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Daniela Verrigni

Showing results (11-20 of 33) with videos related to

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Neurogenetics|September 19, 2012
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesisAlessandra Torraco, Daniela Verrigni, Teresa Rizza, et al.
American Journal of Medical Genetics. Part A|January 31, 2025
MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature ReviewAngela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, et al.
Biochemical and Biophysical Research Communications|October 27, 2011
Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathyMarzia Bianchi, Teresa Rizza, Daniela Verrigni, et al.
Journal of Human Genetics|March 14, 2018
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysisAlessia Catania, Anna Ardissone, Daniela Verrigni, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|January 31, 2017
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translationMichela Di Nottia, Arianna Montanari, Daniela Verrigni, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron diseaseDaria Diodato, Giorgio Tasca, Daniela Verrigni, et al.
Neurogenetics|March 28, 2013
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiencyCélia Nogueira, José Barros, Maria José Sá, et al.
American Journal of Medical Genetics. Part A|February 17, 2026
First Report of a Child With a DeSanto-Shinawi Syndrome and a Polymorphous Low-Grade Neuroepithelial Tumor of the YoungSelene Cipri, Antonella Cacchione, Emanuele Agolini, et al.
Human Molecular Genetics|May 17, 2018
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteinsAlessandra Torraco, Oliver Stehling, Claudia Stümpfig, et al.
Mitochondrion|September 25, 2014
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2Rosalba Carrozzo, Alessandra Torraco, Giuseppe Fiermonte, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Neurogenetics|September 19, 2012
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesisAlessandra Torraco, Daniela Verrigni, Teresa Rizza, et al.
American Journal of Medical Genetics. Part A|January 31, 2025
MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature ReviewAngela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, et al.
Biochemical and Biophysical Research Communications|October 27, 2011
Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathyMarzia Bianchi, Teresa Rizza, Daniela Verrigni, et al.
Journal of Human Genetics|March 14, 2018
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysisAlessia Catania, Anna Ardissone, Daniela Verrigni, et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease|January 31, 2017
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translationMichela Di Nottia, Arianna Montanari, Daniela Verrigni, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron diseaseDaria Diodato, Giorgio Tasca, Daniela Verrigni, et al.
Neurogenetics|March 28, 2013
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiencyCélia Nogueira, José Barros, Maria José Sá, et al.
American Journal of Medical Genetics. Part A|February 17, 2026
First Report of a Child With a DeSanto-Shinawi Syndrome and a Polymorphous Low-Grade Neuroepithelial Tumor of the YoungSelene Cipri, Antonella Cacchione, Emanuele Agolini, et al.
Human Molecular Genetics|May 17, 2018
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteinsAlessandra Torraco, Oliver Stehling, Claudia Stümpfig, et al.
Mitochondrion|September 25, 2014
Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2Rosalba Carrozzo, Alessandra Torraco, Giuseppe Fiermonte, et al.
Pageof 4