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

Martino Montomoli

Showing results (1-10 of 25) with videos related to

Pageof 3
Sort By:
Essays in Biochemistry|July 22, 2018
Neuroimaging in mitochondrial disordersMario Mascalchi, Martino Montomoli, Renzo Guerrini
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.
Molecular Genetics and Metabolism|March 18, 2018
Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142]Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, et al.
Data in Brief|January 31, 2018
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, et al.
Molecular Genetics and Metabolism|August 19, 2017
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutationMartino L di Salvo, Mario Mastrangelo, Isabel Nogués, et al.
Epilepsia|August 18, 2025
Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registryFrancesca Furia, Sopio Gverdtsiteli, Wibke Janzarik, et al.
Molecular Genetics and Metabolism|December 6, 2021
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patientsEleonora Mura, Francesco Nicita, Silvia Masnada, et al.
Epilepsy Research|January 28, 2021
Deciphering the premature mortality in PIGA-CDG - An untold storyAllan Bayat, Marius Kløvgaard, Katrine M Johannesen, et al.
Human Molecular Genetics|October 4, 2017
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndromeCaterina Garone, Aaron R D'Souza, Cristina Dallabona, et al.
Human Mutation|November 20, 2016
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different GenesElena Parrini, Carla Marini, Davide Mei, et al.
Pageof 3

Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
Essays in Biochemistry|July 22, 2018
Neuroimaging in mitochondrial disordersMario Mascalchi, Martino Montomoli, Renzo Guerrini
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.
Molecular Genetics and Metabolism|March 18, 2018
Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142]Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, et al.
Data in Brief|January 31, 2018
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO)Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, et al.
Molecular Genetics and Metabolism|August 19, 2017
Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutationMartino L di Salvo, Mario Mastrangelo, Isabel Nogués, et al.
Epilepsia|August 18, 2025
Differential outcomes in familial and sporadic SCN8A self-limited infantile epilepsies: Insights from a large international registryFrancesca Furia, Sopio Gverdtsiteli, Wibke Janzarik, et al.
Molecular Genetics and Metabolism|December 6, 2021
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patientsEleonora Mura, Francesco Nicita, Silvia Masnada, et al.
Epilepsy Research|January 28, 2021
Deciphering the premature mortality in PIGA-CDG - An untold storyAllan Bayat, Marius Kløvgaard, Katrine M Johannesen, et al.
Human Molecular Genetics|October 4, 2017
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndromeCaterina Garone, Aaron R D'Souza, Cristina Dallabona, et al.
Human Mutation|November 20, 2016
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different GenesElena Parrini, Carla Marini, Davide Mei, et al.
Pageof 3