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Results: 1-8 |
Results: 8
Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex
Authors: Lynch, T Sano, M Marder, KS Bell, KL Foster, NL Defendini, RF Sima, AAF Keohane, C Nygaard, TG Fahn, S Mayeux, R Rowland, LP Wilhelmsen, KC
Citation: T. Lynch et al., Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex, NEUROLOGY, 57(10), 2001, pp. S39-S45
Response to levodopa treatment in dopa-responsive dystonia
Authors: Nutt, JG Nygaard, TG
Citation: Jg. Nutt et Tg. Nygaard, Response to levodopa treatment in dopa-responsive dystonia, ARCH NEUROL, 58(6), 2001, pp. 905-910
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
Authors: Nishino, I Spinazzola, A Papadimitriou, A Hammans, S Steiner, I Hahn, CD Connolly, AM Verloes, A Guimaraes, J Maillard, I Hamano, H Donati, MA Semrad, CE Russell, JA Andreu, AL Hadjigeorgiou, GM Vu, TH Tadesse, S Nygaard, TG Nonaka, I Hirano, I Bonilla, E Rowland, LP DiMauro, S Hirano, M
Citation: I. Nishino et al., Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations, ANN NEUROL, 47(6), 2000, pp. 792-800
Gaucher disease: The origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations
Authors: Diaz, GA Gelb, BD Risch, N Nygaard, TG Frisch, A Cohen, IJ Miranda, CS Amaral, O Maire, I Poenaru, L Caillaud, C Weizberg, M Mistry, P Desnick, RJ
Citation: Ga. Diaz et al., Gaucher disease: The origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations, AM J HU GEN, 66(6), 2000, pp. 1821-1832
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31
Authors: Nygaard, TG Raymond, D Chen, CP Nishino, I Greene, PE Jennings, D Heiman, GA Klein, C Saunders-Pullman, RJ Kramer, P Ozelius, LJ Bressman, SB
Citation: Tg. Nygaard et al., Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31, ANN NEUROL, 46(5), 1999, pp. 794-798
Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency
Authors: Hyland, K Nygaard, TG Trugman, JM Swoboda, KJ Arnold, LA Sparagana, SP
Citation: K. Hyland et al., Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency, J INH MET D, 22(3), 1999, pp. 213-215
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia
Authors: Furukawa, Y Nygaard, TG Gutlich, M Rajput, AH Pifl, C DiStefano, L Chang, LJ Price, K Shimadzu, M Hornykiewicz, O Haycock, JW Kish, SJ
Citation: Y. Furukawa et al., Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia, NEUROLOGY, 53(5), 1999, pp. 1032-1041
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
Risultati: 1-8 |