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

Enrico Baruffini

Showing results (51-60 of 56) with videos related to

Pageof 6
Sort By:
You have reached the last page of results.This site can display upto 56 results.
Journal of Medical Genetics|May 17, 2018
Mitochondrial <i>PITRM1</i> peptidase loss-of-function in childhood cerebellar atrophyYeshaya Langer, Adi Aran, Suleyman Gulsuner, et al.
Cell Death & Disease|January 20, 2021
Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafishNicola Facchinello, Claudio Laquatra, Lisa Locatello, et al.
Human Mutation|August 10, 2013
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeastEnrico Baruffini, Cristina Dallabona, Federica Invernizzi, et al.
Human Mutation|February 26, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyDaniela Verrigni, Michela Di Nottia, Anna Ardissone, et al.
Human Mutation|May 4, 2021
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem diseaseGerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, et al.
Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.
Pageof 6

Showing results (51-60 of 56) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 56 results.
Journal of Medical Genetics|May 17, 2018
Mitochondrial <i>PITRM1</i> peptidase loss-of-function in childhood cerebellar atrophyYeshaya Langer, Adi Aran, Suleyman Gulsuner, et al.
Cell Death & Disease|January 20, 2021
Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafishNicola Facchinello, Claudio Laquatra, Lisa Locatello, et al.
Human Mutation|August 10, 2013
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeastEnrico Baruffini, Cristina Dallabona, Federica Invernizzi, et al.
Human Mutation|February 26, 2019
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathyDaniela Verrigni, Michela Di Nottia, Anna Ardissone, et al.
Human Mutation|May 4, 2021
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem diseaseGerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, et al.
Neurology|May 9, 2014
Novel (ovario) leukodystrophy related to AARS2 mutationsCristina Dallabona, Daria Diodato, Sietske H Kevelam, et al.
Pageof 6