-
1
-
-
0000613043
-
Classification and investigation of dystonia
-
London: Butterworths Marsden CD, Fahn S
-
Fahn S Marsden CD Calne DB Classification and investigation of dystonia Movement disorders 2 London: Butterworths Marsden CD, Fahn S 1987:332-358.
-
(1987)
Movement Disorders 2
, pp. 332-358
-
-
Fahn, S.1
Marsden, C.D.2
Calne, D.B.3
-
2
-
-
0023675531
-
Concept and classification of dystonia
-
3041755
-
Fahn S Concept and classification of dystonia Adv Neurol 1988, 50:1-8. 3041755
-
(1988)
Adv Neurol
, vol.50
, pp. 1-8
-
-
Fahn, S.1
-
4
-
-
5644297028
-
Epidemiology of primary dystonia
-
10.1016/S1474-4422(04)00907-X 15488460
-
Defazio G Abbruzzese G Livrea P Berardelli A Epidemiology of primary dystonia Lancet Neurol 2004, 3:673-678. 10.1016/S1474-4422(04)00907-X 15488460
-
(2004)
Lancet Neurol
, vol.3
, pp. 673-678
-
-
Defazio, G.1
Abbruzzese, G.2
Livrea, P.3
Berardelli, A.4
-
5
-
-
0023780930
-
Spasmodic torticollis: Clinical and biologic features and their implications for focal dystonia
-
3400504
-
Duane DD Spasmodic torticollis: Clinical and biologic features and their implications for focal dystonia Adv Neurol 1988, 50:473-492. 3400504
-
(1988)
Adv Neurol
, vol.50
, pp. 473-492
-
-
Duane, D.D.1
-
7
-
-
0025892064
-
Idiopathic cervical dystonia: Clinical characteristics
-
10.1002/mds.870060206 2057004
-
Chan J Brin MF Fahn S Idiopathic cervical dystonia: Clinical characteristics Mov Disord 1991, 6:119-126. 10.1002/mds.870060206 2057004
-
(1991)
Mov Disord
, vol.6
, pp. 119-126
-
-
Chan, J.1
Brin, M.F.2
Fahn, S.3
-
8
-
-
0037356135
-
Focal and segmental primary dystonia in north-western Germany - A clinico-genetic study
-
10.1034/j.1600-0404.2003.01362.x 12614318
-
Maniak S Sieberer M Hagenah J Klein C Vieregge P Focal and segmental primary dystonia in north-western Germany - a clinico-genetic study Acta Neurol Scand 2003, 107:228-232. 10.1034/j.1600-0404.2003.01362.x 12614318
-
(2003)
Acta Neurol Scand
, vol.107
, pp. 228-232
-
-
Maniak, S.1
Sieberer, M.2
Hagenah, J.3
Klein, C.4
Vieregge, P.5
-
9
-
-
32444436509
-
A family study on primary blepharospasm
-
2077605 16421132 10.1136/jnnp.2005.068007
-
Defazio G Martino D Aniello MS Masi G Abbruzzese G Lamberti S Valente EM Brancati F Livrea P Berardelli A A family study on primary blepharospasm J Neurol Neurosurg Psychiatry 2006, 77:252-254. 2077605 16421132 10.1136/ jnnp.2005.068007
-
(2006)
J Neurol Neurosurg Psychiatry
, vol.77
, pp. 252-254
-
-
Defazio, G.1
Martino, D.2
Aniello, M.S.3
Masi, G.4
Abbruzzese, G.5
Lamberti, S.6
Valente, E.M.7
Brancati, F.8
Livrea, P.9
Berardelli, A.10
-
10
-
-
8844237638
-
Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias
-
10.1002/mds.20128 15390016
-
Grundmann K Laubis-Herrmann U Dressler D Vollmer-Haase J Bauer P Stuhrmann M Schulte T Schöls L Topka H Riess O Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias Mov Disord 2004, 19:1294-1297. 10.1002/mds.20128 15390016
-
(2004)
Mov Disord
, vol.19
, pp. 1294-1297
-
-
Grundmann, K.1
Laubis-Herrmann, U.2
Dressler, D.3
Vollmer-Haase, J.4
Bauer, P.5
Stuhrmann, M.6
Schulte, T.7
Schöls, L.8
Topka, H.9
Riess, O.10
-
11
-
-
33947131242
-
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene
-
10.1093/brain/awl340 17282997
-
Brashear A Dobyns WB de Carvalho Aguiar P Borg M Frijns CJ Gollamudi S Green A Guimaraes J Haake BC Klein C Linazasoro G Münchau A Raymond D Riley D Saunders-Pullman R Tijssen MA Webb D Zaremba J Bressman SB Ozelius LJ The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene Brain 2007, 130:828-835. 10.1093/ brain/awl340 17282997
-
(2007)
Brain
, vol.130
, pp. 828-835
-
-
Brashear, A.1
Dobyns, W.B.2
de Carvalho Aguiar, P.3
Borg, M.4
Frijns, C.J.5
Gollamudi, S.6
Green, A.7
Guimaraes, J.8
Haake, B.C.9
Klein, C.10
Linazasoro, G.11
Münchau, A.12
Raymond, D.13
Riley, D.14
Saunders-Pullman, R.15
Tijssen, M.A.16
Webb, D.17
Zaremba, J.18
Bressman, S.B.19
Ozelius, L.J.20
more..
-
12
-
-
41349090135
-
Myoclonus-dystonia: Clinical and electrophysiologic pattern related to SGCE mutations
-
10.1212/01.wnl.0000297516.98574.c0 18362280
-
Roze E Apartis E Clot F Dorison N Thobois S Guyant-Marechal L Tranchant C Damier P Doummar D Bahi-Buisson N André-Obadia N Maltete D Echaniz-Laguna A Pereon Y Beaugendre Y Dupont S De Greslan T Jedynak CP Ponsot G Dussaule JC Brice A Dürr A Vidailhet M Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations Neurology 2008, 70:1010-1016. 10.1212/01.wnl.0000297516.98574.c0 18362280
-
(2008)
Neurology
, vol.70
, pp. 1010-1016
-
-
Roze, E.1
Apartis, E.2
Clot, F.3
Dorison, N.4
Thobois, S.5
Guyant-Marechal, L.6
Tranchant, C.7
Damier, P.8
Doummar, D.9
Bahi-Buisson, N.10
André-Obadia, N.11
Maltete, D.12
Echaniz-Laguna, A.13
Pereon, Y.14
Beaugendre, Y.15
Dupont, S.16
De Greslan, T.17
Jedynak, C.P.18
Ponsot, G.19
Dussaule, J.C.20
Brice, A.21
Dürr, A.22
Vidailhet, M.23
more..
-
13
-
-
16944366666
-
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
-
10.1038/ng0997-40 9288096
-
Ozelius LJ Hewett JW Page CE Bressman SB Kramer PL Shalish C de Leon D Brin MF Raymond D Corey DP Fahn S Risch NJ Buckler AJ Gusella JF Breakefield XO The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein Nat Genet 1997, 17:40-48. 10.1038/ng0997-40 9288096
-
(1997)
Nat 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
-
14
-
-
0031878303
-
Phenotypic expression of the DYT1 mutation: A family with writer's cramp of juvenile onset
-
10.1002/ana.410440119 9667600
-
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 1998, 44:126-128. 10.1002/ana.410440119 9667600
-
(1998)
Ann Neurol
, vol.44
, pp. 126-128
-
-
Gasser, T.1
Windgassen, K.2
Bereznai, B.3
Kabus, C.4
Ludolph, A.C.5
-
15
-
-
0031797115
-
The role of DYT1 in primary torsion dystonia in Europe
-
10.1093/brain/121.12.2335 9874484
-
Valente EM Warner TT Jarman PR Mathen D Fletcher NA Marsden CD Bhatia KP Wood NW The role of DYT1 in primary torsion dystonia in Europe Brain 1998, 121(Pt 12):2335-2339. 10.1093/brain/121.12.2335 9874484
-
(1998)
Brain
, vol.121
, Issue.PART 12
, 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
-
17
-
-
0042922463
-
Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia
-
10.1001/archneur.60.9.1266 12975293
-
Grundmann K Laubis-Herrmann U Bauer I Dressler D Vollmer-Haase J Bauer P Stuhrmann M Schulte T Schöls L Topka H Riess O Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia Arch Neurol 2003, 60:1266-1270. 10.1001/archneur.60.9.1266 12975293
-
(2003)
Arch Neurol
, vol.60
, pp. 1266-1270
-
-
Grundmann, K.1
Laubis-Herrmann, U.2
Bauer, I.3
Dressler, D.4
Vollmer-Haase, J.5
Bauer, P.6
Stuhrmann, M.7
Schulte, T.8
Schöls, L.9
Topka, H.10
Riess, O.11
-
18
-
-
10744223557
-
Mutations in DYT1: Extension of the phenotypic and mutational spectrum
-
14872019
-
Kabakci K Hedrich K Leung JC Mitterer M Vieregge P Lencer R Hagenah J Garrels J Witt K Klostermann F Svetel M Friedman J Kostic V Bressman SB Breakefield XO Ozelius LJ Pramstaller PP Klein C Mutations in DYT1: extension of the phenotypic and mutational spectrum Neurology 2004, 62:395-400. 14872019
-
(2004)
Neurology
, vol.62
, pp. 395-400
-
-
Kabakci, K.1
Hedrich, K.2
Leung, J.C.3
Mitterer, M.4
Vieregge, P.5
Lencer, R.6
Hagenah, J.7
Garrels, J.8
Witt, K.9
Klostermann, F.10
Svetel, M.11
Friedman, J.12
Kostic, V.13
Bressman, S.B.14
Breakefield, X.O.15
Ozelius, L.J.16
Pramstaller, P.P.17
Klein, C.18
-
19
-
-
33750993730
-
Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia
-
10.1002/mds.21056 16874761
-
Gambarin M Valente EM Liberini P Barrano G Bonizzato A Padovani A Moretto G Fiorio M Dallapiccola B Smania N Fiaschi A Tinazzi M Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia Mov Disord 2006, 21:1782-1784. 10.1002/ mds.21056 16874761
-
(2006)
Mov Disord
, vol.21
, pp. 1782-1784
-
-
Gambarin, M.1
Valente, E.M.2
Liberini, P.3
Barrano, G.4
Bonizzato, A.5
Padovani, A.6
Moretto, G.7
Fiorio, M.8
Dallapiccola, B.9
Smania, N.10
Fiaschi, A.11
Tinazzi, M.12
-
20
-
-
56749153892
-
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)
-
10.1136/jnnp.2008.148270 18477710
-
Zirn B Grundmann K Huppke P Puthenparampil J Wolburg H Riess O Muller U Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1) J Neurol Neurosurg Psychiatry 2008, 79:1327-1330. 10.1136/jnnp.2008.148270 18477710
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, pp. 1327-1330
-
-
Zirn, B.1
Grundmann, K.2
Huppke, P.3
Puthenparampil, J.4
Wolburg, H.5
Riess, O.6
Muller, U.7
-
21
-
-
18044403431
-
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
-
10.1007/s100480100111 11523564
-
Leung JC Klein C Friedman J Vieregge P Jacobs H Doheny D Kamm C DeLeon D Pramstaller PP Penney JB Eisengart M Jankovic J Gasser T Bressman SB Corey DP Kramer P Brin MF Ozelius LJ Breakefield XO Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism Neurogenetics 2001, 3:133-143. 10.1007/s100480100111 11523564
-
(2001)
Neurogenetics
, vol.3
, pp. 133-143
-
-
Leung, J.C.1
Klein, C.2
Friedman, J.3
Vieregge, P.4
Jacobs, H.5
Doheny, D.6
Kamm, C.7
DeLeon, D.8
Pramstaller, P.P.9
Penney, J.B.10
Eisengart, M.11
Jankovic, J.12
Gasser, T.13
Bressman, S.B.14
Corey, D.P.15
Kramer, P.16
Brin, M.F.17
Ozelius, L.J.18
Breakefield, X.O.19
-
22
-
-
0036826889
-
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations
-
10.1002/ana.10358 12402271
-
Klein C Liu L Doheny D Kock N Müller B de Carvalho Aguiar P Leung J de Leon D Bressman SB Silverman J Smith C Danisi F Morrison C Walker RH Velickovic M Schwinger E Kramer PL Breakefield XO Brin MF Ozelius LJ Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations Ann Neurol 2002, 52:675-679. 10.1002/ana.10358 12402271
-
(2002)
Ann Neurol
, vol.52
, pp. 675-679
-
-
Klein, C.1
Liu, L.2
Doheny, D.3
Kock, N.4
Müller, B.5
de Carvalho Aguiar, P.6
Leung, J.7
de Leon, D.8
Bressman, S.B.9
Silverman, J.10
Smith, C.11
Danisi, F.12
Morrison, C.13
Walker, R.H.14
Velickovic, M.15
Schwinger, E.16
Kramer, P.L.17
Breakefield, X.O.18
Brin, M.F.19
Ozelius, L.J.20
more..
-
23
-
-
0038359432
-
High-resolution genotyping by amplicon melting analysis using LCGreen
-
10.1373/49.6.853 12765979
-
Wittwer CT Reed GH Gundry CN Vandersteen JG Pryor RJ High-resolution genotyping by amplicon melting analysis using LCGreen Clin Chem 2003, 49:853-60. 10.1373/49.6.853 12765979
-
(2003)
Clin Chem
, vol.49
, pp. 853-860
-
-
Wittwer, C.T.1
Reed, G.H.2
Gundry, C.N.3
Vandersteen, J.G.4
Pryor, R.J.5
-
24
-
-
0142040246
-
Dystonia genotypes, phenotypes, and classification
-
14509661
-
Bressman SB Dystonia genotypes, phenotypes, and classification Adv Neurol 2004, 94:101-107. 14509661
-
(2004)
Adv Neurol
, vol.94
, pp. 101-107
-
-
Bressman, S.B.1
-
25
-
-
0034624938
-
The DYT1 phenotype and guidelines for diagnostic testing
-
10802779
-
Bressman SB Sabatti C Raymond D de Leon D Klein C Kramer PL Brin MF Fahn S Breakefield X Ozelius LJ Risch NJ The DYT1 phenotype and guidelines for diagnostic testing Neurology 2000, 54:1746-1752. 10802779
-
(2000)
Neurology
, vol.54
, pp. 1746-1752
-
-
Bressman, S.B.1
Sabatti, C.2
Raymond, D.3
de Leon, D.4
Klein, C.5
Kramer, P.L.6
Brin, M.F.7
Fahn, S.8
Breakefield, X.9
Ozelius, L.J.10
Risch, N.J.11
-
26
-
-
7144256520
-
De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia
-
10.1093/hmg/7.7.1133 9618171
-
Klein C Brin MF de Leon D Limborska SA Ivanova-Smolenskaya IA Bressman SB Friedman A Markova ED Risch NJ Breakefield XO Ozelius LJ De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia Hum Mol Genet 1998, 7:1133-1136. 10.1093/hmg/ 7.7.1133 9618171
-
(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
-
27
-
-
0036237062
-
Inherited and de novo mutations in sporadic cases of DYT1-dystonia
-
10.1038/sj.ejhg.5200782 11973627
-
Hjermind LE Werdelin LM Sorensen SA Inherited and de novo mutations in sporadic cases of DYT1-dystonia Eur J Hum Genet 2002, 10:213-216. 10.1038/sj.ejhg.5200782 11973627
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 213-216
-
-
Hjermind, L.E.1
Werdelin, L.M.2
Sorensen, S.A.3
-
28
-
-
0032895322
-
Phenotypic variability of the DYT1 mutation in German dystonia patients
-
10.1111/j.1600-0404.1999.tb07356.x 10225357
-
Leube B Kessler KR Ferbert A Ebke M Schwendemann G Erbguth F Benecke R Auburger G Phenotypic variability of the DYT1 mutation in German dystonia patients Acta Neurol Scand 1999, 99:248-251. 10.1111/ j.1600-0404.1999.tb07356.x 10225357
-
(1999)
Acta Neurol Scand
, vol.99
, pp. 248-251
-
-
Leube, B.1
Kessler, K.R.2
Ferbert, A.3
Ebke, M.4
Schwendemann, G.5
Erbguth, F.6
Benecke, R.7
Auburger, G.8
-
29
-
-
0036523711
-
Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm
-
10.1002/mds.10096 11921121
-
Opal P Tintner R Jankovic J Leung J Breakefield XO Friedman J Ozelius L Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm Mov Disord 2002, 17:339-345. 10.1002/mds.10096 11921121
-
(2002)
Mov Disord
, vol.17
, pp. 339-345
-
-
Opal, P.1
Tintner, R.2
Jankovic, J.3
Leung, J.4
Breakefield, X.O.5
Friedman, J.6
Ozelius, L.7
-
30
-
-
0037746661
-
Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature
-
10.1002/mds.10411 12784278
-
Edwards M Wood N Bhatia K Unusual phenotypes in DYT1 dystonia: A report of five cases and a review of the literature Mov Disord 2003, 18:706-711. 10.1002/mds.10411 12784278
-
(2003)
Mov Disord
, vol.18
, pp. 706-711
-
-
Edwards, M.1
Wood, N.2
Bhatia, K.3
-
31
-
-
38949085493
-
Phenotype of the DYT1 mutation in the TOR1A gene in a Polish population of patients with dystonia. A preliminary report
-
18224570
-
Gajos A Piaskowski S Slawek J Ochudło S Opala G Łobińska A Honczarenko K Budrewicz S Koszewicz M Pełszyńska B Liberski PP Bogucki A Phenotype of the DYT1 mutation in the TOR1A gene in a Polish population of patients with dystonia. A preliminary report Neurol Neurochir Pol 2007, 41:487-494. 18224570
-
(2007)
Neurol Neurochir Pol
, vol.41
, pp. 487-494
-
-
Gajos, A.1
Piaskowski, S.2
Slawek, J.3
Ochudło, S.4
Opala, G.5
Łobińska, A.6
Honczarenko, K.7
Budrewicz, S.8
Koszewicz, M.9
Pełszyńska, B.10
Liberski, P.P.11
Bogucki, A.12
-
32
-
-
0028819262
-
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
-
10.1038/ng0295-152 7719342
-
Risch N de Leon D Ozelius L Kramer P Almasy L Singer B Fahn S Breakefield X Bressman S Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population Nat Genet 1995, 9:152-159. 10.1038/ng0295-152 7719342
-
(1995)
Nat Genet
, vol.9
, pp. 152-159
-
-
Risch, N.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
-
33
-
-
34249105158
-
First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population
-
10.1002/mds.21391 17290457
-
Frédéric M Lucarz E Monino C Saquet C Thorel D Claustres M Tuffery-Giraud S Collod-Béroud G First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population Mov Disord 2007, 22:884-888. 10.1002/mds.21391 17290457
-
(2007)
Mov Disord
, vol.22
, pp. 884-888
-
-
Frédéric, M.1
Lucarz, E.2
Monino, C.3
Saquet, C.4
Thorel, D.5
Claustres, M.6
Tuffery-Giraud, S.7
Collod-Béroud, G.8
-
34
-
-
18244406025
-
TorsinA haplotype predisposes to idiopathic dystonia
-
10.1002/ana.20485 15852391
-
Clarimon J Asgeirsson H Singleton A Jakobsson F Hjaltason H Hardy J Sveinbjornsdottir S TorsinA haplotype predisposes to idiopathic dystonia Ann Neurol 2005, 57:765-767. 10.1002/ana.20485 15852391
-
(2005)
Ann Neurol
, vol.57
, pp. 765-767
-
-
Clarimon, J.1
Asgeirsson, H.2
Singleton, A.3
Jakobsson, F.4
Hjaltason, H.5
Hardy, J.6
Sveinbjornsdottir, S.7
-
35
-
-
33845398122
-
Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia
-
10.1212/01.wnl.0000244423.63406.17 17130424
-
Kamm C Asmus F Mueller J Mayer P Sharma M Muller UJ Beckert S Ehling R Illig T Wichmann HE Poewe W Mueller JC Gasser T Strong genetic evidence for association of TOR1A/TOR1B with idiopathic dystonia Neurology 2006, 67:1857-1859. 10.1212/01.wnl.0000244423.63406.17 17130424
-
(2006)
Neurology
, vol.67
, pp. 1857-1859
-
-
Kamm, C.1
Asmus, F.2
Mueller, J.3
Mayer, P.4
Sharma, M.5
Muller, U.J.6
Beckert, S.7
Ehling, R.8
Illig, T.9
Wichmann, H.E.10
Poewe, W.11
Mueller, J.C.12
Gasser, T.13
-
36
-
-
33645827756
-
Lack of association with torsinA haplotype in German patients with sporadic dystonia
-
10.1212/01.wnl.0000203344.43342.18 16567727
-
Hague S Klaffke S Clarimon J Hemmer B Singleton A Kupsch A Bandmann O Lack of association with torsinA haplotype in German patients with sporadic dystonia Neurology 2006, 66:951-952. 10.1212/ 01.wnl.0000203344.43342.18 16567727
-
(2006)
Neurology
, vol.66
, pp. 951-952
-
-
Hague, S.1
Klaffke, S.2
Clarimon, J.3
Hemmer, B.4
Singleton, A.5
Kupsch, A.6
Bandmann, O.7
-
37
-
-
0033454086
-
Genetic testing for early-onset torsion dystonia (DYT1): Introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects
-
10627938
-
Klein C Friedman J Bressman S Vieregge P Brin MF Pramstaller PP De Leon D Hagenah J Sieberer M Fleet C Kiely R Xin W Breakefield XO Ozelius LJ Sims KB Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects Genet Test 1999, 3:323-328. 10627938
-
(1999)
Genet Test
, vol.3
, pp. 323-328
-
-
Klein, C.1
Friedman, J.2
Bressman, S.3
Vieregge, P.4
Brin, M.F.5
Pramstaller, P.P.6
De Leon, D.7
Hagenah, J.8
Sieberer, M.9
Fleet, C.10
Kiely, R.11
Xin, W.12
Breakefield, X.O.13
Ozelius, L.J.14
Sims, K.B.15
-
38
-
-
0033435220
-
GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany
-
10.1002/1531-8257(199907)14:4<681::AID-MDS1020>3.0.CO;2-M 10435508
-
Kamm C Castelon-Konkiewitz E Naumann M Heinen F Brack M Nebe A Ceballos-Baumann A Gasser T GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany Mov Disord 1999, 14:681-683. 10.1002/1531-8257(199907)14:4<681::AID- MDS1020>3.0.CO;2-M 10435508
-
(1999)
Mov Disord
, vol.14
, pp. 681-683
-
-
Kamm, C.1
Castelon-Konkiewitz, E.2
Naumann, M.3
Heinen, F.4
Brack, M.5
Nebe, A.6
Ceballos-Baumann, A.7
Gasser, T.8
-
39
-
-
0034059944
-
Frequency of the DYT1 mutation in primary torsion dystonia without family history
-
10.1001/archneur.57.3.333 10714658
-
Brassat D Camuzat A Vidailhet M Feki I Jedynak P Klap P Agid Y Dürr A Brice A Frequency of the DYT1 mutation in primary torsion dystonia without family history Arch Neurol 2000, 57:333-335. 10.1001/ archneur.57.3.333 10714658
-
(2000)
Arch Neurol
, vol.57
, pp. 333-335
-
-
Brassat, D.1
Camuzat, A.2
Vidailhet, M.3
Feki, I.4
Jedynak, P.5
Klap, P.6
Agid, Y.7
Dürr, A.8
Brice, A.9
-
40
-
-
0033677544
-
The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp
-
10.1002/1531-8257(200011)15:6<1238::AID-MDS1027>3.0.CO;2-Z 11104212
-
Kamm C Naumann M Mueller J Mai N Riedel L Wissel J Gasser T The DYT1 GAG deletion is infrequent in sporadic and familial writer's cramp Mov Disord 2000, 15:1238-1241. 10.1002/ 1531-8257(200011)15:6<1238::AID-MDS1027>3.0.CO;2-Z 11104212]
-
(2000)
Mov Disord
, vol.15
, pp. 1238-1241
-
-
Kamm, C.1
Naumann, M.2
Mueller, J.3
Mai, N.4
Riedel, L.5
Wissel, J.6
Gasser, T.7
-
41
-
-
0034649396
-
The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia
-
11087801
-
Friedman JR Klein C Leung J Woodward H Ozelius LJ Breakefield XO Charness ME The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia Neurology 2000, 55:1417-1418. 11087801
-
(2000)
Neurology
, vol.55
, pp. 1417-1418
-
-
Friedman, J.R.1
Klein, C.2
Leung, J.3
Woodward, H.4
Ozelius, L.J.5
Breakefield, X.O.6
Charness, M.E.7
-
42
-
-
0035788608
-
DYT1 mutation in primary torsion dystonia in a Serbian population
-
10.1007/s004150170045 11757956
-
Major T Svetel M Romac S Kostiæ VS DYT1 mutation in primary torsion dystonia in a Serbian population J Neurol 2001, 248:940-943. 10.1007/s004150170045 11757956
-
(2001)
J Neurol
, vol.248
, pp. 940-943
-
-
Major, T.1
Svetel, M.2
Romac, S.3
Kostiæ, V.S.4
-
43
-
-
0035953154
-
DYT1 mutation in Japanese patients with primary torsion dystonia
-
10.1097/00001756-200103260-00035 11277585
-
Matsumoto S Nishimura M Kaji R Sakamoto T Mezaki T Shimazu H Murase N Shibasaki H DYT1 mutation in Japanese patients with primary torsion dystonia Neuroreport 2001, 12:793-795. 10.1097/00001756-200103260-00035 11277585
-
(2001)
Neuroreport
, vol.12
, pp. 793-795
-
-
Matsumoto, S.1
Nishimura, M.2
Kaji, R.3
Sakamoto, T.4
Mezaki, T.5
Shimazu, H.6
Murase, N.7
Shibasaki, H.8
-
44
-
-
4644222574
-
DYT1 mutation in Korean primary dystonia patients
-
10.1016/j.parkreldis.2004.05.004 15465399
-
Im JH Ahn TB Kim KB Ko SB Jeon BS DYT1 mutation in Korean primary dystonia patients Parkinsonism Relat Disord 2004, 10:421-423. 10.1016/ j.parkreldis.2004.05.004 15465399
-
(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
-
45
-
-
24144472996
-
Clinical and genetic evaluation in a French population presenting with primary focal dystonia
-
10.1002/mds.20398 15726581
-
Dhaenens CM Krystkowiak P Douay X Charpentier P Bele S Destée A Sablonnière B Clinical and genetic evaluation in a French population presenting with primary focal dystonia Mov Disord 2005, 20:822-825. 10.1002/mds.20398 15726581
-
(2005)
Mov Disord
, vol.20
, pp. 822-825
-
-
Dhaenens, C.M.1
Krystkowiak, P.2
Douay, X.3
Charpentier, P.4
Bele, S.5
Destée, A.6
Sablonnière, B.7
-
46
-
-
29844432320
-
DYT1 mutation in a cohort of Taiwanese primary dystonias
-
10.1016/j.parkreldis.2005.08.002 16198613
-
Lin YW Chang HC Chou YH Chen RS Hsu WC Wu WS Weng YH Lu CS DYT1 mutation in a cohort of Taiwanese primary dystonias Parkinsonism Relat Disord 2006, 12:15-19. 10.1016/j.parkreldis.2005.08.002 16198613
-
(2006)
Parkinsonism Relat Disord
, vol.12
, pp. 15-19
-
-
Lin, Y.W.1
Chang, H.C.2
Chou, Y.H.3
Chen, R.S.4
Hsu, W.C.5
Wu, W.S.6
Weng, Y.H.7
Lu, C.S.8
-
47
-
-
33746274737
-
DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West
-
10.1016/j.jns.2006.03.009 16631205
-
Jamora RD Tan EK Liu CP Kathirvel P Burgunder JM Tan LC DYT1 mutations amongst adult primary dystonia patients in Singapore with review of literature comparing East and West J Neurol Sci 2006, 247:35-37. 10.1016/ j.jns.2006.03.009 16631205
-
(2006)
J Neurol Sci
, vol.247
, pp. 35-37
-
-
Jamora, R.D.1
Tan, E.K.2
Liu, C.P.3
Kathirvel, P.4
Burgunder, J.M.5
Tan, L.C.6
-
48
-
-
33746922348
-
Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients
-
10.1111/j.1600-0404.2006.00663.x 16911351
-
Naiya T Biswas A Neogi R Datta S Misra AK Das SK Ray K Ray J Clinical characterization and evaluation of DYT1 gene in Indian primary dystonia patients Acta Neurol Scand 2006, 114:210-215. 10.1111/ j.1600-0404.2006.00663.x 16911351
-
(2006)
Acta Neurol Scand
, vol.114
, pp. 210-215
-
-
Naiya, T.1
Biswas, A.2
Neogi, R.3
Datta, S.4
Misra, A.K.5
Das, S.K.6
Ray, K.7
Ray, J.8
-
49
-
-
42249104253
-
DYT1 mutations amongst early onset primary dystonia patients in China
-
10.1016/S1001-9294(09)60008-0 18437909
-
Yang JF Li JY Li YJ Wu T Zhang YL Chen B DYT1 mutations amongst early onset primary dystonia patients in China Chin Med Sci J 2008, 23:38-43. 10.1016/S1001-9294(09)60008-0 18437909
-
(2008)
Chin Med Sci J
, vol.23
, pp. 38-43
-
-
Yang, J.F.1
Li, J.Y.2
Li, Y.J.3
Wu, T.4
Zhang, Y.L.5
Chen, B.6
-
50
-
-
24144499879
-
A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: Cystic fibrosis transmembrane conductance regulator gene as a model
-
10.1309/BF3MLJN8J527MWQY 16191501
-
Chou LS Lyon E Wittwer CT A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: Cystic fibrosis transmembrane conductance regulator gene as a model Am J Clin Pathol 2005, 124:330-338. 10.1309/ BF3MLJN8J527MWQY 16191501
-
(2005)
Am J Clin Pathol
, vol.124
, pp. 330-338
-
-
Chou, L.S.1
Lyon, E.2
Wittwer, C.T.3
-
51
-
-
34250658870
-
High-resolution DNA melting analysis for simple and efficient molecular diagnostics
-
10.2217/14622416.8.6.597 17559349
-
Reed GH Kent JO Wittwer CT High-resolution DNA melting analysis for simple and efficient molecular diagnostics Pharmacogenomics 2007, 8:597-608. 10.2217/14622416.8.6.597 17559349
-
(2007)
Pharmacogenomics
, vol.8
, pp. 597-608
-
-
Reed, G.H.1
Kent, J.O.2
Wittwer, C.T.3
-
52
-
-
35648961269
-
Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis
-
10.1373/clinchem.2007.092361 17890437
-
Montgomery J Wittwer CT Kent JO Zhou L Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis Clin Chem 2007, 53:1891-1898. 10.1373/ clinchem.2007.092361 17890437
-
(2007)
Clin Chem
, vol.53
, pp. 1891-1898
-
-
Montgomery, J.1
Wittwer, C.T.2
Kent, J.O.3
Zhou, L.4
-
53
-
-
33847407062
-
Mutation scanning the GJB1 gene with high-resolution melting analysis: Implications for mutation scanning of genes for Charcot-Marie-Tooth disease
-
10.1373/clinchem.2006.080010 17200131
-
Kennerson ML Warburton T Nelis E Brewer M Polly P De Jonghe P Timmerman V Nicholson GA Mutation scanning the GJB1 gene with high-resolution melting analysis: Implications for mutation scanning of genes for Charcot-Marie-Tooth disease Clin Chem 2007, 53:349-352. 10.1373/ clinchem.2006.080010 17200131
-
(2007)
Clin Chem
, vol.53
, pp. 349-352
-
-
Kennerson, M.L.1
Warburton, T.2
Nelis, E.3
Brewer, M.4
Polly, P.5
De Jonghe, P.6
Timmerman, V.7
Nicholson, G.A.8
-
54
-
-
44849123232
-
Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: Comparison of two high-resolution melting platforms
-
10.1373/clinchem.2007.098764 18403564
-
De Leeneer K Coene I Poppe B De Paepe A Claes K Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: Comparison of two high-resolution melting platforms Clin Chem 2008, 54:982-989. 10.1373/clinchem.2007.098764 18403564
-
(2008)
Clin Chem
, vol.54
, pp. 982-989
-
-
De Leeneer, K.1
Coene, I.2
Poppe, B.3
De Paepe, A.4
Claes, K.5
-
55
-
-
4644245816
-
Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis
-
10.1373/clinchem.2003.029751 15308590
-
Reed GH Wittwer CT Sensitivity and specificity of single-nucleotide polymorphism scanning by high-resolution melting analysis Clin Chem 2004, 50:1748-1754. 10.1373/clinchem.2003.029751 15308590
-
(2004)
Clin Chem
, vol.50
, pp. 1748-1754
-
-
Reed, G.H.1
Wittwer, C.T.2
|