Sporadic cases of possible genetic diseases - To test or not to test?

被引：4

作者：

Bird, TD ^{[1
]}

机构：

[1] Univ Washington, Vet Affairs Med Ctr, Geriatr Res Serv, Seattle, WA 98108 USA

来源：

ARCHIVES OF NEUROLOGY | 2000年 / 57卷 / 03期

关键词：

D O I：

10.1001/archneur.57.3.309

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：309 / 310

页数：2

共 7 条

[1] Frequency of the DYT1 mutation in primary torsion dystonia without family history [J].

Brassat, D ;

Camuzat, A ;

Vidailhet, M ;

Feki, I ;

Jedynak, P ;

Klap, P ;

Agid, Y ;

Dürr, A ;

Brice, A .

ARCHIVES OF NEUROLOGY, 2000, 57 (03) :333-335

[2] Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population based study of presenile Alzheimer disease [J].

Cruts, M ;

van Duijn, CM ;

Backhovens, H ;

Van den Broeck, M ;

Wehnert, A ;

Serneels, S ;

Sherrington, R ;

Hutton, M ;

Hardy, J ;

St George-Hyslop, PH ;

Hofman, A ;

Van Broeckhoven, C .

HUMAN MOLECULAR GENETICS, 1998, 7 (01) :43-51

[3] Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset [J].

Gasser, T ;

Windgassen, K ;

Bereznai, B ;

Kabus, C ;

Ludolph, AC .

ANNALS OF NEUROLOGY, 1998, 44 (01) :126-128

[4] IDENTIFICATION OF A NOVEL SOD1 MUTATION IN AN APPARENTLY SPORADIC AMYOTROPHIC-LATERAL-SCLEROSIS PATIENT AND THE DETECTION OF ILE113THR IN 3 OTHERS [J].

JONES, CT ;

SWINGLER, RJ ;

BROCK, DJH .

HUMAN MOLECULAR GENETICS, 1994, 3 (04) :649-650

[5] Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families [J].

Moseley, ML ;

Benzow, KA ;

Schut, LJ ;

Bird, TD ;

Gomez, CM ;

Barkhaus, PE ;

Blindauer, KA ;

Labuda, M ;

Pandolfo, M ;

Koob, MD ;

Ranum, LPW .

NEUROLOGY, 1998, 51 (06) :1666-1671

[6] Diagnosis of patients presenting to a Huntington disease (HD) clinic without a family history of HD [J].

Nance, MA ;

Westphal, B ;

Nugent, S .

NEUROLOGY, 1996, 47 (06) :1578-1580

[7]

Nelis E, 1996, EUR J HUM GENET, V4, P25

← 1 →