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Results: 1-25 | 26-34
Results: 1-25/34
The other human genome
Authors: Shanske, AL Shanske, S DiMauro, S
Citation: Al. Shanske et al., The other human genome, ARCH PED AD, 155(11), 2001, pp. 1210-1216
A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy
Authors: Karadimas, C Tanji, K Geremek, M Chronopoulou, P Vu, T Krishna, S Sue, CM Shanske, S Bonilla, E DiMauro, S Lipson, M Bachman, R
Citation: C. Karadimas et al., A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy, J CHILD NEU, 16(7), 2001, pp. 531-533
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
Authors: Musumeci, O Naini, A Slonim, AE Skavin, N Hadjigeorgiou, GL Krawiecki, N Weissman, BM Tsao, CY Mendell, JR Shanske, S De Vivo, DC Hirano, M DiMauro, S
Citation: O. Musumeci et al., Familial cerebellar ataxia with muscle coenzyme Q10 deficiency, NEUROLOGY, 56(7), 2001, pp. 849-855
Surprises of genetic engineering - A possible model of polyglucosan body disease
Authors: Raben, N Danon, M Lu, N Lee, E Shliselfeld, L Skurat, AV Roach, PJ Lawrence, JC Musumeci, O Shanske, S DiMauro, S Plotz, P
Citation: N. Raben et al., Surprises of genetic engineering - A possible model of polyglucosan body disease, NEUROLOGY, 56(12), 2001, pp. 1739-1745
G8363A mutation in the mitochondrial DNA transfer ribonucleic acid(Lys) gene: Another cause of Leigh syndrome
Authors: Shtilbans, A Shanske, S Goodman, S Sue, CM Bruno, C Johnson, TL Lava, NS Waheed, N DiMauro, S
Citation: A. Shtilbans et al., G8363A mutation in the mitochondrial DNA transfer ribonucleic acid(Lys) gene: Another cause of Leigh syndrome, J CHILD NEU, 15(11), 2000, pp. 759-761
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy
Authors: Thyagarajan, D Bressman, S Bruno, C Przedborski, S Shanske, S Lynch, T Fahn, S DiMauro, S
Citation: D. Thyagarajan et al., A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy, ANN NEUROL, 48(5), 2000, pp. 730-736
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2
Authors: Sue, CM Karadimas, C Checcarelli, N Tanji, K Papadopoulou, LC Pallotti, F Guo, FL Shanske, S Hirano, M De Vivo, DC Van Coster, R Kaplan, P Bonilla, E DiMauro, S
Citation: Cm. Sue et al., Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2, ANN NEUROL, 47(5), 2000, pp. 589-595
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy
Authors: Andreu, AL Checcarelli, N Iwata, S Shanske, S DiMauro, S
Citation: Al. Andreu et al., A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy, PEDIAT RES, 48(3), 2000, pp. 311-314
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA
Authors: Karadimas, CL Greenstein, P Sue, CM Joseph, JT Tanji, K Haller, RG Taivassalo, T Davidson, MM Shanske, S Bonilla, E DiMauro, S
Citation: Cl. Karadimas et al., Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA, NEUROLOGY, 55(5), 2000, pp. 644-649
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
Authors: Nishino, I Fu, J Tanji, K Yamada, T Shimojo, S Koori, T Mora, M Riggs, JE Oh, SJ Koga, Y Sue, CM Yamamoto, A Murakami, N Shanske, S Byrne, E Bonilla, E Nonaka, I DiMauro, S Hirano, M
Citation: I. Nishino et al., Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease), NATURE, 406(6798), 2000, pp. 906-910
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease
Authors: Fernandez, R Navarro, C Andreu, AL Bruno, C Shanske, S Gamez, J Teijeira, S Hernandez, I Teijeiro, A Fernandez, JM Musumeci, O DiMauro, S
Citation: R. Fernandez et al., A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease, ARCH NEUROL, 57(2), 2000, pp. 217-219
Intragenic inversion of mtDNA: A new type of pathogenic mutation in a patient with mitochondrial myopathy
Authors: Musumeci, O Andreu, AL Shanske, S Bresolin, N Comi, GP Rothstein, R Schon, EA DiMauro, S
Citation: O. Musumeci et al., Intragenic inversion of mtDNA: A new type of pathogenic mutation in a patient with mitochondrial myopathy, AM J HU GEN, 66(6), 2000, pp. 1900-1904
Polymorphic variants in the human mitochondrial cytochrome b gene
Authors: Andreu, AL Bruno, C Hadjigeorgiou, GM Shanske, S DiMauro, S
Citation: Al. Andreu et al., Polymorphic variants in the human mitochondrial cytochrome b gene, MOL GEN MET, 67(1), 1999, pp. 49-52
Maternally inherited mitochondrial cardiomyopathy associated with a C-to-Ttransition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) gene
Authors: Goldstein, JD Shanske, S Bruno, C Perszyk, AA
Citation: Jd. Goldstein et al., Maternally inherited mitochondrial cardiomyopathy associated with a C-to-Ttransition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) gene, PEDIATR D P, 2(1), 1999, pp. 78-85
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
Authors: Papadopoulou, LC Sue, CM Davidson, MM Tanji, K Nishino, I Sadlock, JE Krishna, S Walker, W Selby, J Glerum, DM Van Coster, R Lyon, G Scalais, E Lebel, R Kaplan, P Shanske, S De Vivo, DC Bonilla, E Hirano, M DiMauro, S Schon, EA
Citation: Lc. Papadopoulou et al., Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene, NAT GENET, 23(3), 1999, pp. 333-337
New mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patientwith McArdle's disease
Authors: Andreu, AL Bruno, C Tamburino, L Gamez, J Shanske, S Cervera, C Navarro, C DiMauro, S
Citation: Al. Andreu et al., New mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patientwith McArdle's disease, NEUROMUSC D, 9(3), 1999, pp. 171-173
A nonsense mutation in the myophosphorylase gene in a Japanese family withMcArdle's disease
Authors: Bruno, C Tamburino, L Kawashima, N Andreu, AL Shanske, S Hadjigeorgiou, GM Kawashima, A DiMauro, S
Citation: C. Bruno et al., A nonsense mutation in the myophosphorylase gene in a Japanese family withMcArdle's disease, NEUROMUSC D, 9(1), 1999, pp. 34-37
A novel mutation in the mitochondrial DNA transfer ribonucleic acid(Asp) gene in a child with myoclonic epilepsy and psychomotor regression
Authors: Shtilbans, A El-Schahawi, M Malkin, E Shanske, S Musumeci, O DiMauro, S
Citation: A. Shtilbans et al., A novel mutation in the mitochondrial DNA transfer ribonucleic acid(Asp) gene in a child with myoclonic epilepsy and psychomotor regression, J CHILD NEU, 14(9), 1999, pp. 610-613
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene
Authors: Andreu, AL Tanji, K Bruno, C Hadjigeorgiou, GM Sue, CM Jay, C Ohnishi, T Shanske, S Bonilla, E DiMauro, S
Citation: Al. Andreu et al., Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene, ANN NEUROL, 45(6), 1999, pp. 820-823
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria
Authors: Andreu, AL Bruno, C Dunne, TC Tanji, K Shanske, S Sue, CM Krishna, S Hadjigeorgiou, GM Shtilbans, A Bonilla, E DiMauro, S
Citation: Al. Andreu et al., A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria, ANN NEUROL, 45(1), 1999, pp. 127-130
Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: Patient report and literature review
Authors: Damore, ME Speiser, PW Slonim, AE New, MI Shanske, S Xia, WL Santorelli, FM DiMauro, S
Citation: Me. Damore et al., Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: Patient report and literature review, J PED END M, 12(2), 1999, pp. 207-213
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA
Authors: White, SL Shanske, S Biros, I Warwick, L Dahl, HM Thorburn, DR Di Mauro, S
Citation: Sl. White et al., Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA, PRENAT DIAG, 19(12), 1999, pp. 1165-1168
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation
Authors: White, SL Shanske, S McGill, JJ Mountain, H Geraghty, MT DiMauro, S Dahl, HHM Thorburn, DR
Citation: Sl. White et al., Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation, J INH MET D, 22(8), 1999, pp. 899-914
Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro
Authors: Pari, G Crerar, MM Nalbantoglu, J Shoubridge, E Jani, A Tsujino, S Shanske, S DiMauro, S Howell, JM Karpati, G
Citation: G. Pari et al., Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro, NEUROLOGY, 53(6), 1999, pp. 1352-1354
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene
Authors: Sue, CM Tanji, K Hadjigeorgiou, G Andreu, AL Nishino, I Krishna, S Bruno, C Hirano, M Shanske, S Bonilla, E Fischel-Ghodsian, N DiMauro, S Friedman, R
Citation: Cm. Sue et al., Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene, NEUROLOGY, 52(9), 1999, pp. 1905-1908
Risultati: 1-25 | 26-34