Trugman JM - Search Results

1

Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene.

Furukawa Y, Guttman M, Sparagana SP, Trugman JM, Hyland K, Wyatt P, Lang AE, Rouleau GA, Shimadzu M, Kish SJ. Furukawa Y, et al. Among authors: trugman jm. Ann Neurol. 2000 Apr;47(4):517-20. Ann Neurol. 2000. PMID: 10762165

2

Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia.

Furukawa Y, Lang AE, Trugman JM, Bird TD, Hunter A, Sadeh M, Tagawa T, St George-Hyslop PH, Guttman M, Morris LW, Hornykiewicz O, Shimadzu M, Kish SJ. Furukawa Y, et al. Among authors: trugman jm. Neurology. 1998 Apr;50(4):1015-20. doi: 10.1212/wnl.50.4.1015. Neurology. 1998. PMID: 9566388

3

Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.

Furukawa Y, Kish SJ, Bebin EM, Jacobson RD, Fryburg JS, Wilson WG, Shimadzu M, Hyland K, Trugman JM. Furukawa Y, et al. Among authors: trugman jm. Ann Neurol. 1998 Jul;44(1):10-6. doi: 10.1002/ana.410440107. Ann Neurol. 1998. PMID: 9667588

4

Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test.

Hyland K, Fryburg JS, Wilson WG, Bebin EM, Arnold LA, Gunasekera RS, Jacobson RD, Rost-Ruffner E, Trugman JM. Hyland K, et al. Among authors: trugman jm. Neurology. 1997 May;48(5):1290-7. doi: 10.1212/wnl.48.5.1290. Neurology. 1997. PMID: 9153460

5

Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.

Hyland K, Nygaard TG, Trugman JM, Swoboda KJ, Arnold LA, Sparagana SP. Hyland K, et al. Among authors: trugman jm. J Inherit Metab Dis. 1999 May;22(3):213-5. doi: 10.1023/a:1005532610051. J Inherit Metab Dis. 1999. PMID: 10384370 No abstract available.

6

Defects of biopterin metabolism and biogenic amine biosynthesis: clinical diagnostic, and therapeutic aspects.

Hyland K, Arnold LA, Trugman JM. Hyland K, et al. Among authors: trugman jm. Adv Neurol. 1998;78:301-8. Adv Neurol. 1998. PMID: 9750926 Review. No abstract available.

7

Dopa-responsive dystonia: the spectrum of clinical manifestations in a large North American family.

Nygaard TG, Trugman JM, de Yebenes JG, Fahn S. Nygaard TG, et al. Among authors: trugman jm. Neurology. 1990 Jan;40(1):66-9. doi: 10.1212/wnl.40.1.66. Neurology. 1990. PMID: 2296384

8

Early morning dystonia in Parkinson's disease.

Currie LJ, Harrison MB, Trugman JM, Bennett JP Jr, Wooten GF. Currie LJ, et al. Among authors: trugman jm. Neurology. 1998 Jul;51(1):283-5. doi: 10.1212/wnl.51.1.283. Neurology. 1998. PMID: 9674823

9

Fatigue in levodopa-naive subjects with Parkinson disease.

Schifitto G, Friedman JH, Oakes D, Shulman L, Comella CL, Marek K, Fahn S; Parkinson Study Group ELLDOPA Investigators. Schifitto G, et al. Neurology. 2008 Aug 12;71(7):481-5. doi: 10.1212/01.wnl.0000324862.29733.69. Neurology. 2008. PMID: 18695158 Free PMC article. Clinical Trial.

10

Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q.

Nygaard TG, Wilhelmsen KC, Risch NJ, Brown DL, Trugman JM, Gilliam TC, Fahn S, Weeks DE. Nygaard TG, et al. Among authors: trugman jm. Nat Genet. 1993 Dec;5(4):386-91. doi: 10.1038/ng1293-386. Nat Genet. 1993. PMID: 8298648

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