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Results: 1-20 |
Results: 20
Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm
Authors: Santos, MM Ohshima, K Pandolfo, M
Citation: Mm. Santos et al., Frataxin deficiency enhances apoptosis in cells differentiating into neuroectoderm, HUM MOL GEN, 10(18), 2001, pp. 1935-1944
Molecular basis of Friedreich ataxia
Authors: Pandolfo, M
Citation: M. Pandolfo, Molecular basis of Friedreich ataxia, MOVEMENT D, 16(5), 2001, pp. 815-821
Unverricht-Lundborg disease in a five-generation Arab family - Instabilityof dodecamer repeats
Authors: Mazarib, A Xiong, L Neufeld, MY Birnbaum, M Korczyn, AD Pandolfo, M Berkovic, SF
Citation: A. Mazarib et al., Unverricht-Lundborg disease in a five-generation Arab family - Instabilityof dodecamer repeats, NEUROLOGY, 57(6), 2001, pp. 1050-1054
Sticky DNA, a self-associated complex formed at long GAA center dot TTC repeats in intron 1 of the frataxin gene, inhibits transcriptions
Authors: Sakamoto, N Ohshima, K Montermini, L Pandolfo, M Wells, RD
Citation: N. Sakamoto et al., Sticky DNA, a self-associated complex formed at long GAA center dot TTC repeats in intron 1 of the frataxin gene, inhibits transcriptions, J BIOL CHEM, 276(29), 2001, pp. 27171-27177
GGA center dot TCC-interrupted triplets in long GAA center dot TTC repeatsinhibit the formation of tripler and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities
Authors: Sakamoto, N Larson, JE Iyer, RR Montermini, L Pandolfo, M Wells, RD
Citation: N. Sakamoto et al., GGA center dot TCC-interrupted triplets in long GAA center dot TTC repeatsinhibit the formation of tripler and sticky DNA structures, alleviate transcription inhibition, and reduce genetic instabilities, J BIOL CHEM, 276(29), 2001, pp. 27178-27187
Manganese superoxide dismutase induction by iron is impaired in Friedreichataxia cells
Authors: Jiralerspong, S Ge, B Hudson, TJ Pandolfo, M
Citation: S. Jiralerspong et al., Manganese superoxide dismutase induction by iron is impaired in Friedreichataxia cells, FEBS LETTER, 509(1), 2001, pp. 101-105
Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type-1
Authors: Ross, BM Eder, K Moszczynska, A Mamalias, N Lamarche, J Ang, L Pandolfo, M Rouleau, G Kirchgessner, M Kish, SJ
Citation: Bm. Ross et al., Abnormal activity of membrane phospholipid synthetic enzymes in the brain of patients with Friedreich's ataxia and spinocerebellar atrophy type-1, MOVEMENT D, 15(2), 2000, pp. 294-300
Increased levels of plasma malondialdehyde in Friedreich ataxia
Authors: Emond, M Lepage, G Vanasse, M Pandolfo, M
Citation: M. Emond et al., Increased levels of plasma malondialdehyde in Friedreich ataxia, NEUROLOGY, 55(11), 2000, pp. 1752-1753
Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion
Authors: Labuda, M Labuda, D Miranda, C Poirier, J Soong, BW Barucha, NE Pandolfo, M
Citation: M. Labuda et al., Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion, NEUROLOGY, 54(12), 2000, pp. 2322-2324
Sticky DNA: Self-association properties of long GAA center dot TTC repeatsin R center dot R center dot Y triplex structures from Friedreich's ataxia
Authors: Sakamoto, N Chastain, PD Parniewski, P Ohshima, K Pandolfo, M Griffith, JD Wells, RD
Citation: N. Sakamoto et al., Sticky DNA: Self-association properties of long GAA center dot TTC repeatsin R center dot R center dot Y triplex structures from Friedreich's ataxia, MOL CELL, 3(4), 1999, pp. 465-475
Heteroduplexes may confuse the interpretation of PCR-based molecular testsfor the Friedreich ataxia GAA triplet repeat
Authors: Poirier, J Ohshima, K Pandolfo, M
Citation: J. Poirier et al., Heteroduplexes may confuse the interpretation of PCR-based molecular testsfor the Friedreich ataxia GAA triplet repeat, HUM MUTAT, 13(4), 1999, pp. 328-330
Friedreich's ataxia: Point mutations and clinical presentation of compoundheterozygotes
Authors: Cossee, M Durr, A Schmitt, M Dahl, N Trouillas, P Allinson, P Kostrzewa, M Nivelon-Chevallier, A Gustavson, KH Kohlschutter, A Muller, U Mandel, JL Brice, A Koenig, M Cavalcanti, F Tammaro, A De Michele, G Filla, A Cocozza, S Labuda, M Montermini, L Poirier, J Pandolfo, M
Citation: M. Cossee et al., Friedreich's ataxia: Point mutations and clinical presentation of compoundheterozygotes, ANN NEUROL, 45(2), 1999, pp. 200-206
Friedreich's ataxia: Clinical aspects and pathogenesis
Authors: Pandolfo, M
Citation: M. Pandolfo, Friedreich's ataxia: Clinical aspects and pathogenesis, SEM NEUROL, 19(3), 1999, pp. 311-321
A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis
Authors: Ohshima, K Sakamoto, N Labuda, M Poirier, J Moseley, ML Montermini, L Ranum, LPW Wells, RD Pandolfo, M
Citation: K. Ohshima et al., A nonpathogenic GAAGGA repeat in the Friedreich gene: Implications for pathogenesis, NEUROLOGY, 53(8), 1999, pp. 1854-1857
Decreased brain protein levels of cytochrome oxidase subunits in Alzheimer's disease and in hereditary spinocerebellar ataxia disorders: A nonspecific change?
Authors: Kish, SJ Mastrogiacomo, F Guttman, H Furukawa, Y Taanman, JW Dozic, S Pandolfo, M Lamarche, J DiStefano, L Chang, LJ
Citation: Sj. Kish et al., Decreased brain protein levels of cytochrome oxidase subunits in Alzheimer's disease and in hereditary spinocerebellar ataxia disorders: A nonspecific change?, J NEUROCHEM, 72(2), 1999, pp. 700-707
Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants
Authors: Li, DS Ohshima, K Jiralerspong, S Bojanowski, MW Pandolfo, M
Citation: Ds. Li et al., Knock-out of the cyaY gene in Escherichia coli does not affect cellular iron content and sensitivity to oxidants, FEBS LETTER, 456(1), 1999, pp. 13-16
Molecular pathogenesis of Friedreich ataxia
Authors: Pandolfo, M
Citation: M. Pandolfo, Molecular pathogenesis of Friedreich ataxia, ARCH NEUROL, 56(10), 1999, pp. 1201-1208
Mapping of a gene determining familiar partial epilepsy with variable focito chromosome 22q11-q12
Authors: Xiong, L Labuda, M Li, DS Hudson, TJ Desbiens, R Patry, G Verret, S Langevin, P Mercho, S Seni, MH Scheffer, I Dubeau, F Berkovic, SF Andermann, F Andermann, E Pandolfo, M
Citation: L. Xiong et al., Mapping of a gene determining familiar partial epilepsy with variable focito chromosome 22q11-q12, AM J HU GEN, 65(6), 1999, pp. 1698-1710
Molecular genetics of the hereditary ataxias
Authors: Pandolfo, M Montermini, L
Citation: M. Pandolfo et L. Montermini, Molecular genetics of the hereditary ataxias, ADV GENETIC, 38, 1998, pp. 31-68
Incidence of dominant spinocerebellar and Friedreich triplet repeats among361 ataxia families
Authors: Moseley, ML Benzow, KA Schut, LJ Bird, TD Gomez, CM Barkhaus, PE Blindauer, KA Labuda, M Pandolfo, M Koob, MD Ranum, LPW
Citation: Ml. Moseley et al., Incidence of dominant spinocerebellar and Friedreich triplet repeats among361 ataxia families, NEUROLOGY, 51(6), 1998, pp. 1666-1671
Risultati: 1-20 |