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 Bugiardini

Showing results (51-60 of 66) with videos related to

Pageof 7
Sort By:
BMJ (Clinical Research Ed.)|November 4, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort studyKatherine R Schon, Rita Horvath, Wei Wei, et al.
Annals of Neurology|June 13, 2019
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort studyYi Shiau Ng, Mika H Martikainen, Gráinne S Gorman, et al.
Brain : a Journal of Neurology|March 24, 2017
Clinical and genetic characterization of leukoencephalopathies in adultsDavid S Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, et al.
Journal of Neuromuscular Diseases|February 6, 2026
A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH studyNicol C Voermans, Jeffrey M Statland, Lawrence J Hayward, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathyLiedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial DisorderNeringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.
Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Gene-Pseudogene Inversions as a Hidden Source of Missing HeritabilityIlaria Quartesan, Stefano Facchini, Arianna Manini, et al.
Nature Communications|October 17, 2024
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Nature Genetics|May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Pageof 7

Showing results (51-60 of 66) with videos related to

Sort By:
Pageof 7
BMJ (Clinical Research Ed.)|November 4, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort studyKatherine R Schon, Rita Horvath, Wei Wei, et al.
Annals of Neurology|June 13, 2019
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort studyYi Shiau Ng, Mika H Martikainen, Gráinne S Gorman, et al.
Brain : a Journal of Neurology|March 24, 2017
Clinical and genetic characterization of leukoencephalopathies in adultsDavid S Lynch, Anderson Rodrigues Brandão de Paiva, Wei Jia Zhang, et al.
Journal of Neuromuscular Diseases|February 6, 2026
A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH studyNicol C Voermans, Jeffrey M Statland, Lawrence J Hayward, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
A 5' UTR CCG expansion in <i>TBC1D7</i> causes oculopharyngodistal myopathyLiedewei Van de Vondel, Riccardo Curro, Stefano Facchini, et al.
Investigative Ophthalmology & Visual Science|June 4, 2025
Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial DisorderNeringa Jurkute, Heiko Brennenstuhl, Monika Kustermann, et al.
Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.
Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Gene-Pseudogene Inversions as a Hidden Source of Missing HeritabilityIlaria Quartesan, Stefano Facchini, Arianna Manini, et al.
Nature Communications|October 17, 2024
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestryAndrea Cortese, Sarah J Beecroft, Stefano Facchini, et al.
Nature Genetics|May 6, 2020
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetesAndrea Cortese, Yi Zhu, Adriana P Rebelo, et al.
Pageof 7