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Claudia Compagnucci

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Molecular Genetics and Metabolism|March 15, 2026
Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotypeJacopo Sartorelli, Paulo Sgobbi, Roberta Battini, et al.
Scientific Reports|April 7, 2017
Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavinFederica Rizzo, Agnese Ramirez, Claudia Compagnucci, et al.
Developmental Biology|March 12, 2013
Pattern and polarity in the development and evolution of the gnathostome jaw: both conservation and heterotopy in the branchial arches of the shark, Scyliorhinus caniculaClaudia Compagnucci, Melanie Debiais-Thibaud, Marion Coolen, et al.
International Journal of Molecular Sciences|October 10, 2020
Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem CellsChiara Marioli, Valentina Magliocca, Stefania Petrini, et al.
Archives of Biochemistry and Biophysics|November 24, 2025
Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2Maria Tolomeo, Valentina Magliocca, Stefania Petrini, et al.
CSH Protocols|March 2, 2011
The Dogfish Scyliorhinus canicula: A Reference in Jawed VertebratesMarion Coolen, Arnaud Menuet, Danièle Chassoux, et al.
Brain : a Journal of Neurology|May 8, 2021
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafnessAntonella Sferra, Paola Fortugno, Marialetizia Motta, et al.
American Journal of Human Genetics|September 27, 2016
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular AtrophyAntonella Sferra, Gilbert Baillat, Teresa Rizza, et al.
Cell Reports|September 7, 2025
ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relationMatteo Bordi, Beatrice Testa, Claudia Compagnucci, et al.
Human Molecular Genetics|August 26, 2022
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypesElisabetta Flex, Shahad Albadri, Francesca Clementina Radio, et al.
Pageof 5

Showing results (41-50 of 50) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 50 results.
Molecular Genetics and Metabolism|March 15, 2026
Clinical-genetic features of the TBCE-related spectrum disorders: A focus on the childhood-onset neurodegenerative phenotypeJacopo Sartorelli, Paulo Sgobbi, Roberta Battini, et al.
Scientific Reports|April 7, 2017
Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavinFederica Rizzo, Agnese Ramirez, Claudia Compagnucci, et al.
Developmental Biology|March 12, 2013
Pattern and polarity in the development and evolution of the gnathostome jaw: both conservation and heterotopy in the branchial arches of the shark, Scyliorhinus caniculaClaudia Compagnucci, Melanie Debiais-Thibaud, Marion Coolen, et al.
International Journal of Molecular Sciences|October 10, 2020
Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem CellsChiara Marioli, Valentina Magliocca, Stefania Petrini, et al.
Archives of Biochemistry and Biophysics|November 24, 2025
Altered dimerization of certain riboflavin transporter 2 mutants: a possible source of UPR, altered calcium signalling and mitochondrial derangements in RTD2Maria Tolomeo, Valentina Magliocca, Stefania Petrini, et al.
CSH Protocols|March 2, 2011
The Dogfish Scyliorhinus canicula: A Reference in Jawed VertebratesMarion Coolen, Arnaud Menuet, Danièle Chassoux, et al.
Brain : a Journal of Neurology|May 8, 2021
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafnessAntonella Sferra, Paola Fortugno, Marialetizia Motta, et al.
American Journal of Human Genetics|September 27, 2016
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular AtrophyAntonella Sferra, Gilbert Baillat, Teresa Rizza, et al.
Cell Reports|September 7, 2025
ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relationMatteo Bordi, Beatrice Testa, Claudia Compagnucci, et al.
Human Molecular Genetics|August 26, 2022
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypesElisabetta Flex, Shahad Albadri, Francesca Clementina Radio, et al.
Pageof 5