Alexis Ruiz

Basel, BS, Switzerland

Last Updated: 09/26/2026

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Found 11 publications

RYR1 mutations linked to malignant hyperthermia susceptibility are associated with phenotypic changes in human B-lymphocytes.

RYR1 mutations linked to malignant hyperthermia susceptibility are associated with phenotypic changes in human B-lymphocytes.

Journal: Frontiers in immunology

Published: May 09, 2026

5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy.

5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy.

Journal: Human molecular genetics

Published: October 28, 2024

Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis.

Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis.

Journal: The Journal of physiology

Published: October 10, 2024

A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.

A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice.

Journal: The Journal of general physiology

Published: September 14, 2023

Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies.

Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies.

Journal: eLife

Published: September 21, 2022

Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors.

Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors.

Journal: eLife

Published: September 08, 2021

Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice.

Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice.

Journal: The Journal of biological chemistry

Published: April 11, 2020

Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations.

Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations.

Journal: Human molecular genetics

Published: January 09, 2020

Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength.

Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength.

Journal: Human molecular genetics

Published: March 04, 2019

Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.

Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.

Journal: Human molecular genetics

Published: December 12, 2018

Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance.

Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance.

Journal: Scientific reports

Published: October 20, 2017

Showing 1-11 of 11

Last Updated: 09/26/2026