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

Alice Donati

Showing results (31-40 of 117) with videos related to

Pageof 12
Sort By:
JAMA Neurology|July 10, 2013
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9Caterina Garone, Maria Alice Donati, Michele Sacchini, et al.
Brain : a Journal of Neurology|February 4, 2005
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaAGianfrancesco Ferrari, Eleonora Lamantea, Alice Donati, et al.
Metabolic Brain Disease|June 4, 2017
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progressionFederica Deodato, Elena Procopio, Angelica Rampazzo, et al.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference|December 3, 2025
Machine Learning to Improve the Access to the Clinical Pathway for Children with Specific Learning DisabilitiesLinda G Dui, Alice Donati, Emanuele Tauro, et al.
Molecular Genetics and Metabolism|July 5, 2017
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterizationGiulia Frisso, Monica Gelzo, Elena Procopio, et al.
Human Molecular Genetics|April 4, 2007
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathyErika Fernandez-Vizarra, Marianna Bugiani, Paola Goffrini, et al.
International Journal of Cardiology|November 29, 2018
Clinical profile and outcome of cardiac involvement in MELAS syndromeAlice Brambilla, Silvia Favilli, Iacopo Olivotto, et al.
BMC Medical Genomics|June 13, 2021
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunctionBeatrice Berti, Giovanna Longo, Francesco Mari, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 30, 2008
Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spotsNicoletta Gasparotto, Rosella Tomanin, Anna Chiara Frigo, et al.
Frontiers in Physiology|June 2, 2020
Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated CardiomyopathyJosè Manuel Pioner, Alessandra Fornaro, Raffaele Coppini, et al.
Pageof 12

Showing results (31-40 of 117) with videos related to

Sort By:
Pageof 12
JAMA Neurology|July 10, 2013
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9Caterina Garone, Maria Alice Donati, Michele Sacchini, et al.
Brain : a Journal of Neurology|February 4, 2005
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaAGianfrancesco Ferrari, Eleonora Lamantea, Alice Donati, et al.
Metabolic Brain Disease|June 4, 2017
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progressionFederica Deodato, Elena Procopio, Angelica Rampazzo, et al.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference|December 3, 2025
Machine Learning to Improve the Access to the Clinical Pathway for Children with Specific Learning DisabilitiesLinda G Dui, Alice Donati, Emanuele Tauro, et al.
Molecular Genetics and Metabolism|July 5, 2017
A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterizationGiulia Frisso, Monica Gelzo, Elena Procopio, et al.
Human Molecular Genetics|April 4, 2007
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathyErika Fernandez-Vizarra, Marianna Bugiani, Paola Goffrini, et al.
International Journal of Cardiology|November 29, 2018
Clinical profile and outcome of cardiac involvement in MELAS syndromeAlice Brambilla, Silvia Favilli, Iacopo Olivotto, et al.
BMC Medical Genomics|June 13, 2021
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunctionBeatrice Berti, Giovanna Longo, Francesco Mari, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 30, 2008
Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spotsNicoletta Gasparotto, Rosella Tomanin, Anna Chiara Frigo, et al.
Frontiers in Physiology|June 2, 2020
Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated CardiomyopathyJosè Manuel Pioner, Alessandra Fornaro, Raffaele Coppini, et al.
Pageof 12