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S Shanske

Showing results (131-140 of 141) with videos related to

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Neurology|June 17, 1999
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) geneC M Sue, K Tanji, G Hadjigeorgiou, et al.
Journal of Inherited Metabolic Disease|October 27, 2004
Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiencyC P Venditti, M C Harris, D Huff, et al.
Neurology|June 20, 1998
Clinical manifestations of mitochondrial DNA depletionT H Vu, M Sciacco, K Tanji, et al.
Annals of Neurology|June 1, 1996
Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patientsF M Santorelli, M Sciacco, K Tanji, et al.
Neurology|April 11, 2001
Familial cerebellar ataxia with muscle coenzyme Q10 deficiencyO Musumeci, A Naini, A E Slonim, et al.
Neurology|May 1, 1997
Mitochondrial encephalomyopathy with coenzyme Q10 deficiencyC Sobreira, M Hirano, S Shanske, et al.
Annals of Neurology|May 11, 2000
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2C M Sue, C Karadimas, N Checcarelli, et al.
Neurology|November 19, 2011
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotypeP Kaufmann, K Engelstad, Y Wei, 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.
Nature|September 6, 2000
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)I Nishino, J Fu, K Tanji, et al.
Pageof 15

Showing results (131-140 of 141) with videos related to

Sort By:
Pageof 15
Neurology|June 17, 1999
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) geneC M Sue, K Tanji, G Hadjigeorgiou, et al.
Journal of Inherited Metabolic Disease|October 27, 2004
Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiencyC P Venditti, M C Harris, D Huff, et al.
Neurology|June 20, 1998
Clinical manifestations of mitochondrial DNA depletionT H Vu, M Sciacco, K Tanji, et al.
Annals of Neurology|June 1, 1996
Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patientsF M Santorelli, M Sciacco, K Tanji, et al.
Neurology|April 11, 2001
Familial cerebellar ataxia with muscle coenzyme Q10 deficiencyO Musumeci, A Naini, A E Slonim, et al.
Neurology|May 1, 1997
Mitochondrial encephalomyopathy with coenzyme Q10 deficiencyC Sobreira, M Hirano, S Shanske, et al.
Annals of Neurology|May 11, 2000
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2C M Sue, C Karadimas, N Checcarelli, et al.
Neurology|November 19, 2011
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotypeP Kaufmann, K Engelstad, Y Wei, 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.
Nature|September 6, 2000
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)I Nishino, J Fu, K Tanji, et al.
Pageof 15