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Massimo Zeviani

Showing results (241-250 of 289) with videos related to

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American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.
Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.
Nucleic Acids Research|May 6, 2021
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletionPedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, et al.
Nucleic Acids Research|September 14, 2021
Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, et al.
Human Molecular Genetics|January 8, 2016
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckIan J Wilson, Phillipa J Carling, Charlotte L Alston, et al.
Journal of Medical Genetics|May 23, 2020
Mutation in the MICOS subunit gene <i>APOO</i> (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic featuresCristiane Benincá, Vanessa Zanette, Michele Brischigliaro, et al.
American Journal of Human Genetics|September 24, 2004
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene poolAlessandro Achilli, Chiara Rengo, Chiara Magri, et al.
Pediatric Research|July 8, 2009
Lactic acidosis in a newborn with adrenal calcificationsAlexandra Zecic, Joél E Smet, Claudine M De Praeter, et al.
Cell Metabolism|December 25, 2016
Transcription Factor EB Controls Metabolic Flexibility during ExerciseGelsomina Mansueto, Andrea Armani, Carlo Viscomi, et al.
Journal of Medical Genetics|May 17, 2018
Mitochondrial <i>PITRM1</i> peptidase loss-of-function in childhood cerebellar atrophyYeshaya Langer, Adi Aran, Suleyman Gulsuner, et al.
Pageof 29

Showing results (241-250 of 289) with videos related to

Sort By:
Pageof 29
American Journal of Human Genetics|January 31, 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndromeJohannes A Mayr, Tobias B Haack, Elisabeth Graf, et al.
Neurology. Genetics|February 12, 2020
Expanding the molecular and phenotypic spectrum of truncating <i>MT-ATP6</i> mutationsEnrico Bugiardini, Emanuela Bottani, Silvia Marchet, et al.
Nucleic Acids Research|May 6, 2021
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletionPedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, et al.
Nucleic Acids Research|September 14, 2021
Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, et al.
Human Molecular Genetics|January 8, 2016
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckIan J Wilson, Phillipa J Carling, Charlotte L Alston, et al.
Journal of Medical Genetics|May 23, 2020
Mutation in the MICOS subunit gene <i>APOO</i> (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic featuresCristiane Benincá, Vanessa Zanette, Michele Brischigliaro, et al.
American Journal of Human Genetics|September 24, 2004
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene poolAlessandro Achilli, Chiara Rengo, Chiara Magri, et al.
Pediatric Research|July 8, 2009
Lactic acidosis in a newborn with adrenal calcificationsAlexandra Zecic, Joél E Smet, Claudine M De Praeter, et al.
Cell Metabolism|December 25, 2016
Transcription Factor EB Controls Metabolic Flexibility during ExerciseGelsomina Mansueto, Andrea Armani, Carlo Viscomi, et al.
Journal of Medical Genetics|May 17, 2018
Mitochondrial <i>PITRM1</i> peptidase loss-of-function in childhood cerebellar atrophyYeshaya Langer, Adi Aran, Suleyman Gulsuner, et al.
Pageof 29