Montserrat Ruiz

Gran Via 199
Barcelona, CT 08908, Spain

Last Updated: 09/26/2026

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Found 45 publications

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 05, 2026

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 31, 2024

Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.

Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.

Journal: Aging cell

Published: May 10, 2024

Prevalence, Clinical Characteristics and Risk Factors of Post-COVID-19 Condition in a Multicenter Pediatric Primary and Hospital Care Cohort.

Prevalence, Clinical Characteristics and Risk Factors of Post-COVID-19 Condition in a Multicenter Pediatric Primary and Hospital Care Cohort.

Journal: The Pediatric infectious disease journal

Published: February 21, 2024

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.

Journal: Nature communications

Published: February 08, 2024

Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.

Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.

Journal: Brain : a journal of neurology

Published: October 02, 2023

Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.

Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia.

Journal: European journal of neurology

Published: June 04, 2023

Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number.

Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number.

Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences

Published: March 22, 2023

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Journal: Genome medicine

Published: February 08, 2023

Multisystem inflammatory syndrome in children and SARS-CoV-2 variants: a two-year ambispective multicentric cohort study in Catalonia, Spain.

Multisystem inflammatory syndrome in children and SARS-CoV-2 variants: a two-year ambispective multicentric cohort study in Catalonia, Spain.

Journal: European journal of pediatrics

Published: September 19, 2022

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.

Journal: The Journal of clinical investigation

Published: June 23, 2022

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.

RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.

Journal: The Journal of clinical investigation

Published: June 17, 2022

Showing 1-12 of 45

Last Updated: 09/26/2026