Lluis Armengol

R&d
Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 30 publications

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: November 03, 2025

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

Journal: Annals of clinical and translational neurology

Published: May 15, 2025

The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.

The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.

Journal: Clinical genetics

Published: August 01, 2024

Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?

Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?

Journal: Genes

Published: May 02, 2024

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

Journal: Molecular genetics & genomic medicine

Published: January 29, 2024

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype.

Journal: International journal of molecular sciences

Published: July 20, 2023

A Novel Variant in the LIPA Gene Associated with Distinct Phenotype.

A Novel Variant in the LIPA Gene Associated with Distinct Phenotype.

Journal: Balkan journal of medical genetics : BJMG

Published: March 07, 2023

Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant.

Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant.

Journal: Neuromuscular disorders : NMD

Published: February 15, 2023

Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.

Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.

Journal: Cellular and molecular life sciences : CMLS

Published: November 10, 2022

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Journal: The Journal of clinical investigation

Published: August 31, 2022

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.

GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.

Journal: Nucleic acids research

Published: July 20, 2021

Publisher Correction: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.

Publisher Correction: MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension.

Journal: Scientific reports

Published: April 10, 2021

Showing 1-12 of 30

Last Updated: 09/26/2026