-
1
-
-
0031603819
-
Classification of dystonia
-
Philadelphia: Lippincott-Raven
-
Fahn S, Bressman SB, Marsden CD. Classification of dystonia. In: Dystonia 3, Adv Neurol, vol. 78. Philadelphia: Lippincott-Raven; 1998. p 1–10.
-
(1998)
Dystonia 3, Adv Neurol
, vol.78
, pp. 1-10
-
-
Fahn, S1
Bressman, SB2
Marsden, CD.3
-
2
-
-
84921423176
-
The epidemiology of primary and secondary dystonia
-
second edition. New York, London: Informahealthcare
-
Defazio G, Macerollo A. The epidemiology of primary and secondary dystonia. In: Handbook of Dystonia, second edition. New York, London: Informahealthcare; 2012. p 11–19.
-
(2012)
Handbook of Dystonia
, pp. 11-19
-
-
Defazio, G1
Macerollo, A.2
-
3
-
-
0026099811
-
A genetic study of idiopathic focal dystonia
-
Waddy HM, Fletcher NA, Harding AE, Marsden CD. A genetic study of idiopathic focal dystonia. Ann Neurol 1991;29:320–324, doi: http://dx.doi.org/10.1002/ana.410290315.
-
(1991)
Ann Neurol
, vol.29
, pp. 320-324
-
-
Waddy, HM1
Fletcher, NA2
Harding, AE3
Marsden, CD.4
-
4
-
-
0027482096
-
Genetic contribution to idiopathic adult-onset blepharospasm and cranial cervical dystonia
-
Defazio G, Livrea P, Guanti G, et al. Genetic contribution to idiopathic adult-onset blepharospasm and cranial cervical dystonia. Eur Neurol 1993;33: 345–350, doi: http://dx.doi.org/10.1159/000116969.
-
(1993)
Eur Neurol
, vol.33
, pp. 345-350
-
-
Defazio, G1
Livrea, P2
Guanti, G3
-
5
-
-
0029052823
-
A genetic study of idiopathic focal dystonias
-
Stojanovic M, Cvetkovic D, Kostic VS. A genetic study of idiopathic focal dystonias. J Neurol 1995;242;508–510.
-
(1995)
J Neurol
, vol.242
, pp. 508-510
-
-
Stojanovic, M1
Cvetkovic, D2
Kostic, VS.3
-
6
-
-
0030693859
-
Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family
-
Leube B, Kessler KR, Goecke T, et al. Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family. Mov Disord 1997;12:1000–1006, doi: http://dx.doi.org/10. 1002/mds.870120625.
-
(1997)
Mov Disord
, vol.12
, pp. 1000-1006
-
-
Leube, B1
Kessler, KR2
Goecke, T3
-
7
-
-
0037356135
-
Focal and segmental primary dystonia in north-western Germany–a clinico-genetic study
-
Maniak S, Sieberer M, Hagenah J, et al. Focal and segmental primary dystonia in north-western Germany–a clinico-genetic study. Acta Neurol Scand 2003;107:228–232, doi: http://dx.doi.org/10.1034/j.1600-0404.2003.01362.x.
-
(2003)
Acta Neurol Scand
, vol.107
, pp. 228-232
-
-
Maniak, S1
Sieberer, M2
Hagenah, J3
-
8
-
-
24144472996
-
Clinical and genetic evaluation in a French population presenting with primary focal dystonia
-
Dhaenens CM, Krystkowiak P, Douay X, et al. Clinical and genetic evaluation in a French population presenting with primary focal dystonia. Mov Disord 2005;20:822–825, doi: http://dx.doi.org/10.1002/mds.20398.
-
(2005)
Mov Disord
, vol.20
, pp. 822-825
-
-
Dhaenens, CM1
Krystkowiak, P2
Douay, X3
-
9
-
-
32444436509
-
A family study on primary blepharospasm
-
Defazio G, Martino D, Aniello MS, et al. A family study on primary blepharospasm. J Neurol Neurosurg Psychiatry 2006;77:252–254, doi: http://dx. doi.org/10.1136/jnnp.2005.068007.
-
(2006)
J Neurol Neurosurg Psychiatry
, vol.77
, pp. 252-254
-
-
Defazio, G1
Martino, D2
Aniello, MS3
-
10
-
-
33748942490
-
Onset and progression of primary torsion dystonia in sporadic and familial cases
-
Elia AE, Filippini G, Bentivoglio AR, et al. Onset and progression of primary torsion dystonia in sporadic and familial cases. Eur J Neurol 2006;13: 1083–1088, doi: http://dx.doi.org/10.1111/j.1468-1331.2006.01387.x.
-
(2006)
Eur J Neurol
, vol.13
, pp. 1083-1088
-
-
Elia, AE1
Filippini, G2
Bentivoglio, AR3
-
11
-
-
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 2000;54:1746–1752, doi: http://dx. doi.org/10.1212/WNL.54.9.1746.
-
(2000)
Neurology
, vol.54
, pp. 1746-1752
-
-
Bressman, SB1
Sabatti, C2
Raymond, D3
-
12
-
-
0027930349
-
The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews
-
Kramer PL, Heiman GA, Gasser T, et al. The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet 1994;55:468–475.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 468-475
-
-
Kramer, PL1
Heiman, GA2
Gasser, T3
-
13
-
-
61349178832
-
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
-
Fuchs T, Gavarini S, Saunders-Pullman R, et al. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009;41:286–288, doi: http://dx.doi.org/10.1038/ng.304.
-
(2009)
Nat Genet
, vol.41
, pp. 286-288
-
-
Fuchs, T1
Gavarini, S2
Saunders-Pullman, R3
-
14
-
-
27844469151
-
Three brothers with a very late onset writer’s cramp
-
Bhidayasiri R, Jen JC, Baloh RW. Three brothers with a very late onset writer’s cramp. Mov Disord 2005;10:1375–1377, doi: http://dx.doi.org/10. 1002/mds.20568.
-
(2005)
Mov Disord
, vol.10
, pp. 1375-1377
-
-
Bhidayasiri, R1
Jen, JC2
Baloh, RW.3
-
15
-
-
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, et al. 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 1996;5:1673–1677, doi: http://dx.doi.org/10.1093/hmg/5.10.1673.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1673-1677
-
-
Leube, B1
Rudnicki, D2
Ratzlaff, T3
-
16
-
-
0142040240
-
Penetrance and expression of dystonia genes
-
Philadelphia: Lippincott Williams & Wilkins
-
Saunders Pullman R, Shriberg J, Shanker V, et al. Penetrance and expression of dystonia genes. In: Dystonia 4, Adv Neurol, vol. 94. Philadelphia: Lippincott Williams & Wilkins; 2004. p 121–125.
-
(2004)
Dystonia 4, Adv Neurol
, vol.94
, pp. 121-125
-
-
Saunders Pullman, R1
Shriberg, J2
Shanker, V3
-
17
-
-
0036523847
-
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia
-
Brancati F, Defazio G, Caputo V, et al. Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. Mov Disord 2002;17:392–397, doi: http://dx.doi.org/10.1002/mds.10077.
-
(2002)
Mov Disord
, vol.17
, pp. 392-397
-
-
Brancati, F1
Defazio, G2
Caputo, V3
-
18
-
-
85202586913
-
A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia
-
Munchau A, Valente EM, Davis MB, et al. A Yorkshire family with adult-onset cranio-cervical primary torsion dystonia. Mov Disord 2000;15:954– 959, doi: http://dx.doi.org/10.1002/1531-8257(200009)15:5,954::AID-MDS1028.3.0.CO;2-I.
-
(2000)
Mov Disord
, vol.15
, pp. 954-959
-
-
Munchau, A1
Valente, EM2
Davis, MB3
-
19
-
-
0344837904
-
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene
-
Defazio G, Brancati F, Valente EM, et al. Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. Mov Disord 2003;18:207–212, doi: http://dx.doi.org/10.1002/mds.10314.
-
(2003)
Mov Disord
, vol.18
, pp. 207-212
-
-
Defazio, G1
Brancati, F2
Valente, EM3
-
20
-
-
0026043375
-
Intrafamilial correlation in idiopathic torsion dystonia
-
Fletcher NA, Harding AE, Marsden CD. Intrafamilial correlation in idiopathic torsion dystonia. Mov Disord 1991;6:310–314, doi: http://dx.doi.org/10.1002/mds.870060407.
-
(1991)
Mov Disord
, vol.6
, pp. 310-314
-
-
Fletcher, NA1
Harding, AE2
Marsden, CD.3
-
21
-
-
0021149887
-
Dystonia in 61-year-old identical twins: observations over 45 years
-
Eldridge R, Ince SE, Chernow B, et al. Dystonia in 61-year-old identical twins: observations over 45 years. Ann Neurol 1984;16:356–358, doi: http://dx. doi.org/10.1002/ana.410160313.
-
(1984)
Ann Neurol
, vol.16
, pp. 356-358
-
-
Eldridge, R1
Ince, SE2
Chernow, B3
-
22
-
-
0035412913
-
Cervical dystonia in monozygotic twins: case report and review of the literature
-
Wunderlich S, Reiners K, Gasser T, et al. Cervical dystonia in monozygotic twins: case report and review of the literature. Mov Disord 2001; 16:714–718, doi: http://dx.doi.org/10.1002/mds.1128.
-
(2001)
Mov Disord
, vol.16
, pp. 714-718
-
-
Wunderlich, S1
Reiners, K2
Gasser, T3
-
23
-
-
0026068325
-
A case-control study of idiopathic torsion dystonia
-
Fletcher NA, Harding AE, Marsden CD. A case-control study of idiopathic torsion dystonia. Mov Disord 1991;6:304–309, doi: http://dx.doi.org/10.1002/mds.870060406.
-
(1991)
Mov Disord
, vol.6
, pp. 304-309
-
-
Fletcher, NA1
Harding, AE2
Marsden, CD.3
-
24
-
-
0031971433
-
Possible risk factors for primary adult-onset dystonia, a case-control investigation by the Italian Movement Disorders Study Group
-
Defazio G, Berardelli A, Abbruzzese G et al. Possible risk factors for primary adult-onset dystonia, a case-control investigation by the Italian Movement Disorders Study Group. J Neurol Neurosurg Psychiatry 1998;64:25– 32, doi: http://dx.doi.org/10.1136/jnnp.64.1.25.
-
(1998)
J Neurol Neurosurg Psychiatry
, vol.64
, pp. 25-32
-
-
Defazio, G1
Berardelli, A2
Abbruzzese, G3
-
25
-
-
64849092456
-
Case-control study of writer’s cramp
-
Roze E, Soumaré A, Pironneau I, et al. Case-control study of writer’s cramp. Brain 2009;132:756–764, doi: http://dx.doi.org/10.1093/brain/awn363.
-
(2009)
Brain
, vol.132
, pp. 756-764
-
-
Roze, E1
Soumaré, A2
Pironneau, I3
-
26
-
-
84862815202
-
Case-control study of risk factors for spasmodic dysphonia: A comparison with other voice disorders
-
Tanner K, Roy N, Merrill RM, et al. Case-control study of risk factors for spasmodic dysphonia: A comparison with other voice disorders. Laryngoscope 2012; 122: 1082–1092, doi: http://dx.doi.org/10.1002/lary. 22471.
-
(2012)
Laryngoscope
, vol.122
, pp. 1082-1092
-
-
Tanner, K1
Roy, N2
Merrill, RM3
-
27
-
-
33644877267
-
Benign essential blepharospasm: risk factors with reference to hemifacial spasm
-
Hall TA, McGwin G Jr, Searcey K, et al. Benign essential blepharospasm: risk factors with reference to hemifacial spasm. J Neuroophthalmol 2005;25:280–285, doi: http://dx.doi.org/10.1097/01.wno. 0000189063.43423.04.
-
(2005)
J Neuroophthalmol
, vol.25
, pp. 280-285
-
-
Hall, TA1
McGwin, G2
Searcey, K3
-
28
-
-
33847715123
-
Head trauma in primary cranial dystonias: a multicentre case-control study
-
Martino D, Defazio G, Abbruzzese G, et al. Head trauma in primary cranial dystonias: a multicentre case-control study. J Neurol Neurosurg Psychiatry 2007;78:260–263, doi: http://dx.doi.org/10.1136/jnnp.2006.103713.
-
(2007)
J Neurol Neurosurg Psychiatry
, vol.78
, pp. 260-263
-
-
Martino, D1
Defazio, G2
Abbruzzese, G3
-
29
-
-
0034747633
-
Can peripheral trauma induce dystonia? Yes
-
Jankovic J. Can peripheral trauma induce dystonia? Yes. Mov Disord 2001; 16:7–12, doi: http://dx.doi.org/10.1002/1531-8257(200101)16:1,7::AID-MDS1005.3.0.CO;2-0.
-
(2001)
Mov Disord
, vol.16
, pp. 7-12
-
-
Jankovic, J.1
-
30
-
-
0033429568
-
Atypical and typical cranial dystonia following dental procedures
-
Schrag A, Bhatia KP, Quinn NP, et al. Atypical and typical cranial dystonia following dental procedures. Mov Disord 1999;14:492–496, doi: http://dx.doi.org/10.1002/1531-8257(199905)14:3,492::AID-MDS1018.3.0.CO;2-4.
-
(1999)
Mov Disord
, vol.14
, pp. 492-496
-
-
Schrag, A1
Bhatia, KP2
Quinn, NP3
-
31
-
-
33644951548
-
Relationship between eye symptoms and blepharospasm: A multicenter case-control study
-
Martino D, Defazio G, Alessio G, et al. Relationship between eye symptoms and blepharospasm: A multicenter case-control study. Mov Disord 2005;20:1564–1570, doi: http://dx.doi.org/10.1002/mds.20635.
-
(2005)
Mov Disord
, vol.20
, pp. 1564-1570
-
-
Martino, D1
Defazio, G2
Alessio, G3
-
32
-
-
0030855759
-
Dry eye and Meige’s syndrome
-
Tsubota K, Fujihara T, Kaido M, et al. Dry eye and Meige’s syndrome. Br J Ophthalmol 1997;81:439–442, doi: http://dx.doi.org/10.1136/bjo.81.6.439.
-
(1997)
Br J Ophthalmol
, vol.81
, pp. 439-442
-
-
Tsubota, K1
Fujihara, T2
Kaido, M3
-
33
-
-
0242288089
-
Epidemiology of primary dystonias in Japan: comparison with western countries
-
Matsumoto S, Nishimura M, Shibasaki H, et al. Epidemiology of primary dystonias in Japan: comparison with western countries. Mov Disord 2003;18:1196–1198, doi: http://dx.doi.org/10.1002/mds.10480.
-
(2003)
Mov Disord
, vol.18
, pp. 1196-1198
-
-
Matsumoto, S1
Nishimura, M2
Shibasaki, H3
-
34
-
-
80055082869
-
Environmental risk factors and clinical phenotype in familial and sporadic primary blepharospasm
-
Defazio G, Abbruzzese G, Aniello MS, et al. Environmental risk factors and clinical phenotype in familial and sporadic primary blepharospasm. Neurology 2011;77:631–637, doi: http://dx.doi.org/10.1212/WNL. 0b013e3182299e13.
-
(2011)
Neurology
, vol.77
, pp. 631-637
-
-
Defazio, G1
Abbruzzese, G2
Aniello, MS3
-
35
-
-
0036160314
-
Risk factors and demographics in patients with spasmodic dysphonia
-
Schweinfurth JM, Billante M, Courey MS. Risk factors and demographics in patients with spasmodic dysphonia. Laryngoscope 2002;112:220–223, doi: http://dx.doi.org/10.1097/00005537-200202000-00004.
-
(2002)
Laryngoscope
, vol.112
, pp. 220-223
-
-
Schweinfurth, JM1
Billante, M2
Courey, MS.3
-
36
-
-
0037465831
-
Primary cervical dystonia and scoliosis. A multicenter case-control study
-
Defazio G, Abbruzzese G, Girlanda P, et al. Primary cervical dystonia and scoliosis. A multicenter case-control study. Neurology 2003,60:1012–1015.
-
(2003)
Neurology
, vol.60
, pp. 1012-1015
-
-
Defazio, G1
Abbruzzese, G2
Girlanda, P3
-
37
-
-
0002146305
-
Frequency of scoliosis in cervical dystonia patients and their relatives
-
(suppl 2)
-
Duane DD. Frequency of scoliosis in cervical dystonia patients and their relatives. Mov Disord 1998;13(suppl 2):99.
-
(1998)
Mov Disord
, vol.13
, pp. 99
-
-
Duane, DD.1
-
38
-
-
34247191156
-
Are nongenetic triggers for dystonia type-specific? A study exploring scoliosis in blepharospasm
-
Martino D, Defazio G, Abbruzzese G, et al. Are nongenetic triggers for dystonia type-specific? A study exploring scoliosis in blepharospasm. Mov Disord 2007;22:576–578, doi: http://dx.doi.org/10.1002/mds.21322.
-
(2007)
Mov Disord
, vol.22
, pp. 576-578
-
-
Martino, D1
Defazio, G2
Abbruzzese, G3
-
39
-
-
34547635624
-
Influence of coffee drinking and cigarette smoking on the risk of primary late onset blepharospasm: evidence from a multicentre case control study
-
Byl N, Merzenich MM, Jenkins WM. A primate genesis model of focal
-
Defazio G, Martino D, Abbruzzese G, et al. Influence of coffee drinking and cigarette smoking on the risk of primary late onset blepharospasm: evidence from a multicentre case control study. J Neurol Neurosurg Psychiatry 2007;78:877– 879, doi: http://dx.doi.org/10.1136/jnnp.2007.119891. 40. Byl N, Merzenich MM, Jenkins WM. A primate genesis model of focal
-
(2007)
J Neurol Neurosurg Psychiatry
, vol.78
, pp. 877-879
-
-
Defazio, G1
Martino, D2
Abbruzzese, G3
-
40
-
-
0029831656
-
dystonia and repetitive strain injury: I. Learning-induced dedifferentiation of the representation of the hand in the primary somatosensory cortex in adult monkeys
-
dystonia and repetitive strain injury: I. Learning-induced dedifferentiation of the representation of the hand in the primary somatosensory cortex in adult monkeys. Neurology 1996;47:508–520, doi: http://dx.doi.org/10.1212/WNL.47. 2.508.
-
(1996)
Neurology
, vol.47
, pp. 508-520
-
-
-
41
-
-
0345138987
-
Abnormal associative plasticity of the human motor cortex in writer’s cramp
-
Quartarone A, Bagnato S, Rizzo V, et al. Abnormal associative plasticity of the human motor cortex in writer’s cramp. Brain 2003;126:2586–2596, doi: http://dx.doi.org/10.1093/brain/awg273.
-
(2003)
Brain
, vol.126
, pp. 2586-2596
-
-
Quartarone, A1
Bagnato, S2
Rizzo, V3
-
42
-
-
32544432663
-
Enhanced long-term potentiation-like plasticity of the trigeminal blink reflex circuit in blepharospasm
-
Quartarone A, Sant’Angelo A, Battaglia F, et al. Enhanced long-term potentiation-like plasticity of the trigeminal blink reflex circuit in blepharospasm. J Neurosci 2006;26:716–721, doi: http://dx.doi.org/10.1523/JNEUROSCI. 3948-05.2006.
-
(2006)
J Neurosci
, vol.26
, pp. 716-721
-
-
Quartarone, A1
Sant’Angelo, A2
Battaglia, F3
-
43
-
-
38049064385
-
Adenosine and dopamine receptor interactions in striatum and caffeine-induced behavioral activation
-
Xie X, Ramkumar V, Toth LA. Adenosine and dopamine receptor interactions in striatum and caffeine-induced behavioral activation. Comp Med 2007;57:538–545.
-
(2007)
Comp Med
, vol.57
, pp. 538-545
-
-
Xie, X1
Ramkumar, V2
Toth, LA.3
-
44
-
-
33750298341
-
Pathophysiology of dystonia
-
Hallett M. Pathophysiology of dystonia. J Neural Transm Suppl 2006;70: 485–488, doi: http://dx.doi.org/10.1007/978-3-211-45295-0_72.
-
(2006)
J Neural Transm Suppl
, vol.70
, pp. 485-488
-
-
Hallett, M.1
-
45
-
-
84856961771
-
Eye symptoms in relatives of patients with primary adult-onset dystonia
-
Defazio G, Abbruzzese G, Aniello MS, et al. Eye symptoms in relatives of patients with primary adult-onset dystonia. Mov Disord 2012;27:305–307, doi: http://dx.doi.org/10.1002/mds.24026.
-
(2012)
Mov Disord
, vol.27
, pp. 305-307
-
-
Defazio, G1
Abbruzzese, G2
Aniello, MS3
|