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

Maria Alice Donati

Showing results (21-30 of 82) with videos related to

Pageof 9
Sort By:
European Journal of Medical Genetics|June 30, 2023
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-upMartino Montomoli, Annalisa Vetro, Flavia Tubili, et al.
JAMA Neurology|July 10, 2013
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9Caterina Garone, Maria Alice Donati, Michele Sacchini, 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.
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.
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.
Metabolic Brain Disease|July 1, 2017
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding siteSara Leo, Concetta Capo, Bianca Maria Ciminelli, et al.
Molecular Genetics and Metabolism|December 3, 2019
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvementMargherita Protasoni, Claudio Bruno, Maria Alice Donati, et al.
Pageof 9

Showing results (21-30 of 82) with videos related to

Sort By:
Pageof 9
European Journal of Medical Genetics|June 30, 2023
A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-upMartino Montomoli, Annalisa Vetro, Flavia Tubili, et al.
JAMA Neurology|July 10, 2013
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9Caterina Garone, Maria Alice Donati, Michele Sacchini, 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.
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.
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.
Metabolic Brain Disease|July 1, 2017
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding siteSara Leo, Concetta Capo, Bianca Maria Ciminelli, et al.
Molecular Genetics and Metabolism|December 3, 2019
Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvementMargherita Protasoni, Claudio Bruno, Maria Alice Donati, et al.
Pageof 9