Maria A. Arroyo-Ramos

Pamplona, NC, Spain

Last Updated: 09/26/2026

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Found 17 publications

Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family.

Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family.

Journal: Neurology. Genetics

Published: November 13, 2024

Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.

Prognostic significance of mutation type and chromosome fragility in Fanconi anemia.

Journal: American journal of hematology

Published: July 24, 2024

Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.

Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.

Journal: European journal of human genetics : EJHG

Published: August 16, 2023

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.

Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease.

Journal: Human molecular genetics

Published: June 17, 2022

Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain.

Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain.

Journal: Orphanet journal of rare diseases

Published: August 13, 2020

Author response: Clinical manifestations of homozygote allele carriers in Huntington disease.

Author response: Clinical manifestations of homozygote allele carriers in Huntington disease.

Journal: Neurology

Published: April 22, 2020

Correction to: Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).

Correction to: Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).

Journal: BMC cancer

Published: December 19, 2019

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.

A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.

Journal: Genes

Published: September 13, 2019

Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).

Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).

Journal: BMC cancer

Published: July 26, 2019

New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

Journal: Molecular genetics & genomic medicine

Published: June 13, 2019

Clinical manifestations of homozygote allele carriers in Huntington disease.

Clinical manifestations of homozygote allele carriers in Huntington disease.

Journal: Neurology

Published: July 03, 2018

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Journal: Molecular neurobiology

Published: June 20, 2016

Showing 1-12 of 17

Last Updated: 09/26/2026