-
3
-
-
34447333672
-
Genetic evaluation in primary dystonia
-
Stacy M Ed, Taylor and Francis Group, NY, USA
-
Klein C, Ozelius LJ, Breakefield XO: Genetic evaluation in primary dystonia. In: Handbook of Dystonia. Stacy M (Ed.). Taylor and Francis Group, NY, USA 21-44 (2007).
-
(2007)
Handbook of Dystonia
, pp. 21-44
-
-
Klein, C.1
Ozelius, L.J.2
Breakefield, X.O.3
-
4
-
-
16944366666
-
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
-
Ozelius LJ, Hewett JW, Page CE et al.: The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat. Genet. 17, 40-48 (1997).
-
(1997)
Nat. Genet
, vol.17
, pp. 40-48
-
-
Ozelius, L.J.1
Hewett, J.W.2
Page, C.E.3
-
5
-
-
0023744877
-
Hereditary torsion dystonia in gypsies
-
Gimenez-Roldan S, Delgado G, Marin M, Villanueva JA, Mateo D: Hereditary torsion dystonia in gypsies. Adv. Aeurol. 50, 73-81 (1988).
-
(1988)
Adv. Aeurol
, vol.50
, pp. 73-81
-
-
Gimenez-Roldan, S.1
Delgado, G.2
Marin, M.3
Villanueva, J.A.4
Mateo, D.5
-
6
-
-
0347994919
-
Aurosomal recessive, DYT2-like primary torsion dystonia: A new family
-
Khan NL, Wood NW, Bhatia KP: Aurosomal recessive, DYT2-like primary torsion dystonia: a new family. Neurology 61, 1801-1803 (2003).
-
(2003)
Neurology
, vol.61
, pp. 1801-1803
-
-
Khan, N.L.1
Wood, N.W.2
Bhatia, K.P.3
-
7
-
-
0021816202
-
Hereditary whispering dysphonia
-
Parker N: Hereditary whispering dysphonia. J. Neurol. Neurosurg. Pychiatry 48, 218-224 (1985).
-
(1985)
J. Neurol. Neurosurg. Pychiatry
, vol.48
, pp. 218-224
-
-
Parker, N.1
-
8
-
-
0027401233
-
Evidence for locus heterogeneity in autosomal dominant torsion dystonia
-
Ahmad F, Davis MB, Waddy HM, Cley CA, Marsden CD, Harding AE: Evidence for locus heterogeneity in autosomal dominant torsion dystonia. Genomics 15, 9-12 (1993).
-
(1993)
Genomics
, vol.15
, pp. 9-12
-
-
Ahmad, F.1
Davis, M.B.2
Waddy, H.M.3
Cley, C.A.4
Marsden, C.D.5
Harding, A.E.6
-
9
-
-
0030868892
-
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families
-
Almasy L, Bressman SB, Raymond D et al.: Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann. Neurol. 42, 670-673 (1997).
-
(1997)
Ann. Neurol
, vol.42
, pp. 670-673
-
-
Almasy, L.1
Bressman, S.B.2
Raymond, D.3
-
10
-
-
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
-
Leube B, Rudnicki D, Ratzlaff T, Kessler KR, Benecke R, Auburger G: 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, 1673-1677 (1996).
-
(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
-
11
-
-
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
-
Valente EM, Bentivoglio AR, Cassetta E 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, 362-366 (2001).
-
(2001)
Ann. Neurol
, vol.49
, pp. 362-366
-
-
Valente, E.M.1
Bentivoglio, A.R.2
Cassetta, E.3
-
12
-
-
0016913614
-
Hereditary progressive dystonia with marked diurnal fluctuation
-
Segawa M, Hosaka A, Miyagawa F, Nomura Y, Imai H: Hereditary progressive dystonia with marked diurnal fluctuation. Adv. Neurol. 14, 215-233 (1976).
-
(1976)
Adv. Neurol
, vol.14
, pp. 215-233
-
-
Segawa, M.1
Hosaka, A.2
Miyagawa, F.3
Nomura, Y.4
Imai, H.5
-
13
-
-
27644437164
-
Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene
-
Asmus F, Salih F, Hjermind LE et al.: Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. Ann. Neurol. 58, 792-797 (2005).
-
(2005)
Ann. Neurol
, vol.58
, pp. 792-797
-
-
Asmus, F.1
Salih, F.2
Hjermind, L.E.3
-
15
-
-
3142721995
-
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis
-
Rainier S, Thomas D, Tokarz D et al.: Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch. Neurol. 61, 1025-1029 (2004).
-
(2004)
Arch. Neurol
, vol.61
, pp. 1025-1029
-
-
Rainier, S.1
Thomas, D.2
Tokarz, D.3
-
16
-
-
19944407549
-
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway
-
Lee HY, Xu Y, Huang Y et al.: The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum. Mol. Genet. 13, 3161-3170 (2004).
-
(2004)
Hum. Mol. Genet
, vol.13
, pp. 3161-3170
-
-
Lee, H.Y.1
Xu, Y.2
Huang, Y.3
-
17
-
-
0028950638
-
Spread of symptoms in idiopathic torsion dystonia
-
Greene P, Kang UJ, Fahn S: Spread of symptoms in idiopathic torsion dystonia. Mov. Disord. 10, 143-152 (1995).
-
(1995)
Mov. Disord
, vol.10
, pp. 143-152
-
-
Greene, P.1
Kang, U.J.2
Fahn, S.3
-
18
-
-
0034624938
-
The DYT1 phenotype and guidelines for diagnostic testing
-
Bressman SB, Sabatti C, Raymond D et al.: The DYT1 phenotype and guidelines for diagnostic testing. Neurology 54, 1746-1752 (2000).
-
(2000)
Neurology
, vol.54
, pp. 1746-1752
-
-
Bressman, S.B.1
Sabatti, C.2
Raymond, D.3
-
19
-
-
0033544373
-
Sex-related influences on the frequency and age of onset of primary dystonia
-
ESDE Collaborative Group
-
ESDE Collaborative Group: Sex-related influences on the frequency and age of onset of primary dystonia. Neurology 53, 1871-1873 (1999).
-
(1999)
Neurology
, vol.53
, pp. 1871-1873
-
-
-
20
-
-
0032823454
-
Risk factors for spread of primary adult onset blepharospasm: A multicentre investigation of the Italian movement disorders study group
-
Defazio G, Berardelli A, Abbruzzese G et al.: Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group. J. Neurol. Neurosurg. Psychiatry 67, 613-619 (1999).
-
(1999)
J. Neurol. Neurosurg. Psychiatry
, vol.67
, pp. 613-619
-
-
Defazio, G.1
Berardelli, A.2
Abbruzzese, G.3
-
21
-
-
0025231471
-
Natural history of adult-onset idiopathic torticollis
-
Jahanshahi M, Marion MH, Marsden CD: Natural history of adult-onset idiopathic torticollis. Arch. Neurol. 47, 548-552 (1990).
-
(1990)
Arch. Neurol
, vol.47
, pp. 548-552
-
-
Jahanshahi, M.1
Marion, M.H.2
Marsden, C.D.3
-
22
-
-
0023757658
-
Epidemiology of dystonia in Rochester, Minnesota
-
Nutt JG, Muenter MD, Melton L Jr, Aronson A, Kurland LT: Epidemiology of dystonia in Rochester, Minnesota. Adv. Aeurol. 50, 361-365 (1988).
-
(1988)
Adv. Aeurol
, vol.50
, pp. 361-365
-
-
Nutt, J.G.1
Muenter, M.D.2
Melton Jr, L.3
Aronson, A.4
Kurland, L.T.5
-
23
-
-
0037167549
-
The prevalence of primary dystonia in the general community
-
Muller J, Kiechl S, Wenning GK et al.: The prevalence of primary dystonia in the general community. Neurology 59, 941-943 (2002).
-
(2002)
Neurology
, vol.59
, pp. 941-943
-
-
Muller, J.1
Kiechl, S.2
Wenning, G.K.3
-
24
-
-
0025349857
-
Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance
-
Risch NJ, Bressman SB, de Leon D et al.: Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am. J. Hum. Genet. 46, 533-538 (1990).
-
(1990)
Am. J. Hum. Genet
, vol.46
, pp. 533-538
-
-
Risch, N.J.1
Bressman, S.B.2
de Leon, D.3
-
25
-
-
7144256520
-
De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia
-
Klein C, Brin MF, de Leon D et al.: 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).
-
(1998)
Hum. Mol. Genet
, vol.7
, pp. 1133-1136
-
-
Klein, C.1
Brin, M.F.2
de Leon, D.3
-
26
-
-
0038123157
-
Impaired sequence learning in carriers of the DYT1 dystonia mutation
-
Ghilardi MF, Carbon M, Silvestri G et al.: Impaired sequence learning in carriers of the DYT1 dystonia mutation. Ann. Neurol. 54, 102-109 (2003).
-
(2003)
Ann. Neurol
, vol.54
, pp. 102-109
-
-
Ghilardi, M.F.1
Carbon, M.2
Silvestri, G.3
-
27
-
-
3843067672
-
Microstructural white marter changes in carriers of the DYT1 gene mutation
-
Carbon M, Kingsley PB, Su S et al.: Microstructural white marter changes in carriers of the DYT1 gene mutation. Ann. Neurol. 56, 283-286 (2004).
-
(2004)
Ann. Neurol
, vol.56
, pp. 283-286
-
-
Carbon, M.1
Kingsley, P.B.2
Su, S.3
-
28
-
-
12544260182
-
Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation
-
Asanuma K, Ma Y, Okulski J et al.: Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation. Neurology 64, 347-349 (2005).
-
(2005)
Neurology
, vol.64
, pp. 347-349
-
-
Asanuma, K.1
Ma, Y.2
Okulski, J.3
-
29
-
-
0031716770
-
Functional brain networks in DYT1 dystonia
-
Eidelberg D, Moeller JR, Antonini A et al.: Functional brain networks in DYT1 dystonia. Ann. Neurol. 44, 303-312 (1998).
-
(1998)
Ann. Neurol
, vol.44
, pp. 303-312
-
-
Eidelberg, D.1
Moeller, J.R.2
Antonini, A.3
-
30
-
-
0023673622
-
Primary dystonias: A review of the pathology and suggestions for new directions of study
-
Hedreen JC, Zweig RM, DeLong MR, Whitehouse PJ, Price DL: Primary dystonias: a review of the pathology and suggestions for new directions of study. Adv. Neurol. 50, 123-132 (1988).
-
(1988)
Adv. Neurol
, vol.50
, pp. 123-132
-
-
Hedreen, J.C.1
Zweig, R.M.2
DeLong, M.R.3
Whitehouse, P.J.4
Price, D.L.5
-
31
-
-
0037329443
-
TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion
-
Rostasy K, Augood SJ, Hewett JW et al.: TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion. Neurobiol. Dis. 12, 11-24 (2003).
-
(2003)
Neurobiol. Dis
, vol.12
, pp. 11-24
-
-
Rostasy, K.1
Augood, S.J.2
Hewett, J.W.3
-
32
-
-
4844225770
-
Brainstem pathology in DYT1 primary torsion dystonia
-
McNaught KS, Kapustin A, Jackson T et al.: Brainstem pathology in DYT1 primary torsion dystonia. Ann. Neurol. 56, 540-547 (2004).
-
(2004)
Ann. Neurol
, vol.56
, pp. 540-547
-
-
McNaught, K.S.1
Kapustin, A.2
Jackson, T.3
-
33
-
-
34249653516
-
Do primary adult-onset focal dystonias share aetiological factors?
-
Defazio G, Berardelli A, Hallett M: Do primary adult-onset focal dystonias share aetiological factors? Brain 130, 1183-1193 (2007).
-
(2007)
Brain
, vol.130
, pp. 1183-1193
-
-
Defazio, G.1
Berardelli, A.2
Hallett, M.3
-
34
-
-
4143083744
-
Increased risk for recurrent major depression in DYT1 dystonia mutation carriers
-
Heiman GA, Ottman R, Saunders-Pullman RJ, Ozelius LJ, Risch NJ, Bressman SB: Increased risk for recurrent major depression in DYT1 dystonia mutation carriers. Neurology 63, 631-637 (2004).
-
(2004)
Neurology
, vol.63
, pp. 631-637
-
-
Heiman, G.A.1
Ottman, R.2
Saunders-Pullman, R.J.3
Ozelius, L.J.4
Risch, N.J.5
Bressman, S.B.6
-
35
-
-
0031878303
-
Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset
-
Gasser T, Windgassen K, Bereznai B, Kabus C, Ludolph AC: Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset. Ann. Neurol. 44, 126-128 (1998).
-
(1998)
Ann. Neurol
, vol.44
, pp. 126-128
-
-
Gasser, T.1
Windgassen, K.2
Bereznai, B.3
Kabus, C.4
Ludolph, A.C.5
-
36
-
-
0036523711
-
Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm
-
Opal P, Tintner R, Jankovic J et al.: Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm. Mov. Disord. 17, 339-345 (2002).
-
(2002)
Mov. Disord
, vol.17
, pp. 339-345
-
-
Opal, P.1
Tintner, R.2
Jankovic, J.3
-
37
-
-
0032825414
-
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: A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. Neurogenetics 2, 189-190 (1999).
-
(1999)
Neurogenetics
, vol.2
, pp. 189-190
-
-
Ikeuchi, T.1
Shimohata, T.2
Nakano, R.3
Koide, R.4
Takano, H.5
Tsuji, S.6
-
38
-
-
0032895322
-
Phenotypic variability of the DYT1 mutation in German dystonia patients
-
Leube B, Kessler KR, Ferbert A et al.: Phenotypic variability of the DYT1 mutation in German dystonia patients. Acta Neurol. Scand. 99, 248-251 (1999).
-
(1999)
Acta Neurol. Scand
, vol.99
, pp. 248-251
-
-
Leube, B.1
Kessler, K.R.2
Ferbert, A.3
-
39
-
-
0037746661
-
Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature
-
Edwards M, Wood N, Bhatia K: Unusual phenotypes in DYT1 dystonia: a report of five cases and a review of the literature. Mov. Disorder. 18, 706-711 (2003).
-
(2003)
Mov. Disorder
, vol.18
, pp. 706-711
-
-
Edwards, M.1
Wood, N.2
Bhatia, K.3
-
40
-
-
3042838149
-
Writer's cramp in an Australian pedigree with DYT1 dystonia
-
Van Den Bos M, Marotta R, Goldup S et al.: Writer's cramp in an Australian pedigree with DYT1 dystonia. J. Clin. Neurosci. 11, 537-539 (2004).
-
(2004)
J. Clin. Neurosci
, vol.11
, pp. 537-539
-
-
Van Den Bos, M.1
Marotta, R.2
Goldup, S.3
-
41
-
-
33750993730
-
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia
-
Gambarin M, Valente EM, Liberini P et al.: Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia. Mov. Disord. 21, 1782-1784 (2006).
-
(2006)
Mov. Disord
, vol.21
, pp. 1782-1784
-
-
Gambarin, M.1
Valente, E.M.2
Liberini, P.3
-
42
-
-
0033572356
-
The TOR1A (DYT1) gene family and its role in early onset torsion dystonia
-
Ozelius LJ, Page CE, Klein C et al.: The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics 62, 377-384 (1999).
-
(1999)
Genomics
, vol.62
, pp. 377-384
-
-
Ozelius, L.J.1
Page, C.E.2
Klein, C.3
-
43
-
-
0036193086
-
Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins
-
Dron M, Meritet JF, Dandoy-Dron F, Meyniel JP, Maury C, Tovey MG: Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins. Genomics 79, 315-325 (2002).
-
(2002)
Genomics
, vol.79
, pp. 315-325
-
-
Dron, M.1
Meritet, J.F.2
Dandoy-Dron, F.3
Meyniel, J.P.4
Maury, C.5
Tovey, M.G.6
-
44
-
-
0035202870
-
The Caenorhabditis elegans polarity gene ooc-5 encodes a Torsin-related protein of the AAA ATPase superfamily
-
Basham SE, Rose LS: The Caenorhabditis elegans polarity gene ooc-5 encodes a Torsin-related protein of the AAA ATPase superfamily. Development 128, 4645-4656 (2001).
-
(2001)
Development
, vol.128
, pp. 4645-4656
-
-
Basham, S.E.1
Rose, L.S.2
-
45
-
-
0037319121
-
Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins
-
Caldwell GA, Cao S, Sexton EG, Gelwix CC, Bevel JP, Caldwell KA: Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins. Hum. Mol. Genet. 12, 307-319 (2003).
-
(2003)
Hum. Mol. Genet
, vol.12
, pp. 307-319
-
-
Caldwell, G.A.1
Cao, S.2
Sexton, E.G.3
Gelwix, C.C.4
Bevel, J.P.5
Caldwell, K.A.6
-
46
-
-
17644392138
-
Torsin-modiated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans
-
Cao S, Gelwix CC, Caldwell KA, Caldwell GA: Torsin-modiated protection from cellular stress in the dopaminergic neurons of Caenorhabditis elegans. J. Neurosci. 25, 3801-3812 (2005).
-
(2005)
J. Neurosci
, vol.25
, pp. 3801-3812
-
-
Cao, S.1
Gelwix, C.C.2
Caldwell, K.A.3
Caldwell, G.A.4
-
47
-
-
5744240629
-
A Drosophila model of early onset torsion dystonia suggests impairment in TGF-β signaling
-
Koh YH, Rehfeld K, Ganetzky B: A Drosophila model of early onset torsion dystonia suggests impairment in TGF-β signaling. Hum. Mol. Genet. 13, 2019-2030 (2004).
-
(2004)
Hum. Mol. Genet
, vol.13
, pp. 2019-2030
-
-
Koh, Y.H.1
Rehfeld, K.2
Ganetzky, B.3
-
48
-
-
33750818947
-
Down-regulation of torp4a, encoding the Drosophila homologue of torsinA, results in increased neuronal degeneration
-
Muraro NI, Moffat KG: Down-regulation of torp4a, encoding the Drosophila homologue of torsinA, results in increased neuronal degeneration. J. Neurobiol. 66, 1338-1353 (2006).
-
(2006)
J. Neurobiol
, vol.66
, pp. 1338-1353
-
-
Muraro, N.I.1
Moffat, K.G.2
-
49
-
-
0030867486
-
Self-compartmentalizing proteases
-
Lupas A, Flanagan JM, Tamura T, Baumeister W: Self-compartmentalizing proteases. Trends Biochem. Sci. 22, 399-404 (1997).
-
(1997)
Trends Biochem. Sci
, vol.22
, pp. 399-404
-
-
Lupas, A.1
Flanagan, J.M.2
Tamura, T.3
Baumeister, W.4
-
50
-
-
0032969563
-
+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes
-
+: a class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes. Genomic Res. 9, 27-43 (1999).
-
(1999)
Genomic Res
, vol.9
, pp. 27-43
-
-
Neuwald, A.F.1
Aravind, L.2
Spouge, J.L.3
Koonin, E.V.4
-
51
-
-
33645814863
-
Effects of genetic variations in the dystonia protein torsinA: Identification of polymorphism at residue 216 as protein modifier
-
Kock N, Naismith TV, Boston HE et al.: Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum. Mol. Genet. 15, 1355-1364 (2006).
-
(2006)
Hum. Mol. Genet
, vol.15
, pp. 1355-1364
-
-
Kock, N.1
Naismith, T.V.2
Boston, H.E.3
-
53
-
-
0034632063
-
AAA proteins. Lords of the ring
-
Vale RD: AAA proteins. Lords of the ring. J. Cell Biol. 150, F13-F19 (2000).
-
(2000)
J. Cell Biol
, vol.150
-
-
Vale, R.D.1
-
54
-
-
0034702033
-
Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells
-
Hewett J, Gonzalez-Agosti C, Slater D et al.: Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. Hum. Mol. Genet. 9, 1403-1413 (2000).
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 1403-1413
-
-
Hewett, J.1
Gonzalez-Agosti, C.2
Slater, D.3
-
55
-
-
0034623158
-
TorsinA and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations
-
Kustedjo K, Bracey MH, Cravatt BF: TorsinA and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. J. Biol. Chem. 275, 680-685 (2000).
-
(2000)
J. Biol. Chem
, vol.275
, pp. 680-685
-
-
Kustedjo, K.1
Bracey, M.H.2
Cravatt, B.F.3
-
56
-
-
8144230422
-
Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated ΔE-torsinA mutant
-
Torres GE, Sweeney AL, Beaulieu JM, Shashidharan P, Caron MG: Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated ΔE-torsinA mutant: Proc. Natl Acad. Sci. USA 101, 15650-15655 (2004).
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 15650-15655
-
-
Torres, G.E.1
Sweeney, A.L.2
Beaulieu, J.M.3
Shashidharan, P.4
Caron, M.G.5
-
57
-
-
34249850241
-
Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells
-
Hewett JW, Tannous B, Niland BP et al.: Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells. Proc. Natl Acad. Sci USA 104, 7271-7276 (2007).
-
(2007)
Proc. Natl Acad. Sci USA
, vol.104
, pp. 7271-7276
-
-
Hewett, J.W.1
Tannous, B.2
Niland, B.P.3
-
58
-
-
33645154135
-
Cellular response to endoplasmic reticulum stress: A matter of life or death
-
Boyce M, Yuan J: Cellular response to endoplasmic reticulum stress: a matter of life or death. Cell Death Differ. 13, 363-373 (2006).
-
(2006)
Cell Death Differ
, vol.13
, pp. 363-373
-
-
Boyce, M.1
Yuan, J.2
-
59
-
-
33644858343
-
The unfolded protein response: A stress signaling pathway critical for health and disease
-
Zhang K, Kaufman RJ: The unfolded protein response: a stress signaling pathway critical for health and disease. Neurology 66, S102-S109 (2006).
-
(2006)
Neurology
, vol.66
-
-
Zhang, K.1
Kaufman, R.J.2
-
60
-
-
0036846119
-
TorsinA and heat shock proteins act as molecular chaperones: Suppression of α-synuclein aggregation
-
McLean PJ, Kawamata H, Shariff S et al.: TorsinA and heat shock proteins act as molecular chaperones: suppression of α-synuclein aggregation. J. Neurochem. 83, 846-854 (2002).
-
(2002)
J. Neurochem
, vol.83
, pp. 846-854
-
-
McLean, P.J.1
Kawamata, H.2
Shariff, S.3
-
61
-
-
0141448740
-
TorsinA protects against oxidative stress in COS-1 and PC12 cells
-
Kuner R, Teismann P, Trutzel A et al.: TorsinA protects against oxidative stress in COS-1 and PC12 cells. Neurosci. Lett. 350, 153-156 (2003).
-
(2003)
Neurosci. Lett
, vol.350
, pp. 153-156
-
-
Kuner, R.1
Teismann, P.2
Trutzel, A.3
-
62
-
-
0037445915
-
TorsinA in PC12 cells: Localization in the endoplasmic reticulum and response to stress
-
Hewett J, Ziefer P, Bergeron D et al.: TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress. J. Neurosci. Res. 72, 158-168 (2003).
-
(2003)
J. Neurosci. Res
, vol.72
, pp. 158-168
-
-
Hewett, J.1
Ziefer, P.2
Bergeron, D.3
-
63
-
-
1042289634
-
Overexpression of torsinA in PC12 cells protects against toxicity
-
Shashidharan P, Paris N, Sandu D et al.: Overexpression of torsinA in PC12 cells protects against toxicity. J. Neurochem. 88, 1019-1025 (2004).
-
(2004)
J. Neurochem
, vol.88
, pp. 1019-1025
-
-
Shashidharan, P.1
Paris, N.2
Sandu, D.3
-
64
-
-
2442637778
-
TorsinA in the nuclear envelope
-
Naismith TV, Heuser JE, Breakefield XO, Hanson PI: TorsinA in the nuclear envelope. Proc. Natl Acad. Sci. USA 101, 7612-7617 (2004).
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 7612-7617
-
-
Naismith, T.V.1
Heuser, J.E.2
Breakefield, X.O.3
Hanson, P.I.4
-
65
-
-
1642433201
-
Mislocalization to the nuclear envelope: An effect of the dystonia-causing torsinA mutation
-
Goodchild RE, Dauer WT: Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc. Natl Acad. Sci. USA 101, 847-852 (2004).
-
(2004)
Proc. Natl Acad. Sci. USA
, vol.101
, pp. 847-852
-
-
Goodchild, R.E.1
Dauer, W.T.2
-
66
-
-
1642290757
-
Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia
-
Gonzalez-Agosti P, Paulson HL: Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J. Neurosci. 24, 2593-2601 (2004).
-
(2004)
J. Neurosci
, vol.24
, pp. 2593-2601
-
-
Gonzalez-Agosti, P.1
Paulson, H.L.2
-
67
-
-
2442548666
-
The early onset dystonia protein torsinA interacts with kinesin light chain 1
-
Kamm C, Boston H, Hewett J et al.: The early onset dystonia protein torsinA interacts with kinesin light chain 1. J. Biol. Chem. 279, 19882-19892 (2004).
-
(2004)
J. Biol. Chem
, vol.279
, pp. 19882-19892
-
-
Kamm, C.1
Boston, H.2
Hewett, J.3
-
68
-
-
29144460260
-
Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope
-
Goodchild RE, Kim CE, Dauer WT: Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope. Neuron 48, 923-932 (2005).
-
(2005)
Neuron
, vol.48
, pp. 923-932
-
-
Goodchild, R.E.1
Kim, C.E.2
Dauer, W.T.3
-
69
-
-
0031867881
-
The pathophysiology of primary dystonia
-
Berardelli A, Rothwell JC, Hallett M, Thompson PD, Manfredi M, Marsden CD: The pathophysiology of primary dystonia. Brain 121, 1195-1212 (1998).
-
(1998)
Brain
, vol.121
, pp. 1195-1212
-
-
Berardelli, A.1
Rothwell, J.C.2
Hallett, M.3
Thompson, P.D.4
Manfredi, M.5
Marsden, C.D.6
-
70
-
-
3343026533
-
Developmental expression of rat torsinA transcript and protein
-
Xiao J, Gong S, Zhao Y, LeDoux MS: Developmental expression of rat torsinA transcript and protein. Brain Res. Dev. Brain Res. 152, 47-60 (2004).
-
(2004)
Brain Res. Dev. Brain Res
, vol.152
, pp. 47-60
-
-
Xiao, J.1
Gong, S.2
Zhao, Y.3
LeDoux, M.S.4
-
71
-
-
33644963223
-
-
Vasudevan A, Breakefield XO, Bhide P: Developmental patterns of torsinA and torsinB expression. Brain Res. 1073-1074, 139-145 (2006).
-
Vasudevan A, Breakefield XO, Bhide P: Developmental patterns of torsinA and torsinB expression. Brain Res. 1073-1074, 139-145 (2006).
-
-
-
-
72
-
-
27744567561
-
Generation and characterization of Dyt1 ΔGAG knock-in mouse as a model for early-onset dystonia
-
Dang MT, Yokoi F, McNaught KS et al.: Generation and characterization of Dyt1 ΔGAG knock-in mouse as a model for early-onset dystonia. Exp. Neurol. 196, 452-463 (2005).
-
(2005)
Exp. Neurol
, vol.196
, pp. 452-463
-
-
Dang, M.T.1
Yokoi, F.2
McNaught, K.S.3
-
73
-
-
0142026884
-
Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain
-
Augood SJ, Keller-McGandy CE, Siriani A et al.: Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain. Brain Res. 986, 12-21 (2003).
-
(2003)
Brain Res
, vol.986
, pp. 12-21
-
-
Augood, S.J.1
Keller-McGandy, C.E.2
Siriani, A.3
-
74
-
-
0033987354
-
Immunohistochemical localization and distribution of torsinA in normal human and rat brain
-
Shashidharan P, Kramer BC, Walker RH, Olanow CW, Brin MF: Immunohistochemical localization and distribution of torsinA in normal human and rat brain. Brain Res. 853, 197-206 (2000).
-
(2000)
Brain Res
, vol.853
, pp. 197-206
-
-
Shashidharan, P.1
Kramer, B.C.2
Walker, R.H.3
Olanow, C.W.4
Brin, M.F.5
-
75
-
-
0142072117
-
Development and anatomic localization of torsinA
-
Oberlin SR, Konakova M, Pulst S, Chesselet MR: Development and anatomic localization of torsinA. Adv. Neurol. 94, 61-65 (2004).
-
(2004)
Adv. Neurol
, vol.94
, pp. 61-65
-
-
Oberlin, S.R.1
Konakova, M.2
Pulst, S.3
Chesselet, M.R.4
-
77
-
-
33751019482
-
Motor deficits and hyperactivity in DYT1 knockdown mice
-
Dang MT, Yokoi F, Pence MA, Li Y: Motor deficits and hyperactivity in DYT1 knockdown mice. Neurosci. Res. 56, 470-474 (2006).
-
(2006)
Neurosci. Res
, vol.56
, pp. 470-474
-
-
Dang, M.T.1
Yokoi, F.2
Pence, M.A.3
Li, Y.4
-
78
-
-
18044403431
-
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
-
Leung JC, Klein C, Friedman J et al.: Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 3, 133-143 (2001).
-
(2001)
Neurogenetics
, vol.3
, pp. 133-143
-
-
Leung, J.C.1
Klein, C.2
Friedman, J.3
-
79
-
-
10744223557
-
Mutations in DYT1: Extension of the phenotypic and mutational spectrum
-
Kabakci K, Hedrich K, Leung JC et al.: Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology 62, 395-400 (2004).
-
(2004)
Neurology
, vol.62
, pp. 395-400
-
-
Kabakci, K.1
Hedrich, K.2
Leung, J.C.3
-
80
-
-
0037039217
-
TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia
-
Walker RH, Brin MF, Sandu D, Good PF, Shashidharan P: TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia. Neurology 58, 120-124 (2002).
-
(2002)
Neurology
, vol.58
, pp. 120-124
-
-
Walker, R.H.1
Brin, M.F.2
Sandu, D.3
Good, P.F.4
Shashidharan, P.5
-
81
-
-
33645078104
-
Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics
-
Hewett JW, Zeng J, Niland BP, Bragg DC, Breakefield XO: Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics. Neurobiol. Dis. 22, 98-111 (2006).
-
(2006)
Neurobiol. Dis
, vol.22
, pp. 98-111
-
-
Hewett, J.W.1
Zeng, J.2
Niland, B.P.3
Bragg, D.C.4
Breakefield, X.O.5
-
82
-
-
20344404225
-
Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells
-
Misbahuddin A, Placzek MR, Taanman JW et al.: Mutant torsinA, which causes early-onset primary torsion dystonia, is redistributed to membranous structures enriched in vesicular monoamine transporter in cultured human SH-SY5Y cells. Mov. Disord. 20, 432-440 (2005).
-
(2005)
Mov. Disord
, vol.20
, pp. 432-440
-
-
Misbahuddin, A.1
Placzek, M.R.2
Taanman, J.W.3
-
83
-
-
19944429223
-
Transgenic mouse model of early-onset DYT1 dystonia
-
Shashidharan P, Sandu D, Potla U et al.: Transgenic mouse model of early-onset DYT1 dystonia. Hum. Mol. Genet. 14, 125-133 (2005).
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 125-133
-
-
Shashidharan, P.1
Sandu, D.2
Potla, U.3
-
84
-
-
34447641630
-
Overexpression of human wildtype torsiaA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities
-
Grundmann K, Reischmann B, Vanhoutte G et al.: Overexpression of human wildtype torsiaA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities. Neurobiol. Dis. 27, 190-206 (2007).
-
(2007)
Neurobiol. Dis
, vol.27
, pp. 190-206
-
-
Grundmann, K.1
Reischmann, B.2
Vanhoutte, G.3
-
85
-
-
20044374519
-
Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation
-
Sharma N, Baxter MG, Petravicz J et al.: Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation. J. Neurosci. 25, 5351-5355 (2005).
-
(2005)
J. Neurosci
, vol.25
, pp. 5351-5355
-
-
Sharma, N.1
Baxter, M.G.2
Petravicz, J.3
-
86
-
-
33749984203
-
Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia
-
Pisani A, Martella G, Tscherter A et al.: Altered responses to dopaminergic D2 receptor activation and N-type calcium currents in striatal cholinergic interneurons in a mouse model of DYT1 dystonia. Neurobiol. Dis. 24, 318-325 (2006).
-
(2006)
Neurobiol. Dis
, vol.24
, pp. 318-325
-
-
Pisani, A.1
Martella, G.2
Tscherter, A.3
-
87
-
-
34447303772
-
Dopamine release is impaired in a mouse model of DYT1 dystonia
-
Balcioglu A, Kim M-O, Sharma N, Cha J-H, Breakefield XO, Standaert DG: Dopamine release is impaired in a mouse model of DYT1 dystonia. J. Neurochem. 102, 783-788 (2007).
-
(2007)
J. Neurochem
, vol.102
, pp. 783-788
-
-
Balcioglu, A.1
Kim, M.-O.2
Sharma, N.3
Cha, J.-H.4
Breakefield, X.O.5
Standaert, D.G.6
-
88
-
-
34250872219
-
Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia
-
Risch N, Bressman S, Senthil G, Ozelius L: Intragenic cis and trans modification of genetic susceptibility in DYT1 torsion dystonia. Am. J. Hum. Genet. 80, 1188-1193 (2007).
-
(2007)
Am. J. Hum. Genet
, vol.80
, pp. 1188-1193
-
-
Risch, N.1
Bressman, S.2
Senthil, G.3
Ozelius, L.4
-
89
-
-
0037159182
-
Clinical findings of a myodonus-dystonia family with two distinct mutations
-
Doherty D, Danisi F, Smith C et al.: Clinical findings of a myodonus-dystonia family with two distinct mutations. Neurology 59, 1244-1246 (2002).
-
(2002)
Neurology
, vol.59
, pp. 1244-1246
-
-
Doherty, D.1
Danisi, F.2
Smith, C.3
-
90
-
-
17944378309
-
Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome
-
Zimprich A, Grabowski M, Asmus F et al.: Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome. Nat. Genet. 29, 66-69 (2001).
-
(2001)
Nat. Genet
, vol.29
, pp. 66-69
-
-
Zimprich, A.1
Grabowski, M.2
Asmus, F.3
-
91
-
-
1842507639
-
The law of mass action applied to neurodegenerative disease: A hypothesis concerning the etiology and pathogenesis of complex diseases
-
Singleton A, Myers A, Hardy J: The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases. Hum. Mol. Genet. 13, R123-R126 (2004).
-
(2004)
Hum. Mol. Genet
, vol.13
-
-
Singleton, A.1
Myers, A.2
Hardy, J.3
-
92
-
-
0034837775
-
-
Olson JM, Goddard KA, Dudek DM: The amyloid precursor protein locus and very-late-onset Alzheimer disease. Am. J. Hum. Genet. 69, 895-899 (2001).
-
Olson JM, Goddard KA, Dudek DM: The amyloid precursor protein locus and very-late-onset Alzheimer disease. Am. J. Hum. Genet. 69, 895-899 (2001).
-
-
-
-
93
-
-
20144387092
-
Multiple regions of α-synuclein are associated with Parkinson's disease
-
Mueller JC, Fuchs J, Hofer A et al.: Multiple regions of α-synuclein are associated with Parkinson's disease. Ann. Neurol. 57, 535-541 (2005).
-
(2005)
Ann. Neurol
, vol.57
, pp. 535-541
-
-
Mueller, J.C.1
Fuchs, J.2
Hofer, A.3
-
94
-
-
0035209184
-
Sporadic - but not variant - Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1
-
Mead S, Mahal SP, Beck J et al.: Sporadic - but not variant - Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1. Am. J. Hum. Genet. 69, 1225-1235 (2001).
-
(2001)
Am. J. Hum. Genet
, vol.69
, pp. 1225-1235
-
-
Mead, S.1
Mahal, S.P.2
Beck, J.3
-
95
-
-
18244406025
-
Torsin A haplotype predisposes to idiopathic dystonia
-
Clarimon J, Asgeirsson H, Singleton A et al.: Torsin A haplotype predisposes to idiopathic dystonia. Ann. Neurol. 57, 765-767 (2005).
-
(2005)
Ann. Neurol
, vol.57
, pp. 765-767
-
-
Clarimon, J.1
Asgeirsson, H.2
Singleton, A.3
-
96
-
-
33845398122
-
Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia
-
Kamm C, Asmus F, Muller J et al.: Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia. Neurology 67, 1857-1859 (2006).
-
(2006)
Neurology
, vol.67
, pp. 1857-1859
-
-
Kamm, C.1
Asmus, F.2
Muller, J.3
-
97
-
-
33645827756
-
Lack of association with torsinA haplotype in German patients with sporadic dystonia
-
Hague S, Klaffke S, Clarimon J et al.: Lack of association with torsinA haplotype in German patients with sporadic dystonia. Neurology 66, 951-952 (2006).
-
(2006)
Neurology
, vol.66
, pp. 951-952
-
-
Hague, S.1
Klaffke, S.2
Clarimon, J.3
-
98
-
-
33847762857
-
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm
-
Clarimon J, Brancati F, Peckham E et al.: Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Mov. Disord. 22, 162-166 (2007).
-
(2007)
Mov. Disord
, vol.22
, pp. 162-166
-
-
Clarimon, J.1
Brancati, F.2
Peckham, E.3
-
99
-
-
0344896723
-
Candidate gene studies in focal dystonia
-
Sibbing D, Asmus F, Konig IR et al.: Candidate gene studies in focal dystonia. Neurology 61, 1097-1101 (2003).
-
(2003)
Neurology
, vol.61
, pp. 1097-1101
-
-
Sibbing, D.1
Asmus, F.2
Konig, I.R.3
-
100
-
-
0031797115
-
The role of DYT1 in primary torsion dystonia in Europe
-
Valente EM, Warner TT, Jarman PR et al.: The role of DYT1 in primary torsion dystonia in Europe. Brain 121, 2335-2339 (1998).
-
(1998)
Brain
, vol.121
, pp. 2335-2339
-
-
Valente, E.M.1
Warner, T.T.2
Jarman, P.R.3
-
101
-
-
0032951850
-
DYT1 mutation in French families with idiopathic torsion dystonia
-
Lebre AS, Durr A, Jedynak P et al.: DYT1 mutation in French families with idiopathic torsion dystonia. Brain 122, 41-45 (1999).
-
(1999)
Brain
, vol.122
, pp. 41-45
-
-
Lebre, A.S.1
Durr, A.2
Jedynak, P.3
-
102
-
-
0033584562
-
A common 3-bp deletion in the DYT1 gene in Russian Families with early-onset torsion dystonia
-
Slominsky PA, Markova ED, Shadrina MI et al.: A common 3-bp deletion in the DYT1 gene in Russian Families with early-onset torsion dystonia. Hum. Mutat. 14,269 (1999).
-
(1999)
Hum. Mutat
, vol.14
, pp. 269
-
-
Slominsky, P.A.1
Markova, E.D.2
Shadrina, M.I.3
-
103
-
-
0033839130
-
Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration
-
Nomura Y, Ikeuchi T, Tsuji S, Segawa M: Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration. Brain Dev. 22, S92-S101 (2000).
-
(2000)
Brain Dev
, vol.22
-
-
Nomura, Y.1
Ikeuchi, T.2
Tsuji, S.3
Segawa, M.4
-
104
-
-
0035953154
-
DYT1 mutation in Japanese patients with primary torsion dystonia
-
Matsumoto S, Nishimura M, Kaji R et al.: DYT1 mutation in Japanese patients with primary torsion dystonia. Neuroreport 12, 793-795 (2001).
-
(2001)
Neuroreport
, vol.12
, pp. 793-795
-
-
Matsumoto, S.1
Nishimura, M.2
Kaji, R.3
-
105
-
-
34249806741
-
Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia
-
Szczaluba K, Jurek M, Milewski M et al.: Clinical characteristics of carriers of a GAG deletion in the DYT1 gene amongst Polish patients with primary dystonia. Eur. J. Neurol. 14, 659-662 (2007).
-
(2007)
Eur. J. Neurol
, vol.14
, pp. 659-662
-
-
Szczaluba, K.1
Jurek, M.2
Milewski, M.3
-
106
-
-
29844432320
-
DYT1 mutation in a cohort of Taiwanese primary dystonias
-
Lin YW, Chang HC, Chou YH et al.: DYT1 mutation in a cohort of Taiwanese primary dystonias. Parkinsonism Relat. Disord. 12, 15-19 (2005).
-
(2005)
Parkinsonism Relat. Disord
, vol.12
, pp. 15-19
-
-
Lin, Y.W.1
Chang, H.C.2
Chou, Y.H.3
-
107
-
-
0028819262
-
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
-
Risch N, de Leon D, Ozelius L et al.: Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat. Genet. 9, 152-159 (1995).
-
(1995)
Nat. Genet
, vol.9
, pp. 152-159
-
-
Risch, N.1
de Leon, D.2
Ozelius, L.3
-
108
-
-
0032803294
-
Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: Evidence for a limited number of founder mutations
-
Valente EM, Povey S, Warner TT, Wood NW, Davis MB: Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations. Ann. Hum. Genet. 63(Pt 1), 1-8 (1999).
-
(1999)
Ann. Hum. Genet
, vol.63
, Issue.PART 1
, pp. 1-8
-
-
Valente, E.M.1
Povey, S.2
Warner, T.T.3
Wood, N.W.4
Davis, M.B.5
-
109
-
-
0041630710
-
Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families
-
Carmona J, Burguera JA, Molla B et al.: Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families. Clin. Genet. 64, 153-159 (2003).
-
(2003)
Clin. Genet
, vol.64
, pp. 153-159
-
-
Carmona, J.1
Burguera, J.A.2
Molla, B.3
-
110
-
-
33748942490
-
Onset and progression of primary torsion dystonia in sporadic and familial cases
-
Elia AE, Filippini G, Bentivoglio AR, Fasano A, Ialongo T, Albanese A: Onset and progression of primary torsion dystonia in sporadic and familial cases. Eur. J. Neurol. 13, 1083-1088 (2006).
-
(2006)
Eur. J. Neurol
, vol.13
, pp. 1083-1088
-
-
Elia, A.E.1
Filippini, G.2
Bentivoglio, A.R.3
Fasano, A.4
Ialongo, T.5
Albanese, A.6
-
111
-
-
0036237062
-
Inherited and de novo mutations in sporadic cases of DYT1-dystonia
-
Hjermind LE, Wardelin LM, Sorensen SA: Inherited and de novo mutations in sporadic cases of DYT1-dystonia. Eur. J. Hum. Genet. 10, 213-216 (2002).
-
(2002)
Eur. J. Hum. Genet
, vol.10
, pp. 213-216
-
-
Hjermind, L.E.1
Wardelin, L.M.2
Sorensen, S.A.3
-
112
-
-
0036523854
-
Frequency of DYT1 mutation in early onset primary dystonia in Italian patients
-
Zorzi G, Garavaglia B, Invernizzi F et al.: Frequency of DYT1 mutation in early onset primary dystonia in Italian patients. Mov. Disord. 17, 407-408 (2002).
-
(2002)
Mov. Disord
, vol.17
, pp. 407-408
-
-
Zorzi, G.1
Garavaglia, B.2
Invernizzi, F.3
-
113
-
-
0034059944
-
Frequency of the DYT1 mutation in primary torsion dystonia without family history
-
Brassat D, Camuzat A, Vidailhet M et al.: Frequency of the DYT1 mutation in primary torsion dystonia without family history. Arch. Neurol. 57, 333-335 (2000).
-
(2000)
Arch. Neurol
, vol.57
, pp. 333-335
-
-
Brassat, D.1
Camuzat, A.2
Vidailhet, M.3
-
114
-
-
0033435220
-
GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany
-
Kamm C, Castelon-Konkiewitz E, Naumann M et al.: GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany. Mov. Disord. 14, 681-683 (1999).
-
(1999)
Mov. Disord
, vol.14
, pp. 681-683
-
-
Kamm, C.1
Castelon-Konkiewitz, E.2
Naumann, M.3
-
115
-
-
4644222574
-
DYT1 mutation in Korean primary dystonia patients
-
Im JH, Ahn TB, Kim KB, Ko SB, Jeon BS: DYT1 mutation in Korean primary dystonia patients. Parkinsonism Relat. Disord. 10, 421-423 (2004).
-
(2004)
Parkinsonism Relat. Disord
, vol.10
, pp. 421-423
-
-
Im, J.H.1
Ahn, T.B.2
Kim, K.B.3
Ko, S.B.4
Jeon, B.S.5
-
116
-
-
33645549424
-
Prevalence study of primary dystonia in Iceland
-
Asgeirsson H, Jakobsson F, Hjaltason H, Jonsdottir H, Sveinbjornsdottir S: Prevalence study of primary dystonia in Iceland. Mov. Disord. 21, 293-298 (2006)
-
(2006)
Mov. Disord
, vol.21
, pp. 293-298
-
-
Asgeirsson, H.1
Jakobsson, F.2
Hjaltason, H.3
Jonsdottir, H.4
Sveinbjornsdottir, S.5
-
117
-
-
34249105158
-
First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population
-
Frédéric M, Lucarz E, Monino C et al.: First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population. Mov. Disord. 22, 884-888 (2007).
-
(2007)
Mov. Disord
, vol.22
, pp. 884-888
-
-
Frédéric, M.1
Lucarz, E.2
Monino, C.3
-
118
-
-
14944359205
-
Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family
-
Moretti P, Hedera P, Wald J, Fink J: Autosomal recessive primary generalized dystonia in two siblings from a consanguineous family. Mov. Disord. 20, 245-247 (2005).
-
(2005)
Mov. Disord
, vol.20
, pp. 245-247
-
-
Moretti, P.1
Hedera, P.2
Wald, J.3
Fink, J.4
-
119
-
-
0029049876
-
Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene
-
Knappskog PM, Flatmark T, Mallet J, Ludecke B, Bartholome K: Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. Hum. Mol. Genet. 4, 1209-1212 (1995).
-
(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
-
120
-
-
0030035985
-
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene
-
Ludecke B, Knappskog PM, Clayton PT et al.: Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene. Hum. Mol. Genet. 5, 1023-1028 (1996).
-
(1996)
Hum. Mol. Genet
, vol.5
, pp. 1023-1028
-
-
Ludecke, B.1
Knappskog, P.M.2
Clayton, P.T.3
-
121
-
-
0028151448
-
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
-
Ichinose H, Ohye T, Takahashi E et al.: Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat. Genet. 8, 236-242 (1994).
-
(1994)
Nat. Genet
, vol.8
, pp. 236-242
-
-
Ichinose, H.1
Ohye, T.2
Takahashi, E.3
-
122
-
-
0034000388
-
Pallidal stimulation for generalized dystonia. Report of three cases
-
Tronnier VM, Fogel W: Pallidal stimulation for generalized dystonia. Report of three cases. J. Neurosurg. 92, 453-456 (2000).
-
(2000)
J. Neurosurg
, vol.92
, pp. 453-456
-
-
Tronnier, V.M.1
Fogel, W.2
-
123
-
-
33846140462
-
KASH-domain proteins in nuclear migration, anchorage and other processes
-
Wilhelmsen K, Ketema M, Truong H, Sonnenberg A: KASH-domain proteins in nuclear migration, anchorage and other processes. J. Cell Sci. 119, 5021-5029 (2006).
-
(2006)
J. Cell Sci
, vol.119
, pp. 5021-5029
-
-
Wilhelmsen, K.1
Ketema, M.2
Truong, H.3
Sonnenberg, A.4
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