-
1
-
-
0024657745
-
Human gene for torsion dystonia located on chromosome 9q32-q34
-
L. Ozelius P.L. Kramer C.B. Moskowitz et al. Human gene for torsion dystonia located on chromosome 9q32-q34 Neuron 2 1989 1427-1434
-
(1989)
Neuron
, vol.2
, pp. 1427-1434
-
-
Ozelius, L.1
Kramer, P.L.2
Moskowitz, C.B.3
-
2
-
-
16944366666
-
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
-
L.J. Ozelius J.W. Hewett C.E. Page et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein Nat Genet 17 1997 40-48
-
(1997)
Nat. Genet.
, vol.17
, pp. 40-48
-
-
Ozelius, L.J.1
Hewett, J.W.2
Page, C.E.3
-
3
-
-
0025238901
-
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34
-
P.L. Kramer D. de Leon L. Ozelius et al. Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34 Ann Neurol 27 1990 114-120
-
(1990)
Ann. Neurol.
, vol.27
, pp. 114-120
-
-
Kramer, P.L.1
de Leon, D.2
Ozelius, L.3
-
5
-
-
0347994919
-
Autosomal recessive, DYT2-like primary torsion dystonia: A new family
-
N.L. Khan N.W. Wood K.P. Bhatia Autosomal recessive, DYT2-like primary torsion dystonia: A new family Neurology 61 2003 1801-1803
-
(2003)
Neurology
, vol.61
, pp. 1801-1803
-
-
Khan, N.L.1
Wood, N.W.2
Bhatia, K.P.3
-
6
-
-
0026510550
-
Dystonia-Parkinsonism syndrome (XDP) locus: Flanking markers in Xq12-q21.1
-
K.G. Kupke M.B. Graeber U. Muller Dystonia-Parkinsonism syndrome (XDP) locus: Flanking markers in Xq12-q21.1 Am J Hum Genet 50 1992 808-815
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 808-815
-
-
Kupke, K.G.1
Graeber, M.B.2
Muller, U.3
-
7
-
-
0025121092
-
Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis
-
K.G. Kupke L.V. Lee U. Muller Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis Neurology 40 1990 1438-1442
-
(1990)
Neurology
, vol.40
, pp. 1438-1442
-
-
Kupke, K.G.1
Lee, L.V.2
Muller, U.3
-
8
-
-
0026071238
-
Genetic mapping of 'Lubag' (X-linked dystonia-Parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome
-
K.C. Wilhelmsen D.E. Weeks T.G. Nygaard et al. Genetic mapping of 'Lubag' (X-linked dystonia-Parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome Ann Neurol 29 1991 124-131
-
(1991)
Ann. Neurol.
, vol.29
, pp. 124-131
-
-
Wilhelmsen, K.C.1
Weeks, D.E.2
Nygaard, T.G.3
-
9
-
-
0042337403
-
Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia Parkinsonism
-
D. Nolte S. Niemann U. Muller Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia Parkinsonism Proc Natl Acad Sci USA 100 2003 10347-10352
-
(2003)
Proc. Natl. Acad. Sci. USA
, vol.100
, pp. 10347-10352
-
-
Nolte, D.1
Niemann, S.2
Muller, U.3
-
11
-
-
0028151448
-
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
-
H. Ichinose T. Ohye E. Takahashi et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene Nat Genet 8 1994 236-242
-
(1994)
Nat. Genet.
, vol.8
, pp. 236-242
-
-
Ichinose, H.1
Ohye, T.2
Takahashi, E.3
-
12
-
-
0027377709
-
Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q
-
T.G. Nygaard K.C. Wilhelmsen N.J. Risch et al. Linkage mapping of dopa-responsive dystonia (DRD) to chromosome 14q Nat Genet 5 1993 386-391
-
(1993)
Nat. Genet.
, vol.5
, pp. 386-391
-
-
Nygaard, T.G.1
Wilhelmsen, K.C.2
Risch, N.J.3
-
13
-
-
0028816765
-
A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
-
B. Ludecke B. Dworniczak K. Bartholome A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome Hum Genet 95 1995 123-125
-
(1995)
Hum. Genet.
, vol.95
, pp. 123-125
-
-
Ludecke, B.1
Dworniczak, B.2
Bartholome, K.3
-
14
-
-
0029049876
-
Recessively inherited l-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
-
P.M. Knappskog T. Flatmark J. Mallet B. Ludecke K. Bartholome Recessively inherited l -DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene Hum Mol Genet 4 1995 1209-1212
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1209-1212
-
-
Knappskog, P.M.1
Flatmark, T.2
Mallet, J.3
Ludecke, B.4
Bartholome, K.5
-
15
-
-
0030868892
-
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families
-
L. Almasy S.B. Bressman D. Raymond et al. Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families Ann Neurol 42 1997 670-673
-
(1997)
Ann. Neurol.
, vol.42
, pp. 670-673
-
-
Almasy, L.1
Bressman, S.B.2
Raymond, D.3
-
16
-
-
0032008670
-
Clinical and molecular genetics of primary dystonias
-
U. Muller D. Steinberger A.H. Nemeth Clinical and molecular genetics of primary dystonias Neurogenetics 1 1998 165-177
-
(1998)
Neurogenetics
, vol.1
, pp. 165-177
-
-
Muller, U.1
Steinberger, D.2
Nemeth, A.H.3
-
17
-
-
0029798561
-
Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution
-
B. Leube D. Rudnicki T. Ratzlaff K.R. Kessler R. Benecke G. Auburger Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution Hum Mol Genet 5 1996 1673-1677
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1673-1677
-
-
Leube, B.1
Rudnicki, D.2
Ratzlaff, T.3
Kessler, K.R.4
Benecke, R.5
Auburger, G.6
-
21
-
-
0029937084
-
Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q
-
J.K. Fink S. Rainer J. Wilkowski et al. Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q Am J Hum Genet 59 1996 140-145
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 140-145
-
-
Fink, J.K.1
Rainer, S.2
Wilkowski, J.3
-
22
-
-
3142721995
-
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis
-
S. Rainier D. Thomas D. Tokarz et al. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis Arch Neurol 61 2004 1025-1029
-
(2004)
Arch. Neurol.
, vol.61
, pp. 1025-1029
-
-
Rainier, S.1
Thomas, D.2
Tokarz, D.3
-
23
-
-
0030027095
-
A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2cM between D1S443 and D1S197
-
G. Auburger T. Ratzlaff A. Lunkes et al. 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 1996 90-94
-
(1996)
Genomics
, vol.31
, pp. 90-94
-
-
Auburger, G.1
Ratzlaff, T.2
Lunkes, A.3
-
24
-
-
0033361838
-
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1
-
H. Tomita S. Nagamitsu K. Wakui et al. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1 Am J Hum Genet 65 1999 1688-1697
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1688-1697
-
-
Tomita, H.1
Nagamitsu, S.2
Wakui, K.3
-
25
-
-
17944378309
-
Mutations in the gene encoding e-sarcoglycan cause myoclonus-dystonia syndrome
-
A. Zimprich M. Grabowski F. Asmus et al. Mutations in the gene encoding e-sarcoglycan cause myoclonus-dystonia syndrome Nat Genet 29 2001 66-69
-
(2001)
Nat. Genet.
, vol.29
, pp. 66-69
-
-
Zimprich, A.1
Grabowski, M.2
Asmus, F.3
-
26
-
-
0032705097
-
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31
-
T.G. Nygaard D. Raymond C. Chen et al. Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31 Ann Neurol 46 1999 794-798
-
(1999)
Ann. Neurol.
, vol.46
, pp. 794-798
-
-
Nygaard, T.G.1
Raymond, D.2
Chen, C.3
-
27
-
-
0032854602
-
Rapid-onset dystonia-Parkinsonism: Linkage to chromosome 19q13
-
P.L. Kramer M. Mineta C. Klein et al. Rapid-onset dystonia-Parkinsonism: linkage to chromosome 19q13 Ann Neurol 46 1999 176-182
-
(1999)
Ann. Neurol.
, vol.46
, pp. 176-182
-
-
Kramer, P.L.1
Mineta, M.2
Klein, C.3
-
28
-
-
3242700773
-
Mutations in the Na+/K+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
-
P. de Carvalho Aguiar K.J. Sweadner J.T. Penniston et al. Mutations in the Na+/K+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism Neuron 43 2004 169-175
-
(2004)
Neuron
, vol.43
, pp. 169-175
-
-
de Carvalho Aguiar, P.1
Sweadner, K.J.2
Penniston, J.T.3
-
30
-
-
0035091598
-
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset
-
E.M. Valente A.R. Bentivoglio E. Cassetta et al. DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset Ann Neurol 49 2001 362-366
-
(2001)
Ann. Neurol.
, vol.49
, pp. 362-366
-
-
Valente, E.M.1
Bentivoglio, A.R.2
Cassetta, E.3
-
31
-
-
0037172668
-
Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14
-
H. Grotzsch G.P. Pizzolato J. Ghika et al. Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14 Neurology 58 2002 1839-1842
-
(2002)
Neurology
, vol.58
, pp. 1839-1842
-
-
Grotzsch, H.1
Pizzolato, G.P.2
Ghika, J.3
|