicado en 2013

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

artículo científico publicado en 2016

Congenital mirror movements of the hands

artículo científico publicado en 2015

Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

artículo científico publicado en 2017

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

artículo científico publicado en 2015

Dopa-responsive dystonia

scientific article published on 26 November 2018

Dystonia induced by drug treatment.

artículo científico publicado en 2016

Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5

artículo científico publicado en 2020

Epilepsy and rehabilitation

artículo científico publicado en 2007

Epilepsy at different ages-Etiologies in a Norwegian population

scientific article published on 21 December 2018

Fever-related ataxia: a case report of CAPOS syndrome

artículo científico publicado en 2019

Homocarnosinosis: A historical update and findings in the SPG11 gene

artículo científico publicado en 2018

Long-term follow-up with therapeutic drug monitoring of antiepileptic drugs in patients with juvenile myoclonic epilepsy

scientific article published on 30 May 2019

Missense mutations in DYT-TOR1A dystonia

artículo científico publicado en 2019

Oculogyric Crises.

artículo científico publicado en 2017

Predictors of high school dropout, anxiety, and depression in genetic generalized epilepsy

artículo científico publicado en 2020

Prevalence and etiology of epilepsy in a Norwegian county-A population based study

artículo científico

Prevalence and incidence of epilepsy in the Nordic countries

artículo científico publicado en 2015

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

artículo científico publicado en 2009

Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway.

artículo científico publicado en 2016

Psychosocial complications in juvenile myoclonic epilepsy

scientific article published on 22 January 2019

SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene

artículo científico publicado en 2011

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity

artículo científico publicado en 2014

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions

artículo científico publicado en 2014

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

artículo científico publicado en 2017

Trait impulsivity correlates with active myoclonic seizures in genetic generalized epilepsy

artículo científico publicado en 2020

Trait impulsivity in Juvenile Myoclonic Epilepsy

scientific article published on 02 December 2020

Treatment and challenges with antiepileptic drugs in patients with juvenile myoclonic epilepsy

scientific article published on 19 July 2019

[A 74-year-old unconscious woman with myoclonia and seizures]

scientific article published on 01 September 2006

Lista de obras de Jeanette Koht

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

Antiepileptic drug withdrawal in juvenile myoclonic epilepsy

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

Ataxia with vitamin E deficiency in southeast Norway, case report.

Benign hereditary chorea, not only chorea: a family case presentation

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

Cerebellar ataxia in the eastern and southern parts of Norway

Cerebral cavernous malformations

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.

Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

Congenital mirror movements of the hands

Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

Dopa-responsive dystonia

Dystonia induced by drug treatment.

Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5

Epilepsy and rehabilitation

Epilepsy at different ages-Etiologies in a Norwegian population

Fever-related ataxia: a case report of CAPOS syndrome

Homocarnosinosis: A historical update and findings in the SPG11 gene

Long-term follow-up with therapeutic drug monitoring of antiepileptic drugs in patients with juvenile myoclonic epilepsy

Missense mutations in DYT-TOR1A dystonia

Oculogyric Crises.

Predictors of high school dropout, anxiety, and depression in genetic generalized epilepsy

Prevalence and etiology of epilepsy in a Norwegian county-A population based study

Prevalence and incidence of epilepsy in the Nordic countries

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway.

Psychosocial complications in juvenile myoclonic epilepsy

SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

Trait impulsivity correlates with active myoclonic seizures in genetic generalized epilepsy

Trait impulsivity in Juvenile Myoclonic Epilepsy

Treatment and challenges with antiepileptic drugs in patients with juvenile myoclonic epilepsy

[A 74-year-old unconscious woman with myoclonia and seizures]