-
1
-
-
0021476278
-
The varied clinical expressions of dystonia
-
Fahn, S. The varied clinical expressions of dystonia. Neurol. Clin. 2, 541-554 (1984).
-
(1984)
Neurol. Clin.
, vol.2
, pp. 541-554
-
-
Fahn, S.1
-
2
-
-
70449986001
-
Is this dystonia?
-
Albanese, A. & Lalli, S. Is this dystonia? Mov. Disord. 24, 1725-1731 (2009).
-
(2009)
Mov. Disord.
, vol.24
, pp. 1725-1731
-
-
Albanese, A.1
Lalli, S.2
-
3
-
-
77953344798
-
Secondary dystonia-clinical clues and syndromic associations
-
Schneider, S. A. & Bhatia, K. P. Secondary dystonia-clinical clues and syndromic associations. Eur. J. Neurol. 17, 52-57 (2010).
-
(2010)
Eur. J. Neurol.
, vol.17
, pp. 52-57
-
-
Schneider, S.A.1
Bhatia, K.P.2
-
4
-
-
0036869771
-
Dystonia: A disorder of motor programming or motor execution?
-
DOI 10.1002/mds.10284
-
Kanovsky, P. Dystonia: a disorder of motor programming or motor execution? Mov. Disord. 17, 1143-1147 (2002). (Pubitemid 36041327)
-
(2002)
Movement Disorders
, vol.17
, Issue.6
, pp. 1143-1147
-
-
Kanovsky, P.1
-
5
-
-
0038713569
-
Idiopathic focal dystonia: A disorder of muscle spindle afferent processing?
-
DOI 10.1093/brain/120.12.2179
-
Grunewald, R. A., Yoneda, Y., Shipman, J. M. & Sagar, H. J. Idiopathic focal dystonia: a disorder of muscle spindle afferent processing? Brain 120, 2179-2185 (1997). (Pubitemid 28014594)
-
(1997)
Brain
, vol.120
, Issue.12
, pp. 2179-2185
-
-
Grunewald, R.A.1
Yoneda, Y.2
Shipman, J.M.3
Sagar, H.J.4
-
6
-
-
0035412938
-
Somatosensory disinhibition in dystonia
-
DOI 10.1002/mds.1142
-
Frasson, E. et al. Somatosensory disinhibition in dystonia. Mov. Disord. 16, 674-682 (2001). (Pubitemid 36040847)
-
(2001)
Movement Disorders
, vol.16
, Issue.4
, pp. 674-682
-
-
Frasson, E.1
Priori, A.2
Bertolasi, L.3
Mauguiere, F.4
Fiaschi, A.5
Tinazzi, M.6
-
7
-
-
0031974946
-
Alterations of motor cortical inhibition in patients with dystonia
-
DOI 10.1002/mds.870130123
-
Rona, S., Berardelli, A., Vacca, L., Inghilleri, M. & Manfredi, M. Alterations of motor cortical inhibition in patients with dystonia. Mov. Disord. 13, 118-124 (1998). (Pubitemid 28029862)
-
(1998)
Movement Disorders
, vol.13
, Issue.1
, pp. 118-124
-
-
Rona, S.1
Berardelli, A.2
Vacca, L.3
Inghilleri, M.4
Manfredi, M.5
-
8
-
-
0035412898
-
Sensory function of basal ganglia
-
DOI 10.1002/mds.1137
-
Kaji, R. & Murase, N. Sensory function of basal ganglia. Mov. Disord. 16, 593-594 (2001). (Pubitemid 36040837)
-
(2001)
Movement Disorders
, vol.16
, Issue.4
, pp. 593-594
-
-
Kaji, R.1
Murase, N.2
-
9
-
-
0029164597
-
Is dystonia a sensory disorder?
-
Hallett, M. Is dystonia a sensory disorder? Ann. Neurol. 38, 139-140 (1995).
-
(1995)
Ann. Neurol.
, vol.38
, pp. 139-140
-
-
Hallett, M.1
-
10
-
-
68249092884
-
Does neurophysiological testing provide the information we need to improve the clinical management of primary dystonia?
-
Tinazzi, M., Squintani, G. & Berardelli, A. Does neurophysiological testing provide the information we need to improve the clinical management of primary dystonia? Clin. Neurophysiol. 120, 1424-1432 (2009).
-
(2009)
Clin. Neurophysiol.
, vol.120
, pp. 1424-1432
-
-
Tinazzi, M.1
Squintani, G.2
Berardelli, A.3
-
11
-
-
0036212214
-
The genetics of primary dystonias and related disorders
-
Nemeth, A. H. The genetics of primary dystonias and related disorders. Brain 125, 695-721 (2002). (Pubitemid 34279768)
-
(2002)
Brain
, vol.125
, Issue.4
, pp. 695-721
-
-
Nemeth, A.H.1
-
12
-
-
33744728066
-
A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: Report of an EFNS/MDS-ES Task Force
-
DOI 10.1111/j.1468-1331.2006.01537.x
-
Albanese, A. et al. A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force. Eur. J. Neurol. 13, 433-444 (2006). (Pubitemid 43823355)
-
(2006)
European Journal of Neurology
, vol.13
, Issue.5
, pp. 433-444
-
-
Albanese, A.1
Barnes, M.P.2
Bhatia, K.P.3
Fernandez-Alvarez, E.4
Filippini, G.5
Gasser, T.6
Krauss, J.K.7
Newton, A.8
Rektor, I.9
Savoiardo, M.10
Valls-Sole, J.11
-
13
-
-
5644297028
-
Epidemiology of primary dystonia
-
DOI 10.1016/S1474-4422(04)00907-X, PII S147444220400907X
-
Defazio, G., Abbruzzese, G., Livrea, P. & Berardelli, A. Epidemiology of primary dystonia. Lancet Neurol. 3, 673-678 (2004). (Pubitemid 39370637)
-
(2004)
Lancet Neurology
, vol.3
, Issue.11
, pp. 673-678
-
-
Defazio, G.1
Abbruzzese, G.2
Livrea, P.3
Berardelli, A.4
-
15
-
-
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
-
16
-
-
0033745810
-
A prevalence study of primary dystonia in eight European countries
-
A prevalence study of primary dystonia in eight European countries. J. Neurol. 247, 787-792 (2000).
-
(2000)
J. Neurol.
, vol.247
, pp. 787-792
-
-
-
17
-
-
0026486332
-
Symptomatic dystonia: Clinical profile of 46 Brazilian patients
-
Ferraz, H. B. & Andrade, L. A. Symptomatic dystonia: clinical profile of 46 Brazilian patients. Can. J. Neurol. Sci. 19, 504-507 (1992).
-
(1992)
Can. J. Neurol. Sci.
, vol.19
, pp. 504-507
-
-
Ferraz, H.B.1
Andrade, L.A.2
-
18
-
-
27744438577
-
Prevalence of movement disorders in men and women aged 50-89 years (Bruneck Study cohort): A population-based study
-
DOI 10.1016/S1474-4422(05)70226-X, PII S147444220570226X
-
Wenning, G. K. et al. Prevalence of movement disorders in men and women aged 50-89 years (Bruneck Study cohort): a population-based study. Lancet Neurol. 4, 815-820 (2005). (Pubitemid 41619436)
-
(2005)
Lancet Neurology
, vol.4
, Issue.12
, pp. 815-820
-
-
Wenning, G.K.1
Kiechl, S.2
Seppi, K.3
Muller, J.4
Hogl, B.5
Saletu, M.6
Rungger, G.7
Gasperi, A.8
Willeit, J.9
Poewe, W.10
-
19
-
-
0031789919
-
The natural history of tardive dystonia. A long-term follow-up study of 107 cases
-
DOI 10.1093/brain/121.11.2053
-
Kiriakakis, V., Bhatia, K. P., Quinn, N. P. & Marsden, C. D. The natural history of tardive dystonia. A long-term follow-up study of 107 cases. Brain 121, 2053-2066 (1998). (Pubitemid 28497904)
-
(1998)
Brain
, vol.121
, Issue.11
, pp. 2053-2066
-
-
Kiriakakis, V.1
Bhatia, K.P.2
Quinn, N.P.3
Marsden, C.D.4
-
20
-
-
33746957321
-
The diagnosis of dystonia
-
DOI 10.1016/S1474-4422(06)70547-6, PII S1474442206705476
-
Geyer, H. L. & Bressman, S. B. The diagnosis of dystonia. Lancet Neurol. 5, 780-790 (2006). (Pubitemid 44205514)
-
(2006)
Lancet Neurology
, vol.5
, Issue.9
, pp. 780-790
-
-
Geyer, H.L.1
Bressman, S.B.2
-
21
-
-
34648814423
-
Prevalence of cervical dystonia and spasmodic torticollis in the United States general population
-
DOI 10.1016/j.parkreldis.2007.02.005, PII S1353802007000296
-
Jankovic, J., Tsui, J. & Bergeron, C. Prevalence of cervical dystonia and spasmodic torticollis in the United States general population. Parkinsonism Relat. Disord. 13, 411-416 (2007). (Pubitemid 47454719)
-
(2007)
Parkinsonism and Related Disorders
, vol.13
, Issue.7
, pp. 411-416
-
-
Jankovic, J.1
Tsui, J.2
Bergeron, C.3
-
22
-
-
0034545339
-
Dystonia update
-
DOI 10.1097/00002826-200009000-00002
-
Bressman, S. B. Dystonia update. Clin. Neuropharmacol. 23, 239-251 (2000). (Pubitemid 32014473)
-
(2000)
Clinical Neuropharmacology
, vol.23
, Issue.5
, pp. 239-251
-
-
Bressman, S.B.1
-
23
-
-
77953349523
-
Differential diagnosis of dystonia
-
Elia, A. E., Lalli, S. & Albanese, A. Differential diagnosis of dystonia. Eur. J. Neurol. 17, 1-8 (2010).
-
(2010)
Eur. J. Neurol.
, vol.17
, pp. 1-8
-
-
Elia, A.E.1
Lalli, S.2
Albanese, A.3
-
24
-
-
0031740582
-
Consensus statement of the Movement Disorder Society on tremor
-
Deuschl, G., Bain, P. & Brin, M. Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee. Mov. Disord. 13, 2-23 (1998). (Pubitemid 28517753)
-
(1998)
Movement Disorders
, vol.13
, Issue.SUPPL. 3
, pp. 2-23
-
-
Deuschl, G.1
Bain, P.2
Brin, M.3
Agid, Y.4
Benabid, L.5
Benecke, R.6
Berardelli, A.7
Brooks, D.J.8
Elble, R.9
Fahn, S.10
Findley, L.J.11
Hallett, M.12
Jankovic, J.13
Koller, W.C.14
Krack, P.15
Lang, A.E.16
Lees, A.17
Lucking, C.H.18
Marsden, C.D.19
Obeso, J.A.20
Oertel, W.H.21
Poewe, W.22
Pollak, P.23
Quinn, N.24
Rothwell, J.C.25
Shibasaki, H.26
Thompson, P.27
Toloso, E.28
more..
-
25
-
-
68449102380
-
Psychogenic movement disorders
-
Gupta, A. & Lang, A. E. Psychogenic movement disorders. Curr. Opin. Neurol. 22, 430-436 (2009).
-
(2009)
Curr. Opin. Neurol.
, vol.22
, pp. 430-436
-
-
Gupta, A.1
Lang, A.E.2
-
26
-
-
0025892064
-
Idiopathic cervical dystonia: Clinical characteristics
-
Chan, J., Brin, M. F. & Fahn, S. Idiopathic cervical dystonia: clinical characteristics. Mov. Disord. 6, 119-126 (1991).
-
(1991)
Mov. Disord.
, vol.6
, pp. 119-126
-
-
Chan, J.1
Brin, M.F.2
Fahn, S.3
-
27
-
-
77949504577
-
The phenomenology of the geste antagoniste in primary blepharospasm and cervical dystonia
-
Martino, D. et al. The phenomenology of the geste antagoniste in primary blepharospasm and cervical dystonia. Mov. Disord. 25, 407-412 (2010).
-
(2010)
Mov. Disord.
, vol.25
, pp. 407-412
-
-
Martino, D.1
-
28
-
-
0031920885
-
Exteroceptive and interoceptive stimuli in dystonia
-
DOI 10.1002/mds.870130329
-
Greene, P. E. & Bressman, S. Exteroceptive and interoceptive stimuli in dystonia. Mov. Disord. 13, 549-551 (1998). (Pubitemid 28221513)
-
(1998)
Movement Disorders
, vol.13
, Issue.3
, pp. 549-551
-
-
Greene, P.E.1
Bressman, S.2
-
29
-
-
77955817959
-
The diagnostic challenge of primary dystonia: Evidence from misdiagnosis
-
Lalli, S. & Albanese, A. The diagnostic challenge of primary dystonia: evidence from misdiagnosis. Mov. Disord. 25, 1619-1626 (2010).
-
(2010)
Mov. Disord.
, vol.25
, pp. 1619-1626
-
-
Lalli, S.1
Albanese, A.2
-
30
-
-
70350294580
-
Inborn errors of metabolism and motor disturbances in children
-
Garcia-Cazorla, A. et al. Inborn errors of metabolism and motor disturbances in children. J. Inherit. Metab. Dis. 32, 618-629 (2009).
-
(2009)
J. Inherit. Metab. Dis.
, vol.32
, pp. 618-629
-
-
Garcia-Cazorla, A.1
-
31
-
-
65349178121
-
The paroxysmal dyskinesias
-
van Rootselaar, A. F., van Westrum, S. S., Velis, D. N. & Tijssen, M. A. The paroxysmal dyskinesias. Pract. Neurol. 9, 102-109 (2009).
-
(2009)
Pract. Neurol.
, vol.9
, pp. 102-109
-
-
Van Rootselaar, A.F.1
Van Westrum, S.S.2
Velis, D.N.3
Tijssen, M.A.4
-
32
-
-
7044272333
-
Age at onset as a factor in determining the phenotype of primary torsion dystonia
-
O'Riordan, S. et al. Age at onset as a factor in determining the phenotype of primary torsion dystonia. Neurology 63, 1423-1426 (2004). (Pubitemid 39426275)
-
(2004)
Neurology
, vol.63
, Issue.8
, pp. 1423-1426
-
-
O'Riordan, S.1
Raymond, D.2
Lynch, T.3
Saunders-Pullman, R.4
Bressman, S.B.5
Daly, L.6
Hutchinson, M.7
-
33
-
-
67449149588
-
Genetics and treatment of dystonia
-
vi
-
Schwarz, C. S. & Bressman, S. B. Genetics and treatment of dystonia. Neurol. Clin. 27, 697-718, vi (2009).
-
(2009)
Neurol. Clin.
, vol.27
, pp. 697-718
-
-
Schwarz, C.S.1
Bressman, S.B.2
-
34
-
-
0024457283
-
Idiopathic dystonia among Ashkenazi Jews: Evidence for autosomal dominant inheritance
-
Bressman, S. B. et al. Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance. Ann. Neurol. 26, 612-620 (1989).
-
(1989)
Ann. Neurol.
, vol.26
, pp. 612-620
-
-
Bressman, S.B.1
-
35
-
-
0031797115
-
The role of DYT1 in primary torsion dystonia in Europe
-
Valente, E. M. 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
-
36
-
-
67849106621
-
Autosomal-dominant GTPCH1-deficient DRD: Clinical characteristics and long-term outcome of 34 patients
-
Trender-Gerhard, I. et al. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. J. Neurol. Neurosurg. Psychiatry 80, 839-845 (2009).
-
(2009)
J. Neurol. Neurosurg. Psychiatry
, vol.80
, pp. 839-845
-
-
Trender-Gerhard, I.1
-
37
-
-
77953350186
-
Dystonia-plus syndromes
-
Asmus, F. & Gasser, T. Dystonia-plus syndromes. Eur. J. Neurol. 17, 37-45 (2010).
-
(2010)
Eur. J. Neurol.
, vol.17
, pp. 37-45
-
-
Asmus, F.1
Gasser, T.2
-
38
-
-
0033595566
-
Striatal biopterin and tyrosine hydroxylase protein reduction in dopa- responsive dystonia
-
Furukawa, Y. et al. Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia. Neurology 53, 1032-1041 (1999). (Pubitemid 29442120)
-
(1999)
Neurology
, vol.53
, Issue.5
, pp. 1032-1041
-
-
Furukawa, Y.1
Nygaard, T.G.2
Gutlich, M.3
Rajput, A.H.4
Pifl, C.5
DiStefano, L.6
Chang, L.J.7
Price, K.8
Shimadzu, M.9
Hornykiewicz, O.10
Haycock, J.W.11
Kish, S.J.12
-
39
-
-
7044240807
-
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency
-
Schiller, A., Wevers, R. A., Steenbergen, G. C., Blau, N. & Jung, H. H. Long-term course of l-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. Neurology 63, 1524-1526 (2004). (Pubitemid 39426298)
-
(2004)
Neurology
, vol.63
, Issue.8
, pp. 1524-1526
-
-
Schiller, A.1
Wevers, R.A.2
Steenbergen, G.C.H.3
Blau, N.4
Jung, H.H.5
-
40
-
-
33748995929
-
Severe tongue protrusion dystonia: Clinical syndromes and possible treatment
-
DOI 10.1212/01.wnl.0000237446.06971.72, PII 0000611420060926000009
-
Schneider, S. A. et al. Severe tongue protrusion dystonia: clinical syndromes and possible treatment. Neurology 67, 940-943 (2006). (Pubitemid 44454582)
-
(2006)
Neurology
, vol.67
, Issue.6
, pp. 940-943
-
-
Schneider, S.A.1
Aggarwal, A.2
Bhatt, M.3
Dupont, E.4
Tisch, S.5
Limousin, P.6
Lee, P.7
Quinn, N.8
Bhatia, K.P.9
-
41
-
-
0021281788
-
Hemi-dystonia secondary to localised basal ganglia tumour
-
Narbona, J., Obeso, J. A., Tunon, T., Martinez-Lage, J. M. & Marsden, C. D. Hemi-dystonia secondary to localised basal ganglia tumour. J. Neurol. Neurosurg. Psychiatry 47, 704-709 (1984). (Pubitemid 14075414)
-
(1984)
Journal of Neurology Neurosurgery and Psychiatry
, vol.47
, Issue.7
, pp. 704-709
-
-
Narbona, J.1
Obeso, J.A.2
Tunon, T.3
-
42
-
-
0021826543
-
The anatomical basis of symptomatic hemidystonia
-
Marsden, C. D., Obeso, J. A., Zarranz, J. J. & Lang, A. E. The anatomical basis of symptomatic hemidystonia. Brain 108, 463-483 (1985). (Pubitemid 15064805)
-
(1985)
Brain
, vol.108
, Issue.2
, pp. 463-483
-
-
Marsden, C.D.1
Obeso, J.A.2
Zarranz, J.J.3
Lang, A.E.4
-
43
-
-
0021331123
-
Pure hemidystonia with basal ganglion abnormalities on positron emision tomography
-
DOI 10.1002/ana.410150303
-
Perlmutter, J. S. & Raichle, M. E. Pure hemidystonia with basal ganglion abnormalities on positron emission tomography. Ann. Neurol. 15, 228-233 (1984). (Pubitemid 14164736)
-
(1984)
Annals of Neurology
, vol.15
, Issue.3
, pp. 228-233
-
-
Perlmutter, J.S.1
Raichle, M.E.2
-
45
-
-
4143083744
-
Increased risk for recurrent major depression in DYT1 dystonia mutation carriers
-
Heiman, G. A. et al. Increased risk for recurrent major depression in DYT1 dystonia mutation carriers. Neurology 63, 631-637 (2004). (Pubitemid 39100817)
-
(2004)
Neurology
, vol.63
, Issue.4
, 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
-
46
-
-
0038123157
-
Impaired sequence learning in carriers of the DYT1 dystonia mutation
-
Ghilardi, M. F. 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
-
47
-
-
64349090856
-
Mutations in THAP1 (DYT6) in early-onset dystonia: A genetic screening study
-
Bressman, S. B. et al. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol. 8, 441-446 (2009).
-
(2009)
Lancet Neurol.
, vol.8
, pp. 441-446
-
-
Bressman, S.B.1
-
48
-
-
77949372189
-
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
-
Houlden, H. et al. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology 74, 846-850 (2010).
-
(2010)
Neurology
, vol.74
, pp. 846-850
-
-
Houlden, H.1
-
49
-
-
67749110057
-
The monogenic primary dystonias
-
Muller, U. The monogenic primary dystonias. Brain 132, 2005-2025 (2009).
-
(2009)
Brain
, vol.132
, pp. 2005-2025
-
-
Muller, U.1
-
50
-
-
67651156095
-
Complicated recessive dystonia parkinsonism syndromes
-
Schneider, S. A., Bhatia, K. P. & Hardy, J. Complicated recessive dystonia parkinsonism syndromes. Mov. Disord. 24, 490-499 (2009).
-
(2009)
Mov. Disord.
, vol.24
, pp. 490-499
-
-
Schneider, S.A.1
Bhatia, K.P.2
Hardy, J.3
-
51
-
-
67651183916
-
Myoclonus-dystonia: An update
-
Kinugawa, K. et al. Myoclonus-dystonia: an update. Mov. Disord. 24, 479-489 (2009).
-
(2009)
Mov. Disord.
, vol.24
, pp. 479-489
-
-
Kinugawa, K.1
-
52
-
-
11144358159
-
Myoclonus-dystonia: Detection of novel, recurrent, and de novo SGCE mutations
-
Hedrich, K. et al. Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. Neurology 62, 1229-1231 (2004). (Pubitemid 38456531)
-
(2004)
Neurology
, vol.62
, Issue.7
, pp. 1229-1231
-
-
Hedrich, K.1
Meyer, E.-M.2
Schule, B.3
Kock, N.4
De Carvalho Aguiar, P.5
Wiegers, K.6
Koelman, J.H.7
Garrels, J.8
Durr, R.9
Liu, L.10
Schwinger, E.11
Ozelius, L.J.12
Landwehrmeyer, B.13
Stoessl, A.J.14
Tijssen, M.A.J.15
Klein, C.16
-
53
-
-
0036916437
-
Evidence that paternal expression of the ε-Sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia
-
DOI 10.1086/344531
-
Muller, B. et al. Evidence that paternal expression of the ε-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. Am. J. Hum. Genet. 71, 1303-1311 (2002). (Pubitemid 36015885)
-
(2002)
American Journal of Human Genetics
, vol.71
, Issue.6
, pp. 1303-1311
-
-
Muller, B.1
Hedrich, K.2
Kock, N.3
Dragasevic, N.4
Svetel, M.5
Garrels, J.6
Landt, O.7
Nitschke, M.8
Pramstaller, P.P.9
Reik, W.10
Schwinger, E.11
Sperner, J.12
Ozelius, L.13
Kostic, V.14
Klein, C.15
-
54
-
-
8844247891
-
M1 gangliosidosis: Report of three Indian patients and review of 40 cases
-
DOI 10.1002/mds.20193
-
Muthane, U. et al. Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases. Mov. Disord. 19, 1334-1341 (2004). (Pubitemid 39534553)
-
(2004)
Movement Disorders
, vol.19
, Issue.11
, pp. 1334-1341
-
-
Muthane, U.B.1
Chickabasaviah, Y.2
Kaneski, C.3
Shankar, S.K.4
Narayanappa, G.5
Christopher, R.6
Govindappa, S.S.7
-
55
-
-
0031762056
-
Dystonia after striatopallidal and thalamic stroke: Clinicoradiological correlations and pathophysiological mechanisms
-
Krystkowiak, P. et al. Dystonia after striatopallidal and thalamic stroke: clinicoradiological correlations and pathophysiological mechanisms. J. Neurol. Neurosurg. Psychiatry 65, 703-708 (1998). (Pubitemid 28486649)
-
(1998)
Journal of Neurology Neurosurgery and Psychiatry
, vol.65
, Issue.5
, pp. 703-708
-
-
Krystkowiak, P.1
Martinat, P.2
Defebvre, L.3
Pruvo, J.P.4
Leys, D.5
Destee, A.6
-
56
-
-
0029866764
-
Symptomatic dystonias associated with structural brain lesions: Report of 16 cases
-
Kostic, V. S., Stojanovic-Svetel, M. & Kacar, A. Symptomatic dystonias associated with structural brain lesions: report of 16 cases. Can. J. Neurol. Sci. 23, 53-56 (1996). (Pubitemid 26075688)
-
(1996)
Canadian Journal of Neurological Sciences
, vol.23
, Issue.1
, pp. 53-56
-
-
Kostic, V.S.1
Stojanovic-Svetel, M.2
Kacar, A.3
-
57
-
-
84862786818
-
Focal hand dystonia secondary to Basal Ganglia germinoma
-
Kim, J. S. et al. Focal hand dystonia secondary to Basal Ganglia germinoma. J. Clin. Neurol. 3, 150-153 (2007).
-
(2007)
J. Clin. Neurol.
, vol.3
, pp. 150-153
-
-
Kim, J.S.1
-
58
-
-
0028017280
-
Movement disorders following lesions of the thalamus or subthalamic region
-
Lee, M. S. & Marsden, C. D. Movement disorders following lesions of the thalamus or subthalamic region. Mov. Disord. 9, 493-507 (1994). (Pubitemid 24275065)
-
(1994)
Movement Disorders
, vol.9
, Issue.5
, pp. 493-507
-
-
Lee, M.S.1
Marsden, C.D.2
-
59
-
-
0033828558
-
A lesion of the anterior thalamus producing dystonic tremor of the hand
-
Cho, C. & Samkoff, L. M. A lesion of the anterior thalamus producing dystonic tremor of the hand. Arch. Neurol. 57, 1353-1355 (2000).
-
(2000)
Arch. Neurol.
, vol.57
, pp. 1353-1355
-
-
Cho, C.1
Samkoff, L.M.2
-
60
-
-
43149115142
-
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia-A new metabolic disorder
-
Tuschl, K. et al. Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia-A new metabolic disorder. J. Inherit. Metab. Dis. 31, 151-163 (2008).
-
(2008)
J. Inherit. Metab. Dis.
, vol.31
, pp. 151-163
-
-
Tuschl, K.1
-
61
-
-
0025563350
-
The neurotoxicology and pathology of organomercury, organolead, and organotin
-
Chang, L. W. The neurotoxicology and pathology of organomercury, organolead, and organotin. J. Toxicol. Sci. 15 (Suppl. 1), 125-151 (1990).
-
(1990)
J. Toxicol. Sci.
, vol.15
, Issue.SUPPL. 1
, pp. 125-151
-
-
Chang, L.W.1
-
62
-
-
0026809862
-
Neurological disorders in 166 patients with basal ganglia calcification: A statistical evaluation
-
Forstl, H., Krumm, B., Eden, S. & Kohlmeyer, K. Neurological disorders in 166 patients with basal ganglia calcification: a statistical evaluation. J. Neurol. 239, 36-38 (1992).
-
(1992)
J. Neurol.
, vol.239
, pp. 36-38
-
-
Forstl, H.1
Krumm, B.2
Eden, S.3
Kohlmeyer, K.4
-
63
-
-
0033358650
-
Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease)
-
DOI 10.1086/302558
-
Geschwind, D. H., Loginov, M. & Stern, J. M. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am. J. Hum. Genet. 65, 764-772 (1999). (Pubitemid 30468722)
-
(1999)
American Journal of Human Genetics
, vol.65
, Issue.3
, pp. 764-772
-
-
Geschwind, D.H.1
Loginov, M.2
Stern, J.M.3
-
64
-
-
37849188393
-
Secondary cervical dystonia in iatrogenic hypoparathyroidism associated with extensive brain calcifications
-
Mancini, F. et al. Secondary cervical dystonia in iatrogenic hypoparathyroidism associated with extensive brain calcifications. Funct. Neurol. 21, 165-166 (2006).
-
(2006)
Funct. Neurol.
, vol.21
, pp. 165-166
-
-
Mancini, F.1
-
65
-
-
0037413484
-
Genetic, clinical, and radiographic delineation of hallervorden-Spatz Syndrome
-
DOI 10.1056/NEJMoa020817
-
Hayflick, S. J. et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N. Engl. J. Med. 348, 33-40 (2003). (Pubitemid 36026344)
-
(2003)
New England Journal of Medicine
, vol.348
, Issue.1
, pp. 33-40
-
-
Hayflick, S.J.1
Westaway, S.K.2
Levinson, B.3
Zhou, B.4
Johnson, M.A.5
Ching, K.H.L.6
Gitschier, J.7
-
66
-
-
62149099955
-
Clinical and genetic delineation of neurodegeneration with brain iron accumulation
-
Gregory, A., Polster, B. J. & Hayflick, S. J. Clinical and genetic delineation of neurodegeneration with brain iron accumulation. J. Med. Genet. 46, 73-80 (2009).
-
(2009)
J. Med. Genet.
, vol.46
, pp. 73-80
-
-
Gregory, A.1
Polster, B.J.2
Hayflick, S.J.3
-
67
-
-
33747404210
-
Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations
-
Hayflick, S. J., Hartman, M., Coryell, J., Gitschier, J. & Rowley, H. Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am. J. Neuroradiol. 27, 1230-1233 (2006). (Pubitemid 44897631)
-
(2006)
American Journal of Neuroradiology
, vol.27
, Issue.6
, pp. 1230-1233
-
-
Hayflick, S.J.1
Hartman, M.2
Coryell, J.3
Gitschier, J.4
Rowley, H.5
-
68
-
-
42949158787
-
T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation
-
DOI 10.1212/01.wnl.0000310985.40011.d6, PII 0000611420080429000008
-
McNeill, A. et al. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology 70, 1614-1619 (2008). (Pubitemid 351620317)
-
(2008)
Neurology
, vol.70
, Issue.18
, pp. 1614-1619
-
-
McNeill, A.1
Birchall, D.2
Hayflick, S.J.3
Gregory, A.4
Schenk, J.F.5
Zimmerman, E.A.6
Shang, H.7
Miyajima, H.8
Chinnery, P.F.9
-
69
-
-
33845899114
-
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation
-
DOI 10.1093/brain/awl319
-
Chinnery, P. F. et al. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain 130, 110-119 (2007). (Pubitemid 46026227)
-
(2007)
Brain
, vol.130
, Issue.1
, pp. 110-119
-
-
Chinnery, P.F.1
Crompton, D.E.2
Birchall, D.3
Jackson, M.J.4
Coulthard, A.5
Lombes, A.6
Quinn, N.7
Wills, A.8
Fletcher, N.9
Mottershead, J.P.10
Cooper, P.11
Kellett, M.12
Bates, D.13
Burn, J.14
-
70
-
-
33745553895
-
2, is mutated in neurodegenerative disorders with high brain iron
-
DOI 10.1038/ng1826, PII N1826
-
Morgan, N. V. et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat. Genet. 38, 752-754 (2006). (Pubitemid 43980594)
-
(2006)
Nature Genetics
, vol.38
, Issue.7
, pp. 752-754
-
-
Morgan, N.V.1
Westaway, S.K.2
Morton, J.E.V.3
Gregory, A.4
Gissen, P.5
Sonek, S.6
Cangul, H.7
Coryell, J.8
Canham, N.9
Nardocci, N.10
Zorzi, G.11
Pasha, S.12
Rodriguez, D.13
Desguerre, I.14
Mubaidin, A.15
Bertini, E.16
Trembath, R.C.17
Simonati, A.18
Schanen, C.19
Johnson, C.A.20
Levinson, B.21
Woods, C.G.22
Wilmot, B.23
Kramer, P.24
Gitschier, J.25
Maher, E.R.26
Hayflick, S.J.27
more..
-
71
-
-
0036221829
-
A case of aceruloplasminaemia: Abnormal serum ceruloplasmin protein without ferroxidase activity
-
Takeuchi, Y. et al. A case of aceruloplasminaemia: abnormal serum ceruloplasmin protein without ferroxidase activity. J. Neurol. Neurosurg. Psychiatry 72, 543-545 (2002).
-
(2002)
J. Neurol. Neurosurg. Psychiatry
, vol.72
, pp. 543-545
-
-
Takeuchi, Y.1
-
72
-
-
48049107099
-
The neurological presentation of ceruloplasmin gene mutations
-
McNeill, A., Pandolfo, M., Kuhn, J., Shang, H. & Miyajima, H. The neurological presentation of ceruloplasmin gene mutations. Eur. Neurol. 60, 200-205 (2008).
-
(2008)
Eur. Neurol.
, vol.60
, pp. 200-205
-
-
McNeill, A.1
Pandolfo, M.2
Kuhn, J.3
Shang, H.4
Miyajima, H.5
-
73
-
-
0033709765
-
Clinical report of three patients with hereditary hemochromatosis and movement disorders
-
Demarquay, G. et al. Clinical report of three patients with hereditary hemochromatosis and movement disorders. Mov. Disord. 15, 1204-1209 (2000).
-
(2000)
Mov. Disord.
, vol.15
, pp. 1204-1209
-
-
Demarquay, G.1
-
74
-
-
2442690500
-
Wilson's disease: Diagnostic errors and clinical implications
-
DOI 10.1136/jnnp.2003.026310
-
Prashanth, L. K., Taly, A. B., Sinha, S., Arunodaya, G. R. & Swamy, H. S. Wilson's disease: diagnostic errors and clinical implications. J. Neurol. Neurosurg. Psychiatry 75, 907-909 (2004). (Pubitemid 38658520)
-
(2004)
Journal of Neurology, Neurosurgery and Psychiatry
, vol.75
, Issue.6
, pp. 907-909
-
-
Prashanth, L.K.1
Taly, A.B.2
Sinha, S.3
Arunodaya, G.R.4
Swamy, H.S.5
-
76
-
-
14244260491
-
Wilson disease in septuagenarian siblings: Raising the bar for diagnosis
-
DOI 10.1002/hep.20601
-
Ala, A., Borjigin, J., Rochwarger, A. & Schilsky, M. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. Hepatology 41, 668-670 (2005). (Pubitemid 40289516)
-
(2005)
Hepatology
, vol.41
, Issue.3
, pp. 668-670
-
-
Ala, A.1
Borjigin, J.2
Rochwarger, A.3
Schilsky, M.4
-
77
-
-
0037623556
-
Faces of the giant panda and her cub: MRI correlates of Wilson's disease
-
Liebeskind, D. S., Wong, S. & Hamilton, R. H. Faces of the giant panda and her cub: MRI correlates of Wilson's disease. J. Neurol. Neurosurg. Psychiatry 74, 682 (2003).
-
(2003)
J. Neurol. Neurosurg. Psychiatry
, vol.74
, pp. 682
-
-
Liebeskind, D.S.1
Wong, S.2
Hamilton, R.H.3
-
78
-
-
33746917117
-
Movement disorders associated with hyperthyroidism: Expanding the phenotype
-
Tan, E. K. & Chan, L. L. Movement disorders associated with hyperthyroidism: expanding the phenotype. Mov. Disord. 21, 1054-1055 (2006).
-
(2006)
Mov. Disord.
, vol.21
, pp. 1054-1055
-
-
Tan, E.K.1
Chan, L.L.2
-
79
-
-
0023924316
-
Dystonia in homocystinuria
-
Kempster, P. A., Brenton, D. P., Gale, A. N. & Stern, G. M. Dystonia in homocystinuria. J. Neurol. Neurosurg. Psychiatry 51, 859-862 (1988).
-
(1988)
J. Neurol. Neurosurg. Psychiatry
, vol.51
, pp. 859-862
-
-
Kempster, P.A.1
Brenton, D.P.2
Gale, A.N.3
Stern, G.M.4
-
80
-
-
7244232716
-
Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: Anticholinergic drugs and botulinum toxin as additional therapeutic options
-
DOI 10.1023/B:BOLI.0000045776.50573.52
-
Burlina, A. P., Zara, G., Hoffmann, G. F., Zschocke, J. & Burlina, A. B. Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: anticholinergic drugs and botulinum toxin as additional therapeutic options. J. Inherit Metab. Dis. 27, 911-915 (2004). (Pubitemid 39433627)
-
(2004)
Journal of Inherited Metabolic Disease
, vol.27
, Issue.6
, pp. 911-915
-
-
Burlina, A.P.1
Zara, G.2
Hoffmann, G.F.3
Zschocke, J.4
Burlina, A.B.5
-
81
-
-
39049126490
-
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
-
Torres, R. J. & Puig, J. G. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J. Rare Dis. 2, 48 (2007).
-
(2007)
Orphanet J. Rare Dis.
, vol.2
, pp. 48
-
-
Torres, R.J.1
Puig, J.G.2
-
82
-
-
33846452131
-
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)
-
DOI 10.1007/s10545-006-0451-4
-
Kolker, S. et al. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J. Inherit. Metab. Dis. 30, 5-22 (2007). (Pubitemid 46140220)
-
(2007)
Journal of Inherited Metabolic Disease
, vol.30
, Issue.1
, pp. 5-22
-
-
Kolker, S.1
Christensen, E.2
Leonard, J.V.3
Greenberg, C.R.4
Burlina, A.B.5
Burlina, A.P.6
Dixon, M.7
Duran, M.8
Goodman, S.I.9
Koeller, D.M.10
Muller, E.11
Naughten, E.R.12
Neumaier-Probst, E.13
Okun, J.G.14
Kyllerman, M.15
Surtees, R.A.16
Wilcken, B.17
Hoffmann, G.F.18
Burgard, P.19
-
83
-
-
76149087434
-
Inherited metabolic disorders and stroke part 2: Homocystinuria, organic acidurias, and urea cycle disorders
-
Testai, F. D. & Gorelick, P. B. Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. Arch. Neurol. 67, 148-153.
-
Arch. Neurol.
, vol.67
, pp. 148-153
-
-
Testai, F.D.1
Gorelick, P.B.2
-
84
-
-
33846097303
-
Neurologic phenotypes associated with acanthocytosis
-
DOI 10.1212/01.wnl.0000250356.78092.cc, PII 0000611420070109000006
-
Walker, R. H. et al. Neurologic phenotypes associated with acanthocytosis. Neurology 68, 92-98 (2007). (Pubitemid 46071891)
-
(2007)
Neurology
, vol.68
, Issue.2
, pp. 92-98
-
-
Walker, R.H.1
Jung, H.H.2
Dobson-Stone, C.3
Rampoldi, L.4
Sano, A.5
Tison, F.6
Danek, A.7
-
85
-
-
0026073577
-
Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases
-
Hardie, R. J. et al. Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. Brain 114, 13-49 (1991).
-
(1991)
Brain
, vol.114
, pp. 13-49
-
-
Hardie, R.J.1
-
87
-
-
79953769335
-
Demonstration of striatopallidal iron deposition in chorea-acanthocytosis by susceptibility-weighted imaging
-
Lee, J. H., Lee, S. M. & Baik, S. K. Demonstration of striatopallidal iron deposition in chorea-acanthocytosis by susceptibility-weighted imaging. J. Neurol. 258, 321-322 (2010)
-
(2010)
J. Neurol.
, vol.258
, pp. 321-322
-
-
Lee, J.H.1
Lee, S.M.2
Baik, S.K.3
-
88
-
-
0035084427
-
Acanthocytosis and neurological disorders
-
DOI 10.1007/s004150170241
-
Stevenson, V. L. & Hardie, R. J. Acanthocytosis and neurological disorders. J. Neurol. 248, 87-94 (2001). (Pubitemid 32245417)
-
(2001)
Journal of Neurology
, vol.248
, Issue.2
, pp. 87-94
-
-
Stevenson, V.L.1
Hardie, R.J.2
-
89
-
-
14844335966
-
Neuroacanthocytosis: New developments in a neglected group of dementing disorders
-
DOI 10.1016/j.jns.2004.11.024, Vascular Dementia Proceedings of the Third International Congress on Vascualr Dementia
-
Danek, A. et al. Neuroacanthocytosis: new developments in a neglected group of dementing disorders. J. Neurol. Sci. 229-230, 171-186 (2005). (Pubitemid 40341582)
-
(2005)
Journal of the Neurological Sciences
, vol.229-230
, pp. 171-186
-
-
Danek, A.1
Jung, H.H.2
Melone, M.A.B.3
Rampoldi, L.4
Broccoli, V.5
Walker, R.H.6
|