Share:

Alexis Ruiz

ScholarGPS® ID: 34192498154006

Affiliation

University of Basel, Basel, Switzerland

Affiliation History

Field

Medicine

Discipline

Anesthesiology

Top Specialties

Mutation

Metrics Summary

Publication Count

10

Predicted Citations

69

Predicted h-index

3

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

Add Delete
A novel, patient-derived RyR1 mutation impairs muscle function and calcium homeostasis in mice (journal article) Benucci, Sofia \| Ruiz, Alexis \| Franchini, Martina \| Ruggiero, Lucia \| Zoppi, Dario \| Sitsapesan, Rebecca \| Lindsay, Chris \| Pelczar, Pawel \| Pietrangelo, Laura \| Protasi, Feliciano \| ... \| Zorzato, Francesco Journal of General Physiology, volume 156, issue 4 (2024). 10.1085/jgp.202313486 Cite \| Source
Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies (journal article) Eckhardt, Jan \| Ruiz, Alexis \| Koenig, Stéphane \| Frieden, Maud \| Meier, Hervé \| Schmidt, Alexander \| Treves, Susan \| Zorzato, Francesco eLife, volume 12 (2023). 10.7554/eLife.83618 Cited by (7) \| Cite \| Source
Molecular basis of impaired muscle function in a mouse model of congenital myopathy due to compound heterozygous RYR1 mutations (journal article) Ruiz, Alexis \| Eckhardt, Jan \| Treves, Susan \| Zorzato, Francesco Journal of General Physiology, volume 154, issue 9 (2022). 10.1085/jgp.2021ecc26 Cite \| Source
Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors (journal article) Ruiz, Alexis \| Benucci, Sofia \| Duthaler, Urs \| Bachmann, Christoph \| Franchini, Martina \| Noreen, Faiza \| Pietrangelo, Laura \| Protasi, Feliciano \| Treves, Susan \| Zorzato, Francesco eLife, volume 11 (2022). 10.7554/eLife.73718 Cited by (6) \| Cite \| Source
Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice (journal article) Elbaz, Moran \| Ruiz, Alexis \| Nicolay, Sven \| Tupini, Chiara \| Bachmann, Christoph \| Eckhardt, Jan \| Benucci, Sofia \| Pelczar, Pawel \| Treves, Susan \| Zorzato, Francesco Journal of Biological Chemistry, volume 295, issue 30, pages 10331-10339 (2020). 10.1074/jbc.RA120.013846 Cited by (4) \| Cite \| Source
Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations (journal article) Eckhardt, Jan \| Bachmann, Christoph \| Benucci, Sofia \| Elbaz, Moran \| Ruiz, Alexis \| Zorzato, Francesco \| Treves, Susan Human Molecular Genetics, volume 29, issue 8, pages 1330-1339 (2020). 10.1093/hmg/ddaa056 Cited by (4) \| Cite \| Source
Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength (journal article) Elbaz, Moran \| Ruiz, Alexis \| Bachmann, Christoph \| Eckhardt, Jan \| Pelczar, Pawel \| Venturi, Elisa \| Lindsay, Chris \| Wilson, Abigail D \| Alhussni, Ahmed \| Humberstone, Thomas \| ... \| Zorzato, Francesco Human Molecular Genetics, volume 28, issue 18, pages 2987-2999 (2019). 10.1093/hmg/ddz092 Cited by (17) \| Cite \| Source
Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres (journal article) Elbaz, Moran \| Ruiz, Alexis \| Eckhardt, Jan \| Pelczar, Pawel \| Muntoni, Francesco \| Boncompagni, Simona \| Treves, Susan \| Zorzato, Francesco Human Molecular Genetics, volume 28, issue 11, pages 1872-1884 (2019). 10.1093/hmg/ddz025 Cited by (7) \| Cite \| Source
Characterization of an Animal Model for Congenital Myopathies Linked to Recessive RyR1 Mutations (journal article) Elbaz, Moran \| Ruiz, Alexis \| Eckhardt, Jan \| Treves, Susan \| Zorzato, Francesco Biophysical Journal, volume 116, issue 3, pages 522a- (2019). 10.1016/j.bpj.2018.11.2813 Cite \| Source
Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance (journal article) Ruiz, Alexis \| Dror, Erez \| Handschin, Christoph \| Furrer, Regula \| Perez-Schindler, Joaquin \| Bachmann, Christoph \| Treves, Susan \| Zorzato, Francesco Scientific Reports, volume 8, issue 1 (2018). 10.1038/s41598-017-18844-3 Cited by (17) \| Cite \| Source \| Open Access