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D R Thorburn

Showing results (61-70 of 69) with videos related to

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Journal of Medical Genetics|October 7, 2004
Mutations of the mitochondrial ND1 gene as a cause of MELASD M Kirby, R McFarland, A Ohtake, et al.
Translational Psychiatry|January 7, 2015
N-Acetylcysteine improves mitochondrial function and ameliorates behavioral deficits in the R6/1 mouse model of Huntington's diseaseD J Wright, T Renoir, Z M Smith, et al.
The EMBO Journal|June 9, 2007
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause diseaseC J R Dunning, M McKenzie, C Sugiana, et al.
JIMD Reports|July 25, 2016
Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)Shanti Balasubramaniam, B Lewis, D M Mock, et al.
JIMD Reports|October 28, 2017
Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)Shanti Balasubramaniam, B Lewis, D M Mock, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 20, 2004
No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutationM Deschauer, P F Chinnery, A M Schaefer, et al.
JIMD Reports|April 15, 2018
Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 MutationsC A Stutterd, N J Lake, H Peters, et al.
The Journal of Pediatrics|August 4, 1999
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathyC Bruno, D M Kirby, Y Koga, et al.
Neurology|July 15, 2011
De novo SCN1A mutations in migrating partial seizures of infancyD Carranza Rojo, L Hamiwka, J M McMahon, et al.
Pageof 7

Showing results (61-70 of 69) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 69 results.
Journal of Medical Genetics|October 7, 2004
Mutations of the mitochondrial ND1 gene as a cause of MELASD M Kirby, R McFarland, A Ohtake, et al.
Translational Psychiatry|January 7, 2015
N-Acetylcysteine improves mitochondrial function and ameliorates behavioral deficits in the R6/1 mouse model of Huntington's diseaseD J Wright, T Renoir, Z M Smith, et al.
The EMBO Journal|June 9, 2007
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause diseaseC J R Dunning, M McKenzie, C Sugiana, et al.
JIMD Reports|July 25, 2016
Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)Shanti Balasubramaniam, B Lewis, D M Mock, et al.
JIMD Reports|October 28, 2017
Erratum: Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD)Shanti Balasubramaniam, B Lewis, D M Mock, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 20, 2004
No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutationM Deschauer, P F Chinnery, A M Schaefer, et al.
JIMD Reports|April 15, 2018
Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 MutationsC A Stutterd, N J Lake, H Peters, et al.
The Journal of Pediatrics|August 4, 1999
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathyC Bruno, D M Kirby, Y Koga, et al.
Neurology|July 15, 2011
De novo SCN1A mutations in migrating partial seizures of infancyD Carranza Rojo, L Hamiwka, J M McMahon, et al.
Pageof 7