Jessica M. Escudero-Exposito

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 18 publications

Case report of Glycogen Storage Disease Type XI with skin manifestations and novel LDHA mutation.

Case report of Glycogen Storage Disease Type XI with skin manifestations and novel LDHA mutation.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: October 29, 2025

Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies.

Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies.

Journal: Journal of neurology

Published: March 06, 2025

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy.

Journal: Journal of neuromuscular diseases

Published: March 15, 2024

Epilepsy in Duchenne and Becker muscular dystrophies.

Epilepsy in Duchenne and Becker muscular dystrophies.

Journal: Annals of clinical and translational neurology

Published: February 09, 2024

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

Journal: Frontiers in genetics

Published: December 31, 2022

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy.

Journal: Acta neuropathologica

Published: November 17, 2022

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.

Journal: Annals of clinical and translational neurology

Published: November 17, 2022

Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.

Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.

Journal: Frontiers in neuroscience

Published: September 28, 2021

Corrigendum to "Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen"[ Eur. J. Paediatr. Neurol. (2021) 92-101].

Corrigendum to "Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen"[ Eur. J. Paediatr. Neurol. (2021) 92-101].

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

Published: August 25, 2021

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.

Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.

Journal: Pediatric neurology

Published: November 09, 2020

Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen.

Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen.

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

Published: September 15, 2020

Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.

Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies.

Journal: Neurology

Published: August 24, 2020

Showing 1-12 of 18

Last Updated: 09/26/2026