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Ali B Naini

Showing results (11-20 of 23) with videos related to

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Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|May 10, 2014
Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALSShingo Kariya, Jacinda B Sampson, Lesley E Northrop, et al.
Mitochondrion|September 1, 2024
Relationships of mitochondrial DNA mutations and select clinical diagnoses in perinatally HIV- and ART-exposed uninfected childrenGreg S Gojanovich, Carmen J Marsit, Deborah Kacanek, et al.
Plos One|August 30, 2018
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndromeKirsten E Hoff, Karen L DeBalsi, Maria J Sanchez-Quintero, et al.
Archives of Neurology|March 12, 2008
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 casesSara Shanske, Jorida Coku, Jiesheng Lu, et al.
Pediatric Research|January 23, 2003
Mutation screening in patients with isolated cytochrome c oxidase deficiencySabrina Sacconi, Leonardo Salviati, Carolyn M Sue, et al.
Analytical Biochemistry|May 15, 2012
Mitochondrial single nucleotide polymorphism genotyping by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry using cleavable biotinylated dideoxynucleotidesChunmei Qiu, Shiv Kumar, Jia Guo, et al.
Archives of Neurology|March 12, 2008
Amyotrophic lateral sclerosis with ragged-red fibersMichio Hirano, Corrado Angelini, Pasquale Montagna, et al.
Journal of the Neurological Sciences|March 4, 2008
A novel tRNA(Val) mitochondrial DNA mutation causing MELASKurenai Tanji, Petra Kaufmann, Ali B Naini, et al.
European Journal of Medical Genetics|September 5, 2016
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletionHemant Varma, Phyllis L Faust, Alejandro D Iglesias, et al.
Annals of Neurology|September 3, 2002
Mitochondrial DNA depletion and dGK gene mutationsLeonardo Salviati, Sabrina Sacconi, Michelangelo Mancuso, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|May 10, 2014
Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALSShingo Kariya, Jacinda B Sampson, Lesley E Northrop, et al.
Mitochondrion|September 1, 2024
Relationships of mitochondrial DNA mutations and select clinical diagnoses in perinatally HIV- and ART-exposed uninfected childrenGreg S Gojanovich, Carmen J Marsit, Deborah Kacanek, et al.
Plos One|August 30, 2018
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndromeKirsten E Hoff, Karen L DeBalsi, Maria J Sanchez-Quintero, et al.
Archives of Neurology|March 12, 2008
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 casesSara Shanske, Jorida Coku, Jiesheng Lu, et al.
Pediatric Research|January 23, 2003
Mutation screening in patients with isolated cytochrome c oxidase deficiencySabrina Sacconi, Leonardo Salviati, Carolyn M Sue, et al.
Analytical Biochemistry|May 15, 2012
Mitochondrial single nucleotide polymorphism genotyping by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry using cleavable biotinylated dideoxynucleotidesChunmei Qiu, Shiv Kumar, Jia Guo, et al.
Archives of Neurology|March 12, 2008
Amyotrophic lateral sclerosis with ragged-red fibersMichio Hirano, Corrado Angelini, Pasquale Montagna, et al.
Journal of the Neurological Sciences|March 4, 2008
A novel tRNA(Val) mitochondrial DNA mutation causing MELASKurenai Tanji, Petra Kaufmann, Ali B Naini, et al.
European Journal of Medical Genetics|September 5, 2016
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletionHemant Varma, Phyllis L Faust, Alejandro D Iglesias, et al.
Annals of Neurology|September 3, 2002
Mitochondrial DNA depletion and dGK gene mutationsLeonardo Salviati, Sabrina Sacconi, Michelangelo Mancuso, et al.
Pageof 3