-
1
-
-
33750307381
-
Genetics of dystonia
-
Bressman S. Genetics of dystonia. J Neural Transm Suppl 2006 70 : 489 495.
-
(2006)
J Neural Transm Suppl
, vol.70
, pp. 489-495
-
-
Bressman, S.1
-
2
-
-
0027034964
-
Idiopathic dystonia. Clinical profile of 76 Brazilian patients
-
Andrade LA, Ferraz HB. Idiopathic dystonia. Clinical profile of 76 Brazilian patients. Arq Neuropsiquiatr 1992 50 : 426 432.
-
(1992)
Arq Neuropsiquiatr
, vol.50
, pp. 426-432
-
-
Andrade, L.A.1
Ferraz, H.B.2
-
3
-
-
27744438577
-
Prevalence of movement disorders in men and women aged 50-89 years (Bruneck Study cohort): A population-based study
-
Wenning GK, Kiechl S, Seppi K, et al. Prevalence of movement disorders in men and women aged 50-89 years (Bruneck Study cohort): a population-based study. Lancet Neurol 2005 4 : 815 820.
-
(2005)
Lancet Neurol
, vol.4
, pp. 815-820
-
-
Wenning, G.K.1
Kiechl, S.2
Seppi, K.3
-
6
-
-
64749086402
-
Mutations in THAP1 (DYT6) are associated with generalised dystonia with prominent spasmodic dysphonia - A genetic screening study
-
Djarmati A, Schneider SA, Lohmann K, et al. Mutations in THAP1 (DYT6) are associated with generalised dystonia with prominent spasmodic dysphonia - a genetic screening study. Lancet Neurol 2009 8 : 447 452.
-
(2009)
Lancet Neurol
, vol.8
, pp. 447-452
-
-
Djarmati, A.1
Schneider, S.A.2
Lohmann, K.3
-
7
-
-
0027401233
-
Evidence for locus heterogeneity in autosomal dominant torsion dystonia
-
Ahmad F, Davis MB, Waddy HM, et al. Evidence for locus heterogeneity in autosomal dominant torsion dystonia. Genomics 1993 15 : 9 12.
-
(1993)
Genomics
, vol.15
, pp. 9-12
-
-
Ahmad, F.1
Davis, M.B.2
Waddy, H.M.3
-
8
-
-
52749087100
-
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12
-
Chouery E, Kfoury J, Delague V, et al. A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12. Neurogenetics 2008 9 : 287 293.
-
(2008)
Neurogenetics
, vol.9
, pp. 287-293
-
-
Chouery, E.1
Kfoury, J.2
Delague, V.3
-
9
-
-
33748995929
-
Severe tongue protrusion dystonia: Clinical syndromes and possible treatment
-
Schneider SA, Aggarwal A, Bhatt M, et al. Severe tongue protrusion dystonia: clinical syndromes and possible treatment. Neurology 2006 67 : 940 943.
-
(2006)
Neurology
, vol.67
, pp. 940-943
-
-
Schneider, S.A.1
Aggarwal, A.2
Bhatt, M.3
-
10
-
-
33845910402
-
The adult form of Niemann-Pick disease type C
-
Sevin M, Lesca G, Baumann N, et al. The adult form of Niemann-Pick disease type C. Brain 2007 130 : 120 133.
-
(2007)
Brain
, vol.130
, pp. 120-133
-
-
Sevin, M.1
Lesca, G.2
Baumann, N.3
-
11
-
-
34249909505
-
The National Niemann-Pick C1 disease database: Report of clinical features and health problems
-
Garver WS, Francis GA, Jelinek D, et al. The National Niemann-Pick C1 disease database: report of clinical features and health problems. Am J Med Genet A 2007 143 : 1204 1211.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 1204-1211
-
-
Garver, W.S.1
Francis, G.A.2
Jelinek, D.3
-
12
-
-
0019492048
-
An unusual form of metachromatic leukodystrophy in three siblings
-
Yatziv S, Russell A. An unusual form of metachromatic leukodystrophy in three siblings. Clin Genet 1981 19 : 222 227.
-
(1981)
Clin Genet
, vol.19
, pp. 222-227
-
-
Yatziv, S.1
Russell, A.2
-
14
-
-
0026612460
-
Ataxia telangiectasia in the British Isles: The clinical and laboratory features of 70 affected individuals
-
Woods CG, Taylor AM. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med 1992 82 : 169 179.
-
(1992)
Q J Med
, vol.82
, pp. 169-179
-
-
Woods, C.G.1
Taylor, A.M.2
-
15
-
-
65549133629
-
Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia
-
Carrillo F, Schneider SA, Taylor AM, et al. Prominent Oromandibular Dystonia and Pharyngeal Telangiectasia in Atypical Ataxia Telangiectasia. Cerebellum 2009 8 : 22 27.
-
(2009)
Cerebellum
, vol.8
, pp. 22-27
-
-
Carrillo, F.1
Schneider, S.A.2
Taylor, A.M.3
-
16
-
-
70350614737
-
Hereditary ataxias
-
Jankovic, J. Tolosa, E. eds., Philadelphia: Lippincott Williams & Wilkins
-
Klockgether T. Hereditary Ataxias. In : Jankovic J, Tolosa E, eds. Parkinson's Disease and Movement Disorders., Philadelphia: Lippincott Williams & Wilkins, 2007: 421435.
-
(2007)
Parkinson's Disease and Movement Disorders
, pp. 421-435
-
-
Klockgether, T.1
-
17
-
-
0032910198
-
Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD)
-
Klockgether T, Schols L, Abele M, et al. Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD). J Neurol Neurosurg Psychiatry 1999 66 : 222 224.
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.66
, pp. 222-224
-
-
Klockgether, T.1
Schols, L.2
Abele, M.3
-
18
-
-
16044366597
-
A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
-
Jin H, May M, Tranebjaerg L, et al. A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat Genet 1996 14 : 177 180.
-
(1996)
Nat Genet
, vol.14
, pp. 177-180
-
-
Jin, H.1
May, M.2
Tranebjaerg, L.3
-
19
-
-
0034434583
-
Mitochondrial DNA disorders
-
Naviaux RK. Mitochondrial DNA disorders. Eur J Pediatr 2000 159 (Suppl 3 S219 S226.
-
(2000)
Eur J Pediatr
, vol.159
, Issue.SUPPL. 3
-
-
Naviaux, R.K.1
-
20
-
-
57049100876
-
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
-
Alazami AM, Al-Saif A, Al-Semari A, et al. Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome. Am J Hum Genet 2008 83 : 684 691.
-
(2008)
Am J Hum Genet
, vol.83
, pp. 684-691
-
-
Alazami, A.M.1
Al-Saif, A.2
Al-Semari, A.3
-
21
-
-
42749097770
-
Dystonia in the Woodhouse Sakati syndrome: A new family and literature review
-
Schneider SA, Bhatia KP. Dystonia in the Woodhouse Sakati syndrome: A new family and literature review. Mov Disord 2008 23 : 592 596.
-
(2008)
Mov Disord
, vol.23
, pp. 592-596
-
-
Schneider, S.A.1
Bhatia, K.P.2
-
22
-
-
33751545897
-
Dystonia in Parkinson's disease
-
Tolosa E, Compta Y. Dystonia in Parkinson's disease. J Neurol 2006 253 (Suppl 7 VII7 VII13.
-
(2006)
J Neurol
, vol.253
, Issue.SUPPL. 7
-
-
Tolosa, E.1
Compta, Y.2
-
23
-
-
0347662213
-
Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease
-
Bozi M, Bhatia KP. Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease. Mov Disord 2003 18 : 1545 1547.
-
(2003)
Mov Disord
, vol.18
, pp. 1545-1547
-
-
Bozi, M.1
Bhatia, K.P.2
-
24
-
-
60849121924
-
Characterization of PLA2G6 as a locus for dystonia-parkinsonism
-
Paisan-Ruiz C, Bhatia KP, Li A, et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 2009 65 : 19 23.
-
(2009)
Ann Neurol
, vol.65
, pp. 19-23
-
-
Paisan-Ruiz, C.1
Bhatia, K.P.2
Li, A.3
-
25
-
-
67651156095
-
Complicated recessive dystonia parkinsonism syndromes
-
Schneider SA, Bhatia KP, Hardy J. Complicated recessive dystonia parkinsonism syndromes. Mov Disord 2009 24 : 490 499.
-
(2009)
Mov Disord
, vol.24
, pp. 490-499
-
-
Schneider, S.A.1
Bhatia, K.P.2
Hardy, J.3
-
27
-
-
0036764604
-
Focal dystonia as the presenting sign in Creutzfeldt-Jakob disease
-
Hellmann MA, Melamed E. Focal dystonia as the presenting sign in Creutzfeldt-Jakob disease. Mov Disord 2002 17 : 1097 1098.
-
(2002)
Mov Disord
, vol.17
, pp. 1097-1098
-
-
Hellmann, M.A.1
Melamed, E.2
-
28
-
-
0025808902
-
Creutzfeldt-Jakob's disease presenting with ataxia and a movement disorder
-
Sethi KD, Hess DC. Creutzfeldt-Jakob's disease presenting with ataxia and a movement disorder. Mov Disord 1991 6 : 157 162.
-
(1991)
Mov Disord
, vol.6
, pp. 157-162
-
-
Sethi, K.D.1
Hess, D.C.2
-
29
-
-
21344469516
-
Hemidystonia precipitated by acute pontine infarct
-
Tan EK, Chan LL, Auchus AP. Hemidystonia precipitated by acute pontine infarct. J Neurosurg Sci 2005 234 : 109 111.
-
(2005)
J Neurosurg Sci
, vol.234
, pp. 109-111
-
-
Tan, E.K.1
Chan, L.L.2
Auchus, A.P.3
-
30
-
-
0027978063
-
The behavioural and motor consequences of focal lesions of the basal ganglia in man
-
Bhatia KP, Marsden CD. The behavioural and motor consequences of focal lesions of the basal ganglia in man. Brain 1994 117 : 859 876.
-
(1994)
Brain
, vol.117
, pp. 859-876
-
-
Bhatia, K.P.1
Marsden, C.D.2
-
31
-
-
0029875444
-
Cervical dystonia due to a frontal meningioma
-
Soland V, Evoy F, Rivest J. Cervical dystonia due to a frontal meningioma. Mov Disord 1996 11 : 336 337.
-
(1996)
Mov Disord
, vol.11
, pp. 336-337
-
-
Soland, V.1
Evoy, F.2
Rivest, J.3
-
32
-
-
0037246324
-
Secondary cervical dystonia associated with structural lesions of the central nervous system
-
LeDoux MS, Brady KA. Secondary cervical dystonia associated with structural lesions of the central nervous system. Mov Disord 2003 18 : 60 69.
-
(2003)
Mov Disord
, vol.18
, pp. 60-69
-
-
Ledoux, M.S.1
Brady, K.A.2
-
33
-
-
33846139013
-
Dystonic head tremor associated with a parietal lesion
-
Kim JW, Lee PH. Dystonic head tremor associated with a parietal lesion. Eur J Neurol 2007 14 : e32 e33.
-
(2007)
Eur J Neurol
, vol.14
-
-
Kim, J.W.1
Lee, P.H.2
-
34
-
-
4444296389
-
Focal dystonia after removal of a parietal meningioma
-
Khan AA, Sussman JD. Focal dystonia after removal of a parietal meningioma. Mov Disord 2004 19 : 714 716.
-
(2004)
Mov Disord
, vol.19
, pp. 714-716
-
-
Khan, A.A.1
Sussman, J.D.2
-
35
-
-
0035526276
-
Action hand dystonia after cortical parietal infarction
-
Burguera JA, Bataller L, Valero C. Action hand dystonia after cortical parietal infarction. Mov Disord 2001 16 : 1183 1185.
-
(2001)
Mov Disord
, vol.16
, pp. 1183-1185
-
-
Burguera, J.A.1
Bataller, L.2
Valero, C.3
-
36
-
-
0034944092
-
Focal limb dystonia in a patient with a cerebellar mass
-
Alarcon F, Tolosa E, Munoz E. Focal limb dystonia in a patient with a cerebellar mass. Arch Neurol 2001 58 : 1125 1127.
-
(2001)
Arch Neurol
, vol.58
, pp. 1125-1127
-
-
Alarcon, F.1
Tolosa, E.2
Munoz, E.3
-
37
-
-
77953338445
-
ATP13A2 mutations (Park9) cause neurodegeneration with brain iron accumulation
-
Epub ahead of print 22 March 2010]
-
Schneider SA, Paisan-Ruiz C, Quinn N, Lees AJ, Houlden H, Hardy J, Bhatia KP. ATP13A2 mutations (Park9) cause neurodegeneration with brain iron accumulation. Mov Discord 2010 Epub ahead of print 22 March 2010].
-
(2010)
Mov Discord
-
-
Schneider, S.A.1
Paisan-Ruiz, C.2
Quinn, N.3
Lees, A.J.4
Houlden, H.5
Hardy, J.6
Bhatia, K.P.7
-
38
-
-
0023780837
-
Hallervorden-Spatz syndrome: Clinical and magnetic resonance imaging correlations
-
Sethi KD, Adams RJ, Loring DW, et al. Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations. Ann Neurol 1988 24 : 692 694.
-
(1988)
Ann Neurol
, vol.24
, pp. 692-694
-
-
Sethi, K.D.1
Adams, R.J.2
Loring, D.W.3
-
39
-
-
33845899114
-
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation
-
Chinnery PF, Crompton DE, Birchall D, et al. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain 2007 130 : 110 119.
-
(2007)
Brain
, vol.130
, pp. 110-119
-
-
Chinnery, P.F.1
Crompton, D.E.2
Birchall, D.3
-
40
-
-
0037413484
-
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome
-
Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003 348 : 33 40.
-
(2003)
N Engl J Med
, vol.348
, pp. 33-40
-
-
Hayflick, S.J.1
Westaway, S.K.2
Levinson, B.3
-
41
-
-
33750735406
-
Neurodegeneration with brain iron accumulation: From genes to pathogenesis
-
Hayflick SJ. Neurodegeneration with brain iron accumulation: from genes to pathogenesis. Semin Pediatr Neurol 2006 13 : 182 185.
-
(2006)
Semin Pediatr Neurol
, vol.13
, pp. 182-185
-
-
Hayflick, S.J.1
-
43
-
-
0031089850
-
Cranial MR findings in Wilson's disease
-
Saatci I, Topcu M, Baltaoglu FF, et al. Cranial MR findings in Wilson's disease. Acta Radiol 1997 38 : 250 258.
-
(1997)
Acta Radiol
, vol.38
, pp. 250-258
-
-
Saatci, I.1
Topcu, M.2
Baltaoglu, F.F.3
-
44
-
-
0025899272
-
Mid-brain pathology of Wilson's disease: MRI analysis of three cases
-
Hitoshi S, Iwata M, Yoshikawa K. Mid-brain pathology of Wilson's disease: MRI analysis of three cases. J Neurol Neurosurg Psychiatry 1991 54 : 624 626.
-
(1991)
J Neurol Neurosurg Psychiatry
, vol.54
, pp. 624-626
-
-
Hitoshi, S.1
Iwata, M.2
Yoshikawa, K.3
-
45
-
-
33846449858
-
Progressive motor syndrome in a welder with pallidal T1 hyperintensity on MRI: A two-year follow-up
-
Kenangil G, Ertan S, Sayilir I, et al. Progressive motor syndrome in a welder with pallidal T1 hyperintensity on MRI: a two-year follow-up. Mov Disord 2006 21 : 2197 2200.
-
(2006)
Mov Disord
, vol.21
, pp. 2197-2200
-
-
Kenangil, G.1
Ertan, S.2
Sayilir, I.3
-
46
-
-
33947217471
-
The natural history of neurological manganism over 18 years
-
Huang CC, Chu NS, Lu CS, et al. The natural history of neurological manganism over 18 years. Parkinsonism Relat Disord 2007 13 : 143 145.
-
(2007)
Parkinsonism Relat Disord
, vol.13
, pp. 143-145
-
-
Huang, C.C.1
Chu, N.S.2
Lu, C.S.3
-
47
-
-
0031918123
-
Long-term progression in chronic manganism: Ten years of follow-up
-
Huang CC, Chu NS, Lu CS, et al. Long-term progression in chronic manganism: ten years of follow-up. Neurology 1998 50 : 698 700.
-
(1998)
Neurology
, vol.50
, pp. 698-700
-
-
Huang, C.C.1
Chu, N.S.2
Lu, C.S.3
-
48
-
-
21144450743
-
Neurologic manifestations in welders with pallidal MRI T1 hyperintensity
-
Josephs KA, Ahlskog JE, Klos KJ, et al. Neurologic manifestations in welders with pallidal MRI T1 hyperintensity. Neurology 2005 64 : 2033 2039.
-
(2005)
Neurology
, vol.64
, pp. 2033-2039
-
-
Josephs, K.A.1
Ahlskog, J.E.2
Klos, K.J.3
-
49
-
-
0742323833
-
Basal ganglia: Anatomy, pathology, and imaging characteristics
-
Anderson JC, Costantino MM, Stratford T. Basal ganglia: anatomy, pathology, and imaging characteristics. Curr Probl Diagn Radiol 2004 33 : 28 41.
-
(2004)
Curr Probl Diagn Radiol
, vol.33
, pp. 28-41
-
-
Anderson, J.C.1
Costantino, M.M.2
Stratford, T.3
-
50
-
-
0017650747
-
Paroxysmal choreoathetosis as a presenting symptom in idiopathic hypoparathyroidism
-
Soffer D, Licht A, Yaar I, et al. Paroxysmal choreoathetosis as a presenting symptom in idiopathic hypoparathyroidism. J Neurol Neurosurg Psychiatry 1977 40 : 692 694.
-
(1977)
J Neurol Neurosurg Psychiatry
, vol.40
, pp. 692-694
-
-
Soffer, D.1
Licht, A.2
Yaar, I.3
-
51
-
-
0025091434
-
Generalized dystonia with bilateral striatal computed-tomographic lucencies in a patient with human immunodeficiency virus infection
-
Abbruzzese G, Rizzo F, Dall'Agata D, et al. Generalized dystonia with bilateral striatal computed-tomographic lucencies in a patient with human immunodeficiency virus infection. Eur Neurol 1990 30 : 271 273.
-
(1990)
Eur Neurol
, vol.30
, pp. 271-273
-
-
Abbruzzese, G.1
Rizzo, F.2
Dall'Agata, D.3
-
52
-
-
0025969013
-
Focal dystonia secondary to cerebral toxoplasmosis in a patient with acquired immune deficiency syndrome
-
Tolge CF, Factor SA. Focal dystonia secondary to cerebral toxoplasmosis in a patient with acquired immune deficiency syndrome. Mov Disord 1991 6 : 69 72.
-
(1991)
Mov Disord
, vol.6
, pp. 69-72
-
-
Tolge, C.F.1
Factor, S.A.2
-
53
-
-
0032843141
-
Delayed movement disorders after carbon monoxide poisoning
-
Choi IS, Cheon HY. Delayed movement disorders after carbon monoxide poisoning. Eur Neurol 1999 42 : 141 144.
-
(1999)
Eur Neurol
, vol.42
, pp. 141-144
-
-
Choi, I.S.1
Cheon, H.Y.2
-
54
-
-
0018876619
-
Calcification of the basal ganglia following carbon monoxide poisoning
-
Illum F. Calcification of the basal ganglia following carbon monoxide poisoning. Neuroradiology 1980 19 : 213 214.
-
(1980)
Neuroradiology
, vol.19
, pp. 213-214
-
-
Illum, F.1
-
55
-
-
0035297147
-
Bilateral striopallidodentate calcinosis: Clinical characteristics of patients seen in a registry
-
Manyam BV, Walters AS, Narla KR. Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. Mov Disord 2001 16 : 258 264.
-
(2001)
Mov Disord
, vol.16
, pp. 258-264
-
-
Manyam, B.V.1
Walters, A.S.2
Narla, K.R.3
|