Elena Aller

Valencia, VC 46026, Spain

Last Updated: 09/26/2026

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Found 45 publications

Long-term clinical and radiological trajectories in ANO5-related myopathies highlight muscle MRI as a predictor of disease progression.

Long-term clinical and radiological trajectories in ANO5-related myopathies highlight muscle MRI as a predictor of disease progression.

Journal: Journal of neurology

Published: February 08, 2026

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.

Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain.

Journal: European journal of neurology

Published: September 23, 2025

Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification.

Multimodal characterisation of the SMN locus in SMA: copy number quantification and hybrid gene identification.

Journal: NPJ genomic medicine

Published: September 17, 2025

Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.

Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.

Journal: The Journal of molecular diagnostics : JMD

Published: September 02, 2025

Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.

Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.

Journal: Molecular diagnosis & therapy

Published: July 06, 2025

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.

Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.

Journal: Human genomics

Published: February 10, 2025

Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.

Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.

Journal: International journal of neonatal screening

Published: November 28, 2024

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.

Journal: Molecular therapy. Nucleic acids

Published: July 11, 2024

Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.

Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.

Journal: Journal of neurology

Published: July 10, 2024

STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.

STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 06, 2024

Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.

Intermediate Repeat Expansion in the ATXN2 Gene as a Risk Factor in the ALS and FTD Spanish Population.

Journal: Biomedicines

Published: December 20, 2023

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.

Journal: Movement disorders clinical practice

Published: December 28, 2022

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Last Updated: 09/26/2026