Angel Montanez-Sanchez

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 21 publications

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM.

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM.

Journal: Annals of clinical and translational neurology

Published: September 10, 2025

Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies.

Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies.

Journal: Annals of clinical and translational neurology

Published: August 22, 2025

A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.

A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.

Journal: Annals of clinical and translational neurology

Published: February 07, 2023

Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.

Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.

Journal: American journal of medical genetics. Part A

Published: August 20, 2021

Genetic diagnosis of basal ganglia disease in childhood.

Genetic diagnosis of basal ganglia disease in childhood.

Journal: Developmental medicine and child neurology

Published: March 23, 2021

Leigh syndrome associated with TRMU gene mutations.

Leigh syndrome associated with TRMU gene mutations.

Journal: Molecular genetics and metabolism reports

Published: September 15, 2020

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Journal: Journal of inherited metabolic disease

Published: April 03, 2020

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.

Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.

Journal: Annals of clinical and translational neurology

Published: March 06, 2020

Primary endovascular treatment for acute ischemic stroke in teenage patients: a short case series.

Primary endovascular treatment for acute ischemic stroke in teenage patients: a short case series.

Journal: Neuroradiology

Published: January 31, 2020

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.

Journal: Molecular genetics and metabolism

Published: November 02, 2018

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.

Journal: Muscle & nerve

Published: July 22, 2018

Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests.

Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests.

Journal: Muscle & nerve

Published: June 25, 2018

Showing 1-12 of 21

Last Updated: 09/26/2026