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Results: 1-17 |
Results: 17
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
Mitochondrial respiratory chain diseases and mutations in nuclear DNA: A promising start?
Authors: Sue, CM Schon, EA
Citation: Cm. Sue et Ea. Schon, Mitochondrial respiratory chain diseases and mutations in nuclear DNA: A promising start?, BRAIN PATH, 10(3), 2000, pp. 442-450
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
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
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
Paroxysmal word deafness secondary to focal epilepsy
Authors: Fung, VSC Sue, CM Somerville, ER
Citation: Vsc. Fung et al., Paroxysmal word deafness secondary to focal epilepsy, NEUROLOGY, 54(2), 2000, pp. 533-534
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
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
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
Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM
Authors: Friend, KL Crimmins, D Phan, TG Sue, CM Colley, A Fung, VSC Morris, JGL Sutherland, GR Richards, RI
Citation: Kl. Friend et al., Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM, HUM GENET, 105(3), 1999, pp. 261-265
Maternally inherited nonsyndromic hearing loss
Authors: Friedman, RA Bykhovskaya, Y Sue, CM DiMauro, S Bradley, R Fallis-Cunningham, R Paradies, N Pensak, ML Smith, RJ Groden, J Li, XYC Fischel-Ghodsian, N
Citation: Ra. Friedman et al., Maternally inherited nonsyndromic hearing loss, AM J MED G, 84(4), 1999, pp. 369-372
Neonatal presentations of mitochondrial metabolic disorders
Authors: Sue, CM Hirano, M DiMauro, S De Vivo, DC
Citation: Cm. Sue et al., Neonatal presentations of mitochondrial metabolic disorders, SEM PERINAT, 23(2), 1999, pp. 113-124
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
Infantile encephalopathy associated with the MELAS A3243G mutation
Authors: Sue, CM Bruno, C Andreu, AL Cargan, A Mendell, JR Tsao, CY Luquette, M Paolicchi, J Shanske, S DiMauro, S De Vivo, DC
Citation: Cm. Sue et al., Infantile encephalopathy associated with the MELAS A3243G mutation, J PEDIAT, 134(6), 1999, pp. 696-700
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV
Authors: Bruno, C Martinuzzi, A Tang, YY Andreu, AL Pallotti, F Bonilla, E Shanske, S Fu, J Sue, CM Angelini, C DiMauro, S Manfredi, G
Citation: C. Bruno et al., A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV, AM J HU GEN, 65(3), 1999, pp. 611-620
Detection of MELAS A3243G point mutation in muscle, blood and hair follicles
Authors: Sue, CM Quigley, A Katsabanis, S Kapsa, R Crimmins, DS Byrne, E Morris, JGL
Citation: Cm. Sue et al., Detection of MELAS A3243G point mutation in muscle, blood and hair follicles, J NEUR SCI, 161(1), 1998, pp. 36-39
Risultati: 1-17 |