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Results: 1-11 |
Results: 11
Saturating density of STSs (1/6 kb) in a 1.1 Mb region on 3q28-q29: a valuable resource for cloning of disease genes
Authors: Alexander, C Bernstein, SL Rocchi, M Auburger, G
Citation: C. Alexander et al., Saturating density of STSs (1/6 kb) in a 1.1 Mb region on 3q28-q29: a valuable resource for cloning of disease genes, EUR J HUM G, 9(4), 2001, pp. 307-310
Neurodegeneration in the polyglutamine diseases: Act 1, Scene 1
Authors: Nussbaum, R Auburger, G
Citation: R. Nussbaum et G. Auburger, Neurodegeneration in the polyglutamine diseases: Act 1, Scene 1, NAT NEUROSC, 3(2), 2000, pp. 103-104
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
Authors: Alexander, C Votruba, M Pesch, UEA Thiselton, DL Mayer, S Moore, A Rodriguez, M Kellner, U Leo-Kottler, B Auburger, G Bhattacharya, SS Wissinger, B
Citation: C. Alexander et al., OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28, NAT GENET, 26(2), 2000, pp. 211-215
Primary torsion dystonia: the search for genes is not over
Authors: Jarman, PR del Grosso, N Valente, EM Leube, B Cassetta, E Bentivoglio, AR Waddy, HM Uitti, RJ Maraganore, DM Albanese, A Frontali, M Auburger, G Bressman, SB Wood, NW Nygaard, TG
Citation: Pr. Jarman et al., Primary torsion dystonia: the search for genes is not over, J NE NE PSY, 67(3), 1999, pp. 395-397
Identification of the physiological promoter for spinocerebellar ataxia 2 gene reveals a CpG island for promoter activity situated into the exon 1 ofthis gene and provides data about the origin of the nonmethylated state ofthese types of islands
Authors: Aguiar, J Santurlidis, S Nowok, J Alexander, C Rudnicki, D Gispert, S Schulz, W Auburger, G
Citation: J. Aguiar et al., Identification of the physiological promoter for spinocerebellar ataxia 2 gene reveals a CpG island for promoter activity situated into the exon 1 ofthis gene and provides data about the origin of the nonmethylated state ofthese types of islands, BIOC BIOP R, 254(2), 1999, pp. 315-318
Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies
Authors: Estrada, R Galarraga, J Orozco, G Nodarse, A Auburger, G
Citation: R. Estrada et al., Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies, ACT NEUROP, 97(3), 1999, pp. 306-310
Phenotypic variability of the DYT1 mutation in German dystonia patients
Authors: Leube, B Kessler, KR Ferbert, A Ebke, M Schwendemann, G Erbguth, F Benecke, R Auburger, G
Citation: B. Leube et al., Phenotypic variability of the DYT1 mutation in German dystonia patients, ACT NEUR SC, 99(4), 1999, pp. 248-251
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q
Authors: Paternotte, C Rudnicki, D Fizames, C Davoine, CS Mavel, D Durr, A Samson, D Marquette, C Muselet, D Vega-Czarny, N Drouot, N Voit, T Fontaine, B Gyapay, G Auburger, G Weissenbach, J Hazan, J
Citation: C. Paternotte et al., Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q, GENOME RES, 8(11), 1998, pp. 1216-1227
His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype
Authors: Duc, HH Hefter, H Stremmel, W Castaneda-Guillot, C Hernandez, AH Cox, DW Auburger, G
Citation: Hh. Duc et al., His1069Gln and six novel Wilson disease mutations: analysis of relevance for early diagnosis and phenotype, EUR J HUM G, 6(6), 1998, pp. 616-623
Questionable role of adult-onset focal dystonia among sporadic dystonia patients
Authors: Leube, B Auburger, G
Citation: B. Leube et G. Auburger, Questionable role of adult-onset focal dystonia among sporadic dystonia patients, ANN NEUROL, 44(6), 1998, pp. 984-985
Defects of mitochondrial respiratory chain in multiple symmetric lipomatosis
Authors: Becker-Wegerich, P Steuber, M Olbrisch, R Ruzicka, T Auburger, G Hofhaus, G
Citation: P. Becker-wegerich et al., Defects of mitochondrial respiratory chain in multiple symmetric lipomatosis, ARCH DERM R, 290(12), 1998, pp. 652-655
Risultati: 1-11 |