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Samuel Ignacio Pascual Pascual

Profesor Titular

Universidad Autónoma de Madrid

Spain

Research Interests

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Professors in Spain

Articles (16)

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2026

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2026

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2023

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2023

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2023

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2023

Collaborators (7)

Miguel Angel Barba Romero

Profesor Asociado Ciencias de la Salud

University of Castilla-La Mancha

SPAIN

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Chalongchai Phitsanuwong

Associate Professor

University of Chicago

UNITED STATES

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Pablo Prieto-Matos

SPAIN

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Giovanni Baranello

Prof.

University College London

UNITED KINGDOM

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Gerardo Gutiérrez-Gutiérrez

Professor

Universidad Europea de Madrid SLU

SPAIN

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German Moris

University of Oviedo

SPAIN

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Sho Yano

UNITED STATES

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Samuel Ignacio Pascual Pascual

Research Interests

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Articles (16)

Recomendaciones para el diagnóstico, tratamiento y seguimiento de la enfermedad de Pompe de inicio tardío

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

Multidisciplinary management of X-linked myotubular myopathy in Spain and Portugal: A case series analysis,Manejo multidisciplinar de la miopatía miotubular ligada al cromosoma X en España y Portugal: un análisis de una serie de casos

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease in Spain,Guía práctica de diagnóstico y manejo en la enfermedad de Charcot-Marie-Tooth en España

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

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

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

The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

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

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

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

Expanding the phenotypic spectrum of <i>TRAPPC11-</i>related muscular dystrophy: 25 Roma individuals carrying a founder variant

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

CuidAME: Three-year Spanish longitudinal project to collect data on patients with spinal muscular atrophy

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

Spanish Pompe registry: new data based on the 130 patients included

Collaborators (7)

Miguel Angel Barba Romero

Chalongchai Phitsanuwong

Pablo Prieto-Matos

Giovanni Baranello

Gerardo Gutiérrez-Gutiérrez

German Moris

Sho Yano

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