Lista de obras - Martin Paucar - Dominio Público Uruguay

7α-hydroxy-3-oxo-4-cholestenoic acid in cerebrospinal fluid reflects the integrity of the blood-brain barrier.

artículo científico publicado en 2013

Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27

artículo científico publicado en 2020

De novo mutations in ataxin-2 gene and ALS risk

artículo científico publicado en 2013

Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation

artículo científico publicado en 2013

Heterozygous variants in DCC: Beyond congenital mirror movements

scientific article published on 20 October 2020

Hyperkinesias and echolalia in primary familial brain calcification

artículo científico publicado en 2020

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

artículo científico publicado en 2013

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

artículo científico publicado en 2015

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

artículo científico publicado en 2013

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.

artículo científico publicado en 2018

POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome

artículo científico publicado en 2016

PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation

artículo científico publicado en 2016

Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

scientific article published on 27 April 2020

SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes

artículo científico publicado en 2020

Teaching Video NeuroImages: Feeding dystonia in chorea-acanthocytosis.

artículo científico publicado en 2015

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C

artículo científico publicado en 2019

Lista de obras de Martin Paucar

7α-hydroxy-3-oxo-4-cholestenoic acid in cerebrospinal fluid reflects the integrity of the blood-brain barrier.

Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27

De novo mutations in ataxin-2 gene and ALS risk

Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation

Heterozygous variants in DCC: Beyond congenital mirror movements

Hyperkinesias and echolalia in primary familial brain calcification

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.

POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome

PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation

Phenotypic variability in chorea-acanthocytosis associated with novel VPS13A mutations

SLC1A3 variant associated with hemiplegic migraine and acetazolamide-responsive MRS changes

Teaching Video NeuroImages: Feeding dystonia in chorea-acanthocytosis.

The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C