-
1
-
-
0030868892
-
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families
-
ALMASY, L., BRESSMAN, S.B., RAYMOND, D., KRAMER, P.L., GREENE, P.E., HEIMAN, G.A., FORD, B., YOUNT, J., DE LEON, D., CHOUINARD, S., SAUNDERS-PULLMAN, R., BRIN, M.F., KAPOOR, R.P., JONES, A.C., SHEN, H., FAHN, S., RISCH, N.J., and NYGAARD, T.G. (1997). Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann. Neurol. 42, 670-673.
-
(1997)
Ann. Neurol.
, vol.42
, pp. 670-673
-
-
Almasy, L.1
Bressman, S.B.2
Raymond, D.3
Kramer, P.L.4
Greene, P.E.5
Heiman, G.A.6
Ford, B.7
Yount, J.8
De Leon, D.9
Chouinard, S.10
Saunders-Pullman, R.11
Brin, M.F.12
Kapoor, R.P.13
Jones, A.C.14
Shen, H.15
Fahn, S.16
Risch, N.J.17
Nygaard, T.G.18
-
2
-
-
0028872836
-
Points to consider: Ethical, legal and psychosocial implications of genetic test~ ing in children and adolescents
-
AMERICAN SOCIETY OF HUMAN GENETICS. (1995). Points to consider: Ethical, legal and psychosocial implications of genetic test~ ing in children and adolescents. Am. J. Hum. Genet. 57, 1233-1241.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1233-1241
-
-
-
3
-
-
0028012369
-
A device for processing large acrylamide gels
-
BENDER, B., WIESTLER, O.D., and V. DEIMLING, A. (1994). A device for processing large acrylamide gels. Biotechniques 16, 204-206.
-
(1994)
Biotechniques
, vol.16
, pp. 204-206
-
-
Bender, B.1
Wiestler, O.D.2
V. Deimling, A.3
-
4
-
-
0029081010
-
Why do DNA testing? Practical and ethical implications of new neurogenetic tests
-
BIRD, T.D., and BENNETT, R.L. (1995). Why do DNA testing? Practical and ethical implications of new neurogenetic tests. Ann. Neurol. 38, 141-146.
-
(1995)
Ann. Neurol.
, vol.38
, pp. 141-146
-
-
Bird, T.D.1
Bennett, R.L.2
-
5
-
-
0024457283
-
Idiopathic dystonia among Ashkenazi Jews: Evidence for autosomal dominant inheritance
-
BRESSMAN, S.B., DE LEON, D., BRIN, M.F.; RISCH, N., BURKE, R.E., GREENE, P.E., SHALE, H., and FAHN, S. (1989). Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann. Neurol. 26, 612-620.
-
(1989)
Ann. Neurol.
, vol.26
, pp. 612-620
-
-
Bressman, S.B.1
De Leon, D.2
Brin, M.F.3
Risch, N.4
Burke, R.E.5
Greene, P.E.6
Shale, H.7
Fahn, S.8
-
6
-
-
0027988344
-
Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation
-
BRESSMAN, S.B., DE LEON, D., KRAMER, P.L., OZELIUS, L.J., BRIN, M.F., GREENE, P.E., FAHN, S., BREAKEFIELD, X.O., and RISCH, N.J. (1994). Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann. Neurol. 36, 771-777.
-
(1994)
Ann. Neurol.
, vol.36
, pp. 771-777
-
-
Bressman, S.B.1
De Leon, D.2
Kramer, P.L.3
Ozelius, L.J.4
Brin, M.F.5
Greene, P.E.6
Fahn, S.7
Breakefield, X.O.8
Risch, N.J.9
-
7
-
-
0031603819
-
Classification of dystonia
-
FAHN, S., BRESSMAN, S.B., and MARSDEN, C.D. (1998). Classification of dystonia. Adv. Neurol. 78, 1-10.
-
(1998)
Adv. Neurol.
, vol.78
, pp. 1-10
-
-
Fahn, S.1
Bressman, S.B.2
Marsden, C.D.3
-
8
-
-
0028806046
-
Genetic discrimination and health insurance: An urgent need for reform
-
HUDSON, K.L., ROTHENBERG, K.H., ANDREWS, L.B., KAHN, M.J.E., and COLLINS, F.S. (1995). Genetic discrimination and health insurance: an urgent need for reform. Science 270, 391-393.
-
(1995)
Science
, vol.270
, pp. 391-393
-
-
Hudson, K.L.1
Rothenberg, K.H.2
Andrews, L.B.3
Kahn, M.J.E.4
Collins, F.S.5
-
9
-
-
0025285112
-
Ethical and legal dilemmas arising during predictive testing for adult-onset disease: The experience of Huntington Disease
-
HUGGINS, M., BLOCH, M., KANANI, S., QUARRELL, W.J., THEILMAN, J., HEDRICK, A., DICKENS, B., LYNCH, A., and HAYDEN, M. (1990). Ethical and legal dilemmas arising during predictive testing for adult-onset disease: the experience of Huntington Disease. Am. J. Hum. Genet. 47, 4-12.
-
(1990)
Am. J. Hum. Genet.
, vol.47
, pp. 4-12
-
-
Huggins, M.1
Bloch, M.2
Kanani, S.3
Quarrell, W.J.4
Theilman, J.5
Hedrick, A.6
Dickens, B.7
Lynch, A.8
Hayden, M.9
-
10
-
-
0032805428
-
Primary torsion dystonia: The search for genes is not over
-
JARMAN, P.R., DEL GROSSO, N., VALENTE, E.M., LEUBE, B., CASSETTA, E., BENTIVOGLIO, A.R., WADDY, H.M., UITTI, R.J., MARAGANORE, D.M., ALBANESE, A., FRONTALI, M., AUBURGER, G., BRESSMAN, S.B., WOOD, N.W., and NYGAARD, T.G. (1999). Primary torsion dystonia: the search for genes is not over. J. Neurol. Neurosurg. Psych. 67, 395-397.
-
(1999)
J. Neurol. Neurosurg. Psych.
, vol.67
, pp. 395-397
-
-
Jarman, P.R.1
Del Grosso, N.2
Valente, E.M.3
Leube, B.4
Cassetta, E.5
Bentivoglio, A.R.6
Waddy, H.M.7
Uitti, R.J.8
Maraganore, D.M.9
Albanese, A.10
Frontali, M.11
Auburger, G.12
Bressman, S.B.13
Wood, N.W.14
Nygaard, T.G.15
-
11
-
-
0031714370
-
Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol
-
KLEIN, C., PRAMSTALLER, P.P., CASTELLAN, C.C., BREAKEFIELD, X.O., KRAMER, P.L., and OZELIUS, L.J. (1998a). Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol. Ann. Neurol. 44, 394-398.
-
(1998)
Ann. Neurol.
, vol.44
, pp. 394-398
-
-
Klein, C.1
Pramstaller, P.P.2
Castellan, C.C.3
Breakefield, X.O.4
Kramer, P.L.5
Ozelius, L.J.6
-
12
-
-
7144256520
-
De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia
-
KLEIN, C., BRIN, M.F., DE LEON, D., LIMBORSKA, S.A., IVANOVA-SMOLENSKAYA, I.A., BRESSMAN, S.B., FRIEDMAN, A., MARKOVA, E.D., RISCH, N.J., BREAKEFIELD, X.O., and OZELIUS, L.J. (1998b). De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum. Mol. Genet. 7, 1133-1136.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1133-1136
-
-
Klein, C.1
Brin, M.F.2
De Leon, D.3
Limborska, S.A.4
Ivanova-Smolenskaya, I.A.5
Bressman, S.B.6
Friedman, A.7
Markova, E.D.8
Risch, N.J.9
Breakefield, X.O.10
Ozelius, L.J.11
-
13
-
-
0032471930
-
Search for a founder mutation in idiopathic focal dystonia from Northern Germany
-
KLEIN, C., OZELIUS, L., HAGENAH, J., BREAKEFIELD, X.O., RISCH, N.J., and VIEREGGE, P. (1998c). Search for a founder mutation in idiopathic focal dystonia from Northern Germany. Am. J. Hum. Genet. 63, 1777-1782.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1777-1782
-
-
Klein, C.1
Ozelius, L.2
Hagenah, J.3
Breakefield, X.O.4
Risch, N.J.5
Vieregge, P.6
-
14
-
-
0032708965
-
Genetics of primary dystonia
-
KLEIN, C., BREAKEFIELD, X.O., and OZELIUS, L.J. (1999). Genetics of primary dystonia. Semin. Neuro. 19, 271-280.
-
(1999)
Semin. Neuro.
, vol.19
, pp. 271-280
-
-
Klein, C.1
Breakefield, X.O.2
Ozelius, L.J.3
-
15
-
-
0032951850
-
DYT1 mutation in French families with idiopathic torsion dystonia
-
LEBRE, A.S., DURR, A., JEDYNAK, P., PONSOT, G., VIDAILHET, M., AGID, Y., and BRICE, A. (1999). DYT1 mutation in French families with idiopathic torsion dystonia. Brain 122, 41-45.
-
(1999)
Brain
, vol.122
, pp. 41-45
-
-
Lebre, A.S.1
Durr, A.2
Jedynak, P.3
Ponsot, G.4
Vidailhet, M.5
Agid, Y.6
Brice, A.7
-
16
-
-
0030875011
-
Sporadic focal dystonia in Northwest Germany: Molecular basis on chromosome 18p
-
LEUBE, B., HENDGEN, T., KESSLER, K.R., KNAPP, M., BENECKE, R., and AUBURGER, G. (1997). Sporadic focal dystonia in Northwest Germany: molecular basis on chromosome 18p. Ann. Neurol. 42, 111-114.
-
(1997)
Ann. Neurol.
, vol.42
, pp. 111-114
-
-
Leube, B.1
Hendgen, T.2
Kessler, K.R.3
Knapp, M.4
Benecke, R.5
Auburger, G.6
-
17
-
-
0030070408
-
The need for anonymous genetic counseling and testing
-
MEHLMAN, M.J., KODISH, E.D., WHITEHOUS, P., ZINN, A.B., SOLLITTO, S., BERGER, J., CHIAO, E.J., DOSICK, M.S., and CASSIDY, S.B. (1996). The need for anonymous genetic counseling and testing. Am. J. Hum. Genet. 58, 393-397.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 393-397
-
-
Mehlman, M.J.1
Kodish, E.D.2
Whitehous, P.3
Zinn, A.B.4
Sollitto, S.5
Berger, J.6
Chiao, E.J.7
Dosick, M.S.8
Cassidy, S.B.9
-
18
-
-
0028067336
-
Predictive genetic diagnosis
-
MOTULSKY, A.G. (1994). Predictive genetic diagnosis. Am. J. Hum. Genet. 55, 603-605.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 603-605
-
-
Motulsky, A.G.1
-
19
-
-
0032008670
-
Clinical and molecular genetics of primary dystonias
-
MÜLLER, U., STEINBERGER, D., and NÉMETH, A.H. (1998). Clinical and molecular genetics of primary dystonias. Neurogenetics 1, 165-177.
-
(1998)
Neurogenetics
, vol.1
, pp. 165-177
-
-
Müller, U.1
Steinberger, D.2
Németh, A.H.3
-
20
-
-
16944366666
-
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
-
OZELIUS, L.J., HEWETT, J.W., PAGE, C.E., BRESSMAN, S.B., KRAMER, P.L., SHALISH, C., DE LEON, D., BRIN, M.F., RAYMOND, D., COREY, D.P., FAHN, S., RISCH, N.J., BUCKLER, A.J., GUSELLA, J.F., and BREAKEFIELD, X.O. (1997). The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genet. 17, 40-48.
-
(1997)
Nature Genet.
, vol.17
, pp. 40-48
-
-
Ozelius, L.J.1
Hewett, J.W.2
Page, C.E.3
Bressman, S.B.4
Kramer, P.L.5
Shalish, C.6
De Leon, D.7
Brin, M.F.8
Raymond, D.9
Corey, D.P.10
Fahn, S.11
Risch, N.J.12
Buckler, A.J.13
Gusella, J.F.14
Breakefield, X.O.15
-
21
-
-
4243592788
-
Clinical and genetic evaluation of twelve patients with young-onset Parkinson's disease and report of a new mutation in the parkin gene
-
OZELIUS, L.J., KLEIN, C., FRIEDMAN, J., KANN, M., JACOBS, H., PRAMSTALLER, P.P., BREAKEFIELD, X.O., and VIEREGGE, P. (1999). Clinical and genetic evaluation of twelve patients with young-onset Parkinson's disease and report of a new mutation in the parkin gene. Neurology 52, (Suppl. 2), A11.
-
(1999)
Neurology
, vol.52
, Issue.2 SUPPL.
-
-
Ozelius, L.J.1
Klein, C.2
Friedman, J.3
Kann, M.4
Jacobs, H.5
Pramstaller, P.P.6
Breakefield, X.O.7
Vieregge, P.8
-
22
-
-
0033572356
-
The TORIA (DYT1) gene family and its role in early onset torsion dystonia
-
in press
-
OZELIUS, L.J., PAGE, C.E., KLEIN, C., HEWETT, J.W., MINETA, M., LEUNG, J., SHALISH, C., BRESSMAN, S.B., DE LEON, D., BRIN, M.F., FAHN, S., COREY, D.P., and BREAKEFIELD, X.O. (1999). The TORIA (DYT1) gene family and its role in early onset torsion dystonia. Genomics (in press).
-
(1999)
Genomics
-
-
Ozelius, L.J.1
Page, C.E.2
Klein, C.3
Hewett, J.W.4
Mineta, M.5
Leung, J.6
Shalish, C.7
Bressman, S.B.8
De Leon, D.9
Brin, M.F.10
Fahn, S.11
Corey, D.P.12
Breakefield, X.O.13
-
23
-
-
0025349857
-
Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance
-
RISCH, N.J., BRESSMAN, S.B., DE LEON, D., BRIN, M.F., BURKE, R.E., GREENE, P.E., SHALE, H., CLAUS, E.B., CUPPLES, L.A., and FAHN, S. (1990). Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am. J. Hum. Genet. 46, 533-538.
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 533-538
-
-
Risch, N.J.1
Bressman, S.B.2
De Leon, D.3
Brin, M.F.4
Burke, R.E.5
Greene, P.E.6
Shale, H.7
Claus, E.B.8
Cupples, L.A.9
Fahn, S.10
-
24
-
-
0028819262
-
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
-
RISCH, N.J., DE LEON, D., OZELIUS, L., KRAMER, P., ALMASY, L., SINGER, B., FAHN, S., BREAKEFIELD, X., and BRESSMAN, S. (1995). Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nature Genet. 9, 152-159.
-
(1995)
Nature Genet.
, vol.9
, pp. 152-159
-
-
Risch, N.J.1
De Leon, D.2
Ozelius, L.3
Kramer, P.4
Almasy, L.5
Singer, B.6
Fahn, S.7
Breakefield, X.8
Bressman, S.9
-
25
-
-
0027714732
-
A rapid and nonradioactive PCR based assay for the detection of allelic loss in human gliomas
-
V. DEIMLING, A., BENDER, B., LOUIS, D.N., and WIESTLER, O.D. (1993). A rapid and nonradioactive PCR based assay for the detection of allelic loss in human gliomas. Neuropathol. Appl. Neurobiol. 19, 524-529.
-
(1993)
Neuropathol. Appl. Neurobiol.
, vol.19
, pp. 524-529
-
-
V. Deimling, A.1
Bender, B.2
Louis, D.N.3
Wiestler, O.D.4
-
26
-
-
0031797115
-
The role of DYT1 in primary torsion dystonia in Europe
-
VALENTE, E.M., WARNER, T.T., JARMAN, P.R., MATHEN, D., FLETCHER, N.A., MARSDEN, C.D., BHATIA, K.P., and WOOD, N.W. (1998). The role of DYT1 in primary torsion dystonia in Europe. Brain 121, 2335-2339.
-
(1998)
Brain
, vol.121
, pp. 2335-2339
-
-
Valente, E.M.1
Warner, T.T.2
Jarman, P.R.3
Mathen, D.4
Fletcher, N.A.5
Marsden, C.D.6
Bhatia, K.P.7
Wood, N.W.8
-
27
-
-
0026099811
-
A genetic study of idiopathic focal dystonias
-
WADDY, H.M., FLETCHER, N.A., HARDING, A.E., and MARSDEN, C.D. (1991). A genetic study of idiopathic focal dystonias. Ann. Neurol. 29, 320-324.
-
(1991)
Ann. Neurol.
, vol.29
, pp. 320-324
-
-
Waddy, H.M.1
Fletcher, N.A.2
Harding, A.E.3
Marsden, C.D.4
-
28
-
-
0028132846
-
Genetic testing for children and adolescents. Who decides?
-
WERTZ, D.C., FANOS, J.H., and REILLY, P.R. (1994). Genetic testing for children and adolescents. Who decides? J. Am. Med. Assn. 272, 875-881.
-
(1994)
J. Am. Med. Assn.
, vol.272
, pp. 875-881
-
-
Wertz, D.C.1
Fanos, J.H.2
Reilly, P.R.3
-
29
-
-
0014066997
-
Dystonia musculorum deformans: Clinical, genetic and pathoanatomical studies
-
ZEMAN, W., and DYKEN, P. (1967). Dystonia musculorum deformans: clinical, genetic and pathoanatomical studies. Psychiatr. Neurol. Neurochir. 70, 77-121.
-
(1967)
Psychiatr. Neurol. Neurochir.
, vol.70
, pp. 77-121
-
-
Zeman, W.1
Dyken, P.2
|