List of works - Martin Paucar

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

scientific article published on 08 December 2013

Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27

scientific article published on 29 February 2020

De novo mutations in ataxin-2 gene and ALS risk

scientific article published on 06 August 2013

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

scientific article

Heterozygous variants in DCC: Beyond congenital mirror movements

scientific article published on 20 October 2020

Hyperkinesias and echolalia in primary familial brain calcification

scientific article published on 10 November 2020

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 12 March 2018

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

scientific article published on 12 April 2016

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

scientific article

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

scientific article published on 07 July 2020

Teaching Video NeuroImages: Feeding dystonia in chorea-acanthocytosis.

scientific article

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

scientific article published on 15 July 2019

List of works by 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