Lista de obras - Sara Baldassari - Dominio Público Uruguay

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

artículo científico publicado en 2013

Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

artículo científico publicado en 2014

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

article

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

DEPDC5 mutations in epilepsy with auditory features

artículo científico publicado en 2016

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

artículo científico publicado en 2015

Epilepsy with auditory features: Contribution of known genes in 112 patients

artículo científico publicado en 2021

GATOR1 complex: the common genetic actor in focal epilepsies

artículo científico publicado en 2016

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

artículo científico publicado en 2016

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

artículo científico publicado en 2019

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

artículo científico publicado en 2015

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

artículo científico publicado en 2015

Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations

artículo científico publicado en 2018

Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy

scientific article published on 30 April 2018

Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients

scientific article published on 23 November 2019

The landscape of epilepsy-related GATOR1 variants

artículo científico publicado en 2018

Lista de obras de Sara Baldassari

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

Correction to: The landscape of epilepsy-related GATOR1 variants

Correction: The landscape of epilepsy-related GATOR1 variants

DEPDC5 mutations in epilepsy with auditory features

Epilepsy with auditory features: A heterogeneous clinico-molecular disease.

Epilepsy with auditory features: Contribution of known genes in 112 patients

GATOR1 complex: the common genetic actor in focal epilepsies

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations

Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy

Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients

The landscape of epilepsy-related GATOR1 variants