Concepedia

Antonio Federico Martínez‐Monseny

AF

14

Publications

365

Citations

12

H-Index

2017

Active since

Affiliations

Hospital Sant Joan de Déu Barcelona(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Vall d'Hebron Institut de Recerca

Hospital Universitario La Paz

Antonio Federico Martínez‐Monseny is an author at Hospital Sant Joan de Déu Barcelona specializing in genetics, medicine, and neuropathology.

ORCID

Top concepts

Publications per year

2017–2024

14

Publications

14

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

Antonio Federico Martínez‐Monseny, Mercè Bolasell, Laura Callejón‐Póo et al. · Annals of Neurology · 2019 · 65 citations

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

Mercè Izquierdo-Serra, Antonio Federico Martínez‐Monseny, Laura López et al. · International Journal of Molecular Sciences · 2018 · 56 citations · Full text

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

Roser Urreizti, Estrella López‐Martín, Antonio Federico Martínez‐Monseny et al. · Orphanet Journal of Rare Diseases · 2020 · 31 citations · Full text

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Gemma Bullich, Leslie Matalonga, Montserrat Pujadas et al. · Journal of Molecular Diagnostics · 2022 · 27 citations · Full text

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

Antonio Federico Martínez‐Monseny, Daniel Cuadras, Mercè Bolasell et al. · Journal of Medical Genetics · 2018 · 26 citations

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