Ana R. Lopez-Arteche

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 30 publications

Parkinsonism in KMT5B-Related Disorders: Expanding the Spectrum.

Parkinsonism in KMT5B-Related Disorders: Expanding the Spectrum.

Journal: Movement disorders clinical practice

Published: January 23, 2026

Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.

Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 05, 2025

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 05, 2025

Comment on: Soft cerebellar signs unveil RARS2-related epilepsy.

Comment on: Soft cerebellar signs unveil RARS2-related epilepsy.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: June 13, 2024

Adult Pompe disease: Analysis of 13 patients

Adult Pompe disease: Analysis of 13 patients

Journal: Medicina clinica

Published: March 25, 2024

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review.

Journal: Pediatric neurology

Published: December 20, 2023

Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.

Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.

Journal: Journal of human genetics

Published: November 13, 2023

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.

Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.

Journal: Genes

Published: June 25, 2023

Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.

Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.

Journal: Neuromuscular disorders : NMD

Published: May 25, 2023

Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients

Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients

Journal: Revista de neurologia

Published: May 11, 2023

Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.

Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.

Journal: Journal of clinical medicine

Published: March 11, 2023

Pseudo-catatonia and Acral Degos-like Lesions: An Atypical Form of the Aicardi-Goutières Syndrome.

Pseudo-catatonia and Acral Degos-like Lesions: An Atypical Form of the Aicardi-Goutières Syndrome.

Journal: Actas dermo-sifiliograficas

Published: March 01, 2023

Showing 1-12 of 30

Last Updated: 09/26/2026