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A. Ruiz · SciRah

Researcher profile · Semantic Scholar

A. Ruiz

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A. Ruiz — researcher profile on SciRah

h-index: 6
Works: 17
Citations: 123

Most-cited papers

Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength.
M. Elbaz, A. Ruiz, C. Bachmann, Jan Eckhardt +11 more
2019Human Molecular Genetics26 citations Open access
Semantic Scholar
Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance
A. Ruiz, Erez Dror, Christoph Handschin, R. Furrer +4 more
2018Scientific Reports21 citations Open access
Semantic Scholar
Screening of GPCR drugs for repurposing in breast cancer
Noor M. Abdulkareem, R. Bhat, R. Powell, Soumya G. Chikermane +14 more
2022Frontiers in Pharmacology16 citations Open access
Semantic Scholar
Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors
A. Ruiz, S. Benucci, U. Duthaler, C. Bachmann +6 more
2021bioRxiv16 citations Open access
Semantic Scholar
Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies
Jan Eckhardt, A. Ruiz, Stéphane Koenig, M. Frieden +4 more
2022bioRxiv15 citations Open access
Semantic Scholar
Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.
M. Elbaz, A. Ruiz, Jan Eckhardt, P. Pelczar +4 more
2019Human Molecular Genetics9 citations
Semantic Scholar
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice
S. Benucci, A. Ruiz, Martina Franchini, Lucia Ruggiero +8 more
2024The Journal of General Physiology6 citations Open access
Semantic Scholar
Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice
M. Elbaz, A. Ruiz, Sven Nicolay, C. Tupini +6 more
2020Journal of Biological Chemistry6 citations Open access
Semantic Scholar
Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations.
Jan Eckhardt, C. Bachmann, S. Benucci, M. Elbaz +3 more
2020Human Molecular Genetics5 citations
Semantic Scholar
5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy.
A. Ruiz, Faiza Noreen, Hervé Meier, Katarzyna Buczak +2 more
2025Human Molecular Genetics2 citations
Semantic Scholar
Temperature Effects on the Myoplasmic Free Ca2+ Transients in FDB Muscle Fibers of the Mouse
A. Ruiz, J. C. Calderón, P. Bolaños, C. Caputo
20141 citations Open access
Semantic Scholar
RYR1 mutations linked to malignant hyperthermia susceptibility are associated with phenotypic changes in human B-lymphocytes
Hui-Ying Li, P. Andrade, Irem Huriye Ceren, A. Ruiz +7 more
2026Frontiers in Immunology0 citations Open access
Semantic Scholar
Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis
A. Ruiz, S. Benucci, Hervé Meier, Georg Schultz +5 more
2024bioRxiv0 citations Open access
Semantic Scholar
O.04 Improvement of muscle strength in a mouse model for recessive RYR1-related congenital myopathy treated with HDAC and inhibitors
A. Ruiz, S. Benucci, M. Franchini, S. Treves +1 more
2022Neuromuscular Disorders0 citations
Semantic Scholar
CONGENITAL MYOPATHIES
S. Benucci, M. Franchini, A. Ruiz, C. Bachmann +4 more
2021Neuromuscular Disorders0 citations
Semantic Scholar
CONGENITAL MYOPATHIES
A. Ruiz, C. Bachmann, S. Benucci, M. Franchini +2 more
2021Neuromuscular Disorders0 citations
Semantic Scholar
Characterization of an Animal Model for Congenital Myopathies Linked to Recessive RyR1 Mutations
M. Elbaz, A. Ruiz, Jan Eckhardt, S. Treves +1 more
2019Biophysical Journal0 citations Open access
Semantic Scholar

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