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C Marsac

Showing results (71-80 of 91) with videos related to

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Pediatric Research|December 1, 1994
Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathyL De Meirleir, W Lissens, C Benelli, et al.
Human Mutation|April 24, 2001
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiencyM O Péquignot, R Dey, M Zeviani, et al.
Neuromuscular Disorders : NMD|September 1, 1993
Merrf family with 8344 mutation in tRNA (lys). Evidence of a mitochondrial vasculopathy in muscle biopsiesM Coquet, F Degoul, A Vital, et al.
Transplantation|November 1, 1990
Evidence of mitochondrial impairment during cardiac allograft rejectionD Duboc, P Abastado, M Muffat-Joly, et al.
Journal of Inherited Metabolic Disease|March 21, 1998
Pyruvate dehydrogenase complex deficiency and absence of subunit XL De Meirleir, W Lissens, C Benelli, et al.
European Journal of Pediatrics|October 1, 1981
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosisA Munnich, J M Saudubray, A Cotisson, et al.
Prenatal Diagnosis|December 11, 1999
First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complexC Rouillac, B Aral, F Fouque, et al.
Pediatrics|February 1, 1996
Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemiaV Geoffroy, F Fouque, C Benelli, et al.
Acta Paediatrica Scandinavica|January 1, 1982
Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiencyA Munnich, J M Saudubray, J Taylor, et al.
Nucleic Acids Research|October 25, 1989
Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndromeI Nelson, F Degoul, B Obermaier-Kusser, et al.
Pageof 10

Showing results (71-80 of 91) with videos related to

Sort By:
Pageof 10
Pediatric Research|December 1, 1994
Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathyL De Meirleir, W Lissens, C Benelli, et al.
Human Mutation|April 24, 2001
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiencyM O Péquignot, R Dey, M Zeviani, et al.
Neuromuscular Disorders : NMD|September 1, 1993
Merrf family with 8344 mutation in tRNA (lys). Evidence of a mitochondrial vasculopathy in muscle biopsiesM Coquet, F Degoul, A Vital, et al.
Transplantation|November 1, 1990
Evidence of mitochondrial impairment during cardiac allograft rejectionD Duboc, P Abastado, M Muffat-Joly, et al.
Journal of Inherited Metabolic Disease|March 21, 1998
Pyruvate dehydrogenase complex deficiency and absence of subunit XL De Meirleir, W Lissens, C Benelli, et al.
European Journal of Pediatrics|October 1, 1981
Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosisA Munnich, J M Saudubray, A Cotisson, et al.
Prenatal Diagnosis|December 11, 1999
First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complexC Rouillac, B Aral, F Fouque, et al.
Pediatrics|February 1, 1996
Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemiaV Geoffroy, F Fouque, C Benelli, et al.
Acta Paediatrica Scandinavica|January 1, 1982
Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiencyA Munnich, J M Saudubray, J Taylor, et al.
Nucleic Acids Research|October 25, 1989
Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndromeI Nelson, F Degoul, B Obermaier-Kusser, et al.
Pageof 10