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

Andres Berardo

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

Pageof 1
Sort By:
Journal of Translational Genetics and Genomics|January 11, 2021
Redefining infantile-onset multisystem phenotypes of coenzyme Q<sub>10</sub>-deficiency in the next-generation sequencing eraAndres Berardo, Catarina M Quinzii
Current Neurology and Neuroscience Reports|April 29, 2010
A diagnostic algorithm for metabolic myopathiesAndres Berardo, Salvatore DiMauro, Michio Hirano
Journal of Neuromuscular Diseases|January 31, 2022
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging TherapiesAndres Berardo, Cristina Domínguez-González, Kristin Engelstad, et al.
Neuromuscular Disorders : NMD|February 13, 2010
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO)Andres Berardo, Jorida Coku, Bulent Kurt, et al.
Journal of Neurology|November 29, 2019
Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6Andres Berardo, Valentina Emmanuele, Wendy Vargas, et al.
Journal of Inherited Metabolic Disease|December 28, 2020
Regulatory environment for novel therapeutic development in mitochondrial diseasesMichio Hirano, Andres Berardo, Emanuele Barca, et al.
Archives of Neurology|April 12, 2012
Heterogeneity of coenzyme Q10 deficiency: patient study and literature reviewValentina Emmanuele, Luis C López, Luis López, et al.
Journal of Neurology|January 23, 2019
Expanding the importance of HMERF titinopathy: new mutations and clinical aspectsJohanna Palmio, Sarah Leonard-Louis, Sabrina Sacconi, et al.
Scientific Reports|June 24, 2020
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathyCristina Dominguez-Gonzalez, Carmen Badosa, Marcos Madruga-Garrido, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 23, 2013
Hereditary myopathy with early respiratory failure: occurrence in various populationsJohanna Palmio, Anni Evilä, Françoise Chapon, et al.
Pageof 1

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

Sort By:
Pageof 1
Journal of Translational Genetics and Genomics|January 11, 2021
Redefining infantile-onset multisystem phenotypes of coenzyme Q<sub>10</sub>-deficiency in the next-generation sequencing eraAndres Berardo, Catarina M Quinzii
Current Neurology and Neuroscience Reports|April 29, 2010
A diagnostic algorithm for metabolic myopathiesAndres Berardo, Salvatore DiMauro, Michio Hirano
Journal of Neuromuscular Diseases|January 31, 2022
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging TherapiesAndres Berardo, Cristina Domínguez-González, Kristin Engelstad, et al.
Neuromuscular Disorders : NMD|February 13, 2010
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO)Andres Berardo, Jorida Coku, Bulent Kurt, et al.
Journal of Neurology|November 29, 2019
Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6Andres Berardo, Valentina Emmanuele, Wendy Vargas, et al.
Journal of Inherited Metabolic Disease|December 28, 2020
Regulatory environment for novel therapeutic development in mitochondrial diseasesMichio Hirano, Andres Berardo, Emanuele Barca, et al.
Archives of Neurology|April 12, 2012
Heterogeneity of coenzyme Q10 deficiency: patient study and literature reviewValentina Emmanuele, Luis C López, Luis López, et al.
Journal of Neurology|January 23, 2019
Expanding the importance of HMERF titinopathy: new mutations and clinical aspectsJohanna Palmio, Sarah Leonard-Louis, Sabrina Sacconi, et al.
Scientific Reports|June 24, 2020
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathyCristina Dominguez-Gonzalez, Carmen Badosa, Marcos Madruga-Garrido, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 23, 2013
Hereditary myopathy with early respiratory failure: occurrence in various populationsJohanna Palmio, Anni Evilä, Françoise Chapon, et al.
Pageof 1