메뉴 건너뛰기




Volumn 5, Issue 10, 1996, Pages 1673-1677

Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 18P; CONTROLLED STUDY; FEMALE; GENE LOCATION; GENE MAPPING; GENETIC LINKAGE; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MOTOR DYSFUNCTION; ONSET AGE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; TELOMERE; TORSION DYSTONIA;

EID: 0029798561     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.10.1673     Document Type: Article
Times cited : (188)

References (29)
  • 1
    • 0023675531 scopus 로고
    • Concept and classification of dystonia
    • Fahn, S. (1988) Concept and classification of dystonia. Adv. Neurol., 50, 1-8.
    • (1988) Adv. Neurol. , vol.50 , pp. 1-8
    • Fahn, S.1
  • 5
    • 0029049876 scopus 로고
    • Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
    • Knappskog, P.M., Flatmark, T., Mallet, J., Lüdecke, B. and Bartholomé, K. (1995) Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum. Mol. Genet., 4, 1209-1212.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1209-1212
    • Knappskog, P.M.1    Flatmark, T.2    Mallet, J.3    Lüdecke, B.4    Bartholomé, K.5
  • 6
    • 0030027095 scopus 로고    scopus 로고
    • A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197
    • Auburger, G., Ratzlaff, T., Lunkes, A., Nelles, H.W., Leube, B., Binkowski, F., Kugel, H., Heindel, W., Seitz, R., Benecke, R., Witte, O.W. and Voit, T. (1996) A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics, 31, 90-94.
    • (1996) Genomics , vol.31 , pp. 90-94
    • Auburger, G.1    Ratzlaff, T.2    Lunkes, A.3    Nelles, H.W.4    Leube, B.5    Binkowski, F.6    Kugel, H.7    Heindel, W.8    Seitz, R.9    Benecke, R.10    Witte, O.W.11    Voit, T.12
  • 7
    • 0001071534 scopus 로고
    • Dominantly inherited myoclonic dystonia with dramatic response to alcohol
    • Quinn, N.P. and Marsden, C.D. (1984) Dominantly inherited myoclonic dystonia with dramatic response to alcohol. Neurology, 34, 236-236.
    • (1984) Neurology , vol.34 , pp. 236-236
    • Quinn, N.P.1    Marsden, C.D.2
  • 8
    • 0014109480 scopus 로고
    • Paroxysmal kinesiogenic choreo-athetosis
    • Kertez, A. (1967) Paroxysmal kinesiogenic choreo-athetosis. Neurology, 17, 680-690.
    • (1967) Neurology , vol.17 , pp. 680-690
    • Kertez, A.1
  • 13
    • 0027494629 scopus 로고
    • Adult onset familial cervical dystonia: Report of a family including monozygotic twins
    • Uitti, R.J. and Maraganore, D.M. (1993) Adult onset familial cervical dystonia: report of a family including monozygotic twins. Movement Disord., 8, 489-494.
    • (1993) Movement Disord. , vol.8 , pp. 489-494
    • Uitti, R.J.1    Maraganore, D.M.2
  • 15
    • 0029052823 scopus 로고
    • A genetic study of idiopathic focal dystonias
    • Stojanovic, M., Cvetkovic, D. and Kostic, V.S. (1995) A genetic study of idiopathic focal dystonias. J. Neurol., 242, 508-511.
    • (1995) J. Neurol. , vol.242 , pp. 508-511
    • Stojanovic, M.1    Cvetkovic, D.2    Kostic, V.S.3
  • 16
    • 0027482096 scopus 로고
    • Genetic contribution to idiopathic adult-onset blepharospasm and cranial-cervical dystonia
    • Defazio, G., Livrea, P., Guanti, G., Lepore, V. and Ferrari, E. (1993) Genetic contribution to idiopathic adult-onset blepharospasm and cranial-cervical dystonia. Eur. Neurol., 33, 345-350.
    • (1993) Eur. Neurol. , vol.33 , pp. 345-350
    • Defazio, G.1    Livrea, P.2    Guanti, G.3    Lepore, V.4    Ferrari, E.5
  • 17
    • 0023674353 scopus 로고
    • Blepharospasm and cranial-cervical dystonia (Meige's syndrome): Familial occurrence
    • Jankovic, J. and Nutt, J.G. (1988) Blepharospasm and cranial-cervical dystonia (Meige's syndrome): familial occurrence. Adv. Neurol., 49, 117-123.
    • (1988) Adv. Neurol. , vol.49 , pp. 117-123
    • Jankovic, J.1    Nutt, J.G.2
  • 18
  • 19
    • 0026021079 scopus 로고
    • DOPA-responsive dystonia: Long-term treatment response and prognosis
    • Nygaard, T.G., Marsden, C. D. and Fahn, S. (1991) DOPA-responsive dystonia: long-term treatment response and prognosis. Neurology, 41, 174-181.
    • (1991) Neurology , vol.41 , pp. 174-181
    • Nygaard, T.G.1    Marsden, C.D.2    Fahn, S.3
  • 20
    • 0028029401 scopus 로고
    • 18p-syndrome with bilateral pyramidal tract signs, dystonia of the lower extremities and concentric visual field defects
    • Kakinuma, S., Sasabe, F., Negoro, K., Nogaki, H. and Morimatsu, M. (1994) 18p-syndrome with bilateral pyramidal tract signs, dystonia of the lower extremities and concentric visual field defects. Clin. Neurol., 34, 474-478.
    • (1994) Clin. Neurol. , vol.34 , pp. 474-478
    • Kakinuma, S.1    Sasabe, F.2    Negoro, K.3    Nogaki, H.4    Morimatsu, M.5
  • 23
    • 0025289776 scopus 로고
    • A biological role of the carbohydrate moieties of laminin
    • Dean, J.W., Chandrasekaran, S. and Tanzer, M.L. (1990) A biological role of the carbohydrate moieties of laminin. J. Biol. Chem., 265, 12553-12562.
    • (1990) J. Biol. Chem. , vol.265 , pp. 12553-12562
    • Dean, J.W.1    Chandrasekaran, S.2    Tanzer, M.L.3
  • 24
    • 0024761697 scopus 로고
    • Human laminin A chain (LAMA) gene: Chromosomal mapping to locus 18q11.3
    • Nagayoshi, T., Mattei, M.G., Passage, E., Knowlton, R., Chu, M.L. and Uitto, J. (1989) Human laminin A chain (LAMA) gene: chromosomal mapping to locus 18q11.3. Genomics, 5, 932-935.
    • (1989) Genomics , vol.5 , pp. 932-935
    • Nagayoshi, T.1    Mattei, M.G.2    Passage, E.3    Knowlton, R.4    Chu, M.L.5    Uitto, J.6
  • 28
    • 0003408936 scopus 로고
    • Johns Hopkins University Press, Baltimore, 2nd edn.
    • Ott, J. (1991) Analysis of Human Genetic Linkage. Johns Hopkins University Press, Baltimore, 2nd edn., pp. 232-235.
    • (1991) Analysis of Human Genetic Linkage , pp. 232-235
    • Ott, J.1
  • 29
    • 0025240674 scopus 로고
    • A genetic study of idiopathic torsion dystonia in the United Kingdom
    • Fletcher, N.A., Harding, A.E. and Marsden, C.E. (1990) A genetic study of idiopathic torsion dystonia in the United Kingdom. Brain, 113, 379-395.
    • (1990) Brain , vol.113 , pp. 379-395
    • Fletcher, N.A.1    Harding, A.E.2    Marsden, C.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.