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Results: 1 to 20 of 47

PubMed (OMIM) for MedGen (Select 338823)

1.

Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation.

Asanuma K, Ma Y, Okulski J, Dhawan V, Chaly T, Carbon M, Bressman SB, Eidelberg D.

Neurology. 2005 Jan 25;64(2):347-9.

PMID:
15668438
2.

Brainstem pathology in DYT1 primary torsion dystonia.

McNaught KS, Kapustin A, Jackson T, Jengelley TA, Jnobaptiste R, Shashidharan P, Perl DP, Pasik P, Olanow CW.

Ann Neurol. 2004 Oct;56(4):540-7. Erratum in: Ann Neurol. 2004 Nov;56(5):750.

PMID:
15455404
3.

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers.

Heiman GA, Ottman R, Saunders-Pullman RJ, Ozelius LJ, Risch NJ, Bressman SB.

Neurology. 2004 Aug 24;63(4):631-7.

PMID:
15326234
4.

Microstructural white matter changes in carriers of the DYT1 gene mutation.

Carbon M, Kingsley PB, Su S, Smith GS, Spetsieris P, Bressman S, Eidelberg D.

Ann Neurol. 2004 Aug;56(2):283-6.

PMID:
15293281
5.

Regional metabolism in primary torsion dystonia: effects of penetrance and genotype.

Carbon M, Su S, Dhawan V, Raymond D, Bressman S, Eidelberg D.

Neurology. 2004 Apr 27;62(8):1384-90.

PMID:
15111678
6.

Idiopathic dystonia musculorum deformans. II. The formes frustes.

ZEMAN W, KAELBLING R, PASAMANICK B.

Neurology. 1960 Dec;10:1068-75. No abstract available.

PMID:
13788192
7.

Idiopathic dystonia musculorum deformans. I. The hereditary pattern.

ZEMAN W, KAELBLING R, PASAMANICK B, JENKINS JT.

Am J Hum Genet. 1959 Jun;11(2 Part 1):188-202. No abstract available.

8.

Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.

Grundmann K, Laubis-Herrmann U, Bauer I, Dressler D, Vollmer-Haase J, Bauer P, Stuhrmann M, Schulte T, Schöls L, Topka H, Riess O.

Arch Neurol. 2003 Sep;60(9):1266-70.

PMID:
12975293
9.

Impaired sequence learning in carriers of the DYT1 dystonia mutation.

Ghilardi MF, Carbon M, Silvestri G, Dhawan V, Tagliati M, Bressman S, Ghez C, Eidelberg D.

Ann Neurol. 2003 Jul;54(1):102-9.

PMID:
12838525
10.

Diagnostic criteria for dystonia in DYT1 families.

Bressman SB, Raymond D, Wendt K, Saunders-Pullman R, De Leon D, Fahn S, Ozelius L, Risch N.

Neurology. 2002 Dec 10;59(11):1780-2.

PMID:
12473770
11.

Inherited and de novo mutations in sporadic cases of DYT1-dystonia.

Hjermind LE, Werdelin LM, Sørensen SA.

Eur J Hum Genet. 2002 Mar;10(3):213-6.

12.

The genetics of primary dystonias and related disorders.

Németh AH.

Brain. 2002 Apr;125(Pt 4):695-721. Review.

14.

Clinical and molecular genetics of primary dystonias.

Müller U, Steinberger D, Németh AH.

Neurogenetics. 1998 Mar;1(3):165-77. Review.

PMID:
10737119
15.

A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation.

Ikeuchi T, Shimohata T, Nakano R, Koide R, Takano H, Tsuji S.

Neurogenetics. 1999 Sep;2(3):189-90. No abstract available.

PMID:
10541594
16.

GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.

Kamm C, Castelon-Konkiewitz E, Naumann M, Heinen F, Brack M, Nebe A, Ceballos-Baumann A, Gasser T.

Mov Disord. 1999 Jul;14(4):681-3.

PMID:
10435508
17.

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO.

Nat Genet. 1997 Sep;17(1):40-8.

PMID:
9288096
18.

Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium.

Ozelius LJ, Hewett J, Kramer P, Bressman SB, Shalish C, de Leon D, Rutter M, Risch N, Brin MF, Markova ED, Limborska SA, Ivanova-Smolenskaya IA, McCormick MK, Fahn S, Buckler AJ, Gusella JF, Breakefield XO.

Genome Res. 1997 May;7(5):483-94.

19.

Clinical evidence of genetic anticipation in adult-onset idiopathic dystonia.

Cheng JT, Liu A, Wasmuth J, Liu BP, Truong D.

Neurology. 1996 Jul;47(1):215-9.

PMID:
8710081
20.

Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia.

Gasser T, Bove CM, Ozelius LJ, Hallett M, Charness ME, Hochberg FH, Breakefield XO.

Mov Disord. 1996 Mar;11(2):163-6.

PMID:
8684386
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