Lista de obras - Viorica Chelban - Dominio Público Uruguay

An update on advances in magnetic resonance imaging of multiple system atrophy

artículo científico publicado en 2019

Analysis of the prion protein gene in multiple system atrophy

artículo científico publicado en 2016

Autonomic dysfunction in genetic forms of synucleinopathies.

artículo científico publicado en 2018

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

artículo científico publicado en 2018

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination

artículo científico publicado en 2019

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

artículo científico publicado en 2016

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

artículo científico publicado en 2017

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

artículo científico publicado en 2018

Lysosomal storage disorder gene variants in multiple system atrophy

artículo científico publicado en 2018

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

publication published on 01 April 2021

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

artículo científico publicado en 2018

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

artículo científico publicado en 2019

Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes

artículo científico publicado en 2019

Severe axonal neuropathy is a late manifestation of SPG11.

artículo científico publicado en 2016

Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia

artículo científico publicado en 2016

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

artículo científico publicado en 2017

Lista de obras de Viorica Chelban

An update on advances in magnetic resonance imaging of multiple system atrophy

Analysis of the prion protein gene in multiple system atrophy

Autonomic dysfunction in genetic forms of synucleinopathies.

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.

Lysosomal storage disorder gene variants in multiple system atrophy

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation

Proximity extension assay testing reveals novel diagnostic biomarkers of atypical parkinsonian syndromes

Severe axonal neuropathy is a late manifestation of SPG11.

Triple trouble: a striking new phenotype or competing genes in a family with hereditary spastic paraplegia

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia