Alba Fransi-Ramos

Badalona, CT, Spain

Last Updated: 09/26/2026

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Found 25 publications

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.

Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.

Journal: Journal of neurology
Published: February 13, 2024

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.

Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.

Journal: Neuromuscular disorders : NMD
Published: June 07, 2023

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Journal: Journal of neurology
Published: May 06, 2023

Prognostic Accuracy of N20 Somatosensory Potential in Patients With Acute Ischemic Stroke and Endovascular Thrombectomy.

Prognostic Accuracy of N20 Somatosensory Potential in Patients With Acute Ischemic Stroke and Endovascular Thrombectomy.

Journal: Stroke (Hoboken, N.J.)
Published: November 06, 2022

An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation.

An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulation.

Journal: Biomedicines
Published: April 22, 2022

Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Journal: Journal of neurology, neurosurgery, and psychiatry
Published: February 01, 2022

Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1.

Characterization of RAN Translation and Antisense Transcription in Primary Cell Cultures of Patients with Myotonic Dystrophy Type 1.

Journal: Journal of clinical medicine
Published: October 30, 2021

Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.

Drug-refractory myasthenia gravis: Clinical characteristics, treatments, and outcome.

Journal: Annals of clinical and translational neurology
Published: October 22, 2021

Clinical characteristics and outcomes of thymoma-associated myasthenia gravis.

Clinical characteristics and outcomes of thymoma-associated myasthenia gravis.

Journal: European journal of neurology
Published: February 07, 2021

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.

Journal: Genes
Published: September 18, 2020

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1.

Journal: Genes
Published: May 27, 2020

Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype.

Three-dimensional imaging in myotonic dystrophy type 1: Linking molecular alterations with disease phenotype.

Journal: Neurology. Genetics
Published: February 21, 2020
Showing 1-12 of 25

Last Updated: 09/26/2026