Samuel I. Pascual

La Paz, MD, Spain

Last Updated: 09/26/2026

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Found 63 publications

Epilepsy, neuroinflammation and cannabidiol What do we know thus far?

Epilepsy, neuroinflammation and cannabidiol What do we know thus far?

Journal: Frontiers in pharmacology

Published: November 18, 2025

Efficacy and tolerability of a low-glycemic-index ketogenic diet in Angelman syndrome: findings from the DIANE study.

Efficacy and tolerability of a low-glycemic-index ketogenic diet in Angelman syndrome: findings from the DIANE study.

Journal: Orphanet journal of rare diseases

Published: March 14, 2025

Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.

Recommendations for the diagnosis, treatment, and follow-up of late-onset Pompe disease.

Journal: Neurologia

Published: October 09, 2024

Difficulty of administration of nusinersen in complex-column spinal muscular atrophy: New alternative technique by means of cervical intrathecal access through an Ommaya reservoir.

Difficulty of administration of nusinersen in complex-column spinal muscular atrophy: New alternative technique by means of cervical intrathecal access through an Ommaya reservoir.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: August 05, 2024

Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers.

Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers.

Journal: Orphanet journal of rare diseases

Published: May 27, 2024

Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial.

Journal: The Lancet. Neurology

Published: January 26, 2024

Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study.

Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study.

Journal: Journal of patient-reported outcomes

Published: December 19, 2023

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

Journal: Neurologia

Published: September 12, 2023

DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results.

DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results.

Journal: Journal of neuromuscular diseases

Published: July 02, 2023

Multidisciplinary management of X-linked myotubular myopathy in Spain and Portugal: A case series analysis.

Multidisciplinary management of X-linked myotubular myopathy in Spain and Portugal: A case series analysis.

Journal: Neurologia

Published: June 07, 2023

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

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.

Journal: Journal of medical genetics

Published: December 30, 2022

Showing 1-12 of 63

Last Updated: 09/26/2026