Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Eduardo Calpena

Showing results (1-10 of 39) with videos related to

Pageof 4
Sort By:
Plos One|August 1, 2015
Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal SpeciesEduardo Calpena, Francesc Palau, Carmen Espinós, et al.
Advances in Experimental Medicine and Biology|March 14, 2012
Autosomal recessive Charcot-Marie-Tooth neuropathyCarmen Espinós, Eduardo Calpena, Dolores Martínez-Rubio, et al.
Disease Models & Mechanisms|December 7, 2017
The <i>Drosophila junctophilin</i> gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathwayEduardo Calpena, Víctor López Del Amo, Mouli Chakraborty, et al.
European Journal of Pediatrics|August 18, 2014
New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical conditionEduardo Calpena, Anup Arunrao Deshpande, Sufin Yap, et al.
Journal of Medical Genetics|December 21, 2022
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of <i>SPRY1</i> (sprouty homolog 1) functionRebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, et al.
Genes|March 29, 2023
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene PanelsRebecca S Tooze, Eduardo Calpena, Astrid Weber, et al.
Human Molecular Genetics|August 30, 2014
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth diseaseDavid Pla-Martín, Eduardo Calpena, Vincenzo Lupo, et al.
Genetics|February 12, 2014
Membrane organization and cell fusion during mating in fission yeast requires multipass membrane protein Prm1M-Ángeles Curto, Mohammad Reza Sharifmoghadam, Eduardo Calpena, et al.
Scientific Reports|February 22, 2017
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca<sup>2+</sup> entry-stimulated respirationPaloma González-Sánchez, David Pla-Martín, Paula Martínez-Valero, et al.
Bioinformatics (Oxford, England)|July 28, 2019
amplimap: a versatile tool to process and analyze targeted NGS dataNils Koelling, Marie Bernkopf, Eduardo Calpena, et al.
Pageof 4

Showing results (1-10 of 39) with videos related to

Sort By:
Pageof 4
Plos One|August 1, 2015
Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal SpeciesEduardo Calpena, Francesc Palau, Carmen Espinós, et al.
Advances in Experimental Medicine and Biology|March 14, 2012
Autosomal recessive Charcot-Marie-Tooth neuropathyCarmen Espinós, Eduardo Calpena, Dolores Martínez-Rubio, et al.
Disease Models & Mechanisms|December 7, 2017
The <i>Drosophila junctophilin</i> gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathwayEduardo Calpena, Víctor López Del Amo, Mouli Chakraborty, et al.
European Journal of Pediatrics|August 18, 2014
New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical conditionEduardo Calpena, Anup Arunrao Deshpande, Sufin Yap, et al.
Journal of Medical Genetics|December 21, 2022
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of <i>SPRY1</i> (sprouty homolog 1) functionRebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, et al.
Genes|March 29, 2023
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene PanelsRebecca S Tooze, Eduardo Calpena, Astrid Weber, et al.
Human Molecular Genetics|August 30, 2014
Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth diseaseDavid Pla-Martín, Eduardo Calpena, Vincenzo Lupo, et al.
Genetics|February 12, 2014
Membrane organization and cell fusion during mating in fission yeast requires multipass membrane protein Prm1M-Ángeles Curto, Mohammad Reza Sharifmoghadam, Eduardo Calpena, et al.
Scientific Reports|February 22, 2017
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca<sup>2+</sup> entry-stimulated respirationPaloma González-Sánchez, David Pla-Martín, Paula Martínez-Valero, et al.
Bioinformatics (Oxford, England)|July 28, 2019
amplimap: a versatile tool to process and analyze targeted NGS dataNils Koelling, Marie Bernkopf, Eduardo Calpena, et al.
Pageof 4