-
1
-
-
0024228818
-
Epidemiology of focal and generalized dystonia in Rochester, Minnesota
-
Nutt J G., Muenter M D., Aronson A, Kurland L T., Melton L J. III. Epidemiology of focal and generalized dystonia in Rochester, Minnesota. Mov Disord 1988 3 3 188-194
-
(1988)
Mov Disord
, vol.3
, Issue.3
, pp. 188-194
-
-
Nutt, J.G.1
Muenter, M.D.2
Aronson, A.3
Kurland, L.T.4
Melton Iii, L.J.5
-
2
-
-
0033745810
-
A prevalence study of primary dystonia in eight European countries
-
Epidemiological Study of Dystonia in Europe (ESDE) Collaborative Group
-
Epidemiological Study of Dystonia in Europe (ESDE) Collaborative Group. A prevalence study of primary dystonia in eight European countries. J Neurol 2000 247 10 787-792
-
(2000)
J Neurol
, vol.247
, Issue.10
, pp. 787-792
-
-
-
3
-
-
0028819262
-
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
-
Risch N, de Leon D, Ozelius L et al. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population. Nat Genet 1995 9 2 152-159
-
(1995)
Nat Genet
, vol.9
, Issue.2
, pp. 152-159
-
-
Risch, N.1
De Leon, D.2
Ozelius, L.3
-
4
-
-
16944366666
-
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
-
DOI 10.1038/ng0997-40
-
Ozelius L J., Hewett J W., Page C E. et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997 17 1 40-48 (Pubitemid 27377530)
-
(1997)
Nature Genetics
, vol.17
, Issue.1
, 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
-
5
-
-
79952702136
-
Genetic and clinical features of primary torsion dystonia
-
Ozelius L J., Bressman S B. Genetic and clinical features of primary torsion dystonia. Neurobiol Dis 2011 42 2 127-135
-
(2011)
Neurobiol Dis
, vol.42
, Issue.2
, pp. 127-135
-
-
Ozelius, L.J.1
Bressman, S.B.2
-
6
-
-
56749153892
-
Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)
-
Zirn B, Grundmann K, Huppke P et al. Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). J Neurol Neurosurg Psychiatry 2008 79 12 1327-1330
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, Issue.12
, pp. 1327-1330
-
-
Zirn, B.1
Grundmann, K.2
Huppke, P.3
-
7
-
-
77956096589
-
Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia
-
Calakos N, Patel V D., Gottron M et al. Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. J Med Genet 2010 47 9 646-650
-
(2010)
J Med Genet
, vol.47
, Issue.9
, pp. 646-650
-
-
Calakos, N.1
Patel, V.D.2
Gottron, M.3
-
8
-
-
77953329372
-
The role of genes in causing dystonia
-
Schmidt A, Klein C. The role of genes in causing dystonia. Eur J Neurol 2010 17 Suppl 1 65-70
-
(2010)
Eur J Neurol
, vol.17
, Issue.SUPPL. 1
, pp. 65-70
-
-
Schmidt, A.1
Klein, C.2
-
9
-
-
0041320760
-
Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation
-
DOI 10.1093/brain/awg209
-
Edwards M J., Huang Y Z., Wood N W., Rothwell J C., Bhatia K P. Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation. Brain 2003 126 Pt 9 2074-2080 (Pubitemid 37059447)
-
(2003)
Brain
, vol.126
, Issue.9
, pp. 2074-2080
-
-
Edwards, M.J.1
Huang, Y.-Z.2
Wood, N.W.3
Rothwell, J.C.4
Bhatia, K.P.5
-
11
-
-
33645814863
-
Effects of genetic variations in the dystonia protein torsinA: Identification of polymorphism at residue 216 as protein modifier
-
Kock N, Naismith T V., Boston H E. et al. Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum Mol Genet 2006 15 8 1355-1364
-
(2006)
Hum Mol Genet
, vol.15
, Issue.8
, pp. 1355-1364
-
-
Kock, N.1
Naismith, T.V.2
Boston, H.E.3
-
12
-
-
34250872219
-
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia
-
DOI 10.1086/518427
-
Risch N J., Bressman S B., Senthil G, Ozelius L J. Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia. Am J Hum Genet 2007 80 6 1188-1193 (Pubitemid 47579354)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.6
, pp. 1188-1193
-
-
Risch, N.J.1
Bressman, S.B.2
Senthil, G.3
Ozelius, L.J.4
-
13
-
-
44949188596
-
Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism
-
Kamm C, Fischer H, Garavaglia B et al. Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology 2008 70 23 2261-2262
-
(2008)
Neurology
, vol.70
, Issue.23
, pp. 2261-2262
-
-
Kamm, C.1
Fischer, H.2
Garavaglia, B.3
-
14
-
-
77953343290
-
The role of torsinA in dystonia
-
Granata A, Warner T T. The role of torsinA in dystonia. Eur J Neurol 2010 17 Suppl 1 81-87
-
(2010)
Eur J Neurol
, vol.17
, Issue.SUPPL. 1
, pp. 81-87
-
-
Granata, A.1
Warner, T.T.2
-
16
-
-
70449534000
-
Primary dystonia: Molecules and mechanisms
-
Tanabe L M., Kim C E., Alagem N, Dauer W T. Primary dystonia: molecules and mechanisms. Nat Rev Neurol 2009 5 11 598-609
-
(2009)
Nat Rev Neurol
, vol.5
, Issue.11
, pp. 598-609
-
-
Tanabe, L.M.1
Kim, C.E.2
Alagem, N.3
Dauer, W.T.4
-
17
-
-
79952697915
-
Molecular pathways in dystonia
-
Bragg D C., Armata I A., Nery F C., Breakefield X O., Sharma N. Molecular pathways in dystonia. Neurobiol Dis 2011 42 2 136-147
-
(2011)
Neurobiol Dis
, vol.42
, Issue.2
, pp. 136-147
-
-
Bragg, D.C.1
Armata, I.A.2
Nery, F.C.3
Breakefield, X.O.4
Sharma, N.5
-
19
-
-
81955164822
-
Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal
-
In press
-
Wilcox R A., Winkler S, Lohmann K, Klein C. Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal. Mov Disord 2011 In press
-
(2011)
Mov Disord
-
-
Wilcox, R.A.1
Winkler, S.2
Lohmann, K.3
Klein, C.4
-
20
-
-
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 3 286-288
-
(2009)
Nat Genet
, vol.41
, Issue.3
, pp. 286-288
-
-
Fuchs, T.1
Gavarini, S.2
Saunders-Pullman, R.3
-
21
-
-
73949087195
-
Mutation screening of the DYT6/THAP1 gene in Italy
-
Bonetti M, Barzaghi C, Brancati F et al. Mutation screening of the DYT6/THAP1 gene in Italy. Mov Disord 2009 24 16 2424-2427
-
(2009)
Mov Disord
, vol.24
, Issue.16
, pp. 2424-2427
-
-
Bonetti, M.1
Barzaghi, C.2
Brancati, F.3
-
22
-
-
64749086402
-
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: A genetic screening study
-
Djarmati A, Schneider S A., Lohmann K et al. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009 8 5 447-452
-
(2009)
Lancet Neurol
, vol.8
, Issue.5
, pp. 447-452
-
-
Djarmati, A.1
Schneider, S.A.2
Lohmann, K.3
-
23
-
-
64349090856
-
Mutations in THAP1 (DYT6) in early-onset dystonia: A genetic screening study
-
Bressman S B., Raymond D, Fuchs T, Heiman G A., Ozelius L J., Saunders-Pullman R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 2009 8 5 441-446
-
(2009)
Lancet Neurol
, vol.8
, Issue.5
, pp. 441-446
-
-
Bressman, S.B.1
Raymond, D.2
Fuchs, T.3
Heiman, G.A.4
Ozelius, L.J.5
Saunders-Pullman, R.6
-
24
-
-
73949091414
-
Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia
-
Paisán-Ruiz C, Ruiz-Martinez J, Ruibal M et al. Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia. Mov Disord 2009 24 16 2428-2429
-
(2009)
Mov Disord
, vol.24
, Issue.16
, pp. 2428-2429
-
-
Paisán-Ruiz, C.1
Ruiz-Martinez, J.2
Ruibal, M.3
-
25
-
-
79951554515
-
Screening of the THAP1 gene in patients with early-onset dystonia: Myoclonic jerks are part of the dystonia 6 phenotype
-
Clot F, Grabli D, Burbaud P et al. Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. Neurogenetics 2011 12 1 87-89
-
(2011)
Neurogenetics
, vol.12
, Issue.1
, pp. 87-89
-
-
Clot, F.1
Grabli, D.2
Burbaud, P.3
-
26
-
-
77958521426
-
DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation
-
Groen J L., Ritz K, Contarino M F. et al. DYT6 dystonia: mutation screening, phenotype, and response to deep brain stimulation. Mov Disord 2010 25 14 2420-2427
-
(2010)
Mov Disord
, vol.25
, Issue.14
, pp. 2420-2427
-
-
Groen, J.L.1
Ritz, K.2
Contarino, M.F.3
-
27
-
-
77949372189
-
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia
-
Houlden H, Schneider S A., Paudel R et al. THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Neurology 2010 74 10 846-850
-
(2010)
Neurology
, vol.74
, Issue.10
, pp. 846-850
-
-
Houlden, H.1
Schneider, S.A.2
Paudel, R.3
-
28
-
-
77956818930
-
Prevalence of THAP1 sequence variants in German patients with primary dystonia
-
Söhn A S., Glöckle N, Doetzer A D. et al. Prevalence of THAP1 sequence variants in German patients with primary dystonia. Mov Disord 2010 25 12 1982-1986
-
(2010)
Mov Disord
, vol.25
, Issue.12
, pp. 1982-1986
-
-
Söhn, A.S.1
Glöckle, N.2
Doetzer, A.D.3
-
29
-
-
77958578230
-
Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families
-
Zittel S, Moll C K., Brüggemann N et al. Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families. Mov Disord 2010 25 14 2405-2412
-
(2010)
Mov Disord
, vol.25
, Issue.14
, pp. 2405-2412
-
-
Zittel, S.1
Moll, C.K.2
Brüggemann, N.3
-
30
-
-
74949103804
-
Novel THAP1 sequence variants in primary dystonia
-
Xiao J, Zhao Y, Bastian R W. et al. Novel THAP1 sequence variants in primary dystonia. Neurology 2010 74 3 229-238
-
(2010)
Neurology
, vol.74
, Issue.3
, pp. 229-238
-
-
Xiao, J.1
Zhao, Y.2
Bastian, R.W.3
-
31
-
-
80052259998
-
THAP1 mutations are infrequent in spasmodic dysphonia
-
Apr
-
Groen J L., Yildirim E, Ritz K et al. THAP1 mutations are infrequent in spasmodic dysphonia. Mov Disord 2011 Apr 29
-
(2011)
Mov Disord
, pp. 29
-
-
Groen, J.L.1
Yildirim, E.2
Ritz, K.3
-
32
-
-
79961209907
-
Singular DYT6 phenotypes in association with new THAP1 frameshift mutations
-
Blanchard A, Roubertie A, Simonetta-Moreau M et al. Singular DYT6 phenotypes in association with new THAP1 frameshift mutations. Mov Disord 2011 26 9 1775-1777
-
(2011)
Mov Disord
, vol.26
, Issue.9
, pp. 1775-1777
-
-
Blanchard, A.1
Roubertie, A.2
Simonetta-Moreau, M.3
-
33
-
-
79955136529
-
DYT 6a novel THAP1 mutation with excellent effect on pallidal DBS
-
Jech R, Bare M, Kepelová A, Urgok D, Havránková P, Rika E. DYT 6a novel THAP1 mutation with excellent effect on pallidal DBS. Mov Disord 2011 26 5 924-925
-
(2011)
Mov Disord
, vol.26
, Issue.5
, pp. 924-925
-
-
Jech, R.1
Bare, M.2
Kepelová, A.3
Urgok, D.4
Havránková, P.5
Rika, E.6
-
34
-
-
79955079909
-
Homozygous THAP1 mutations as cause of early-onset generalized dystonia
-
Schneider S A., Ramirez A, Shafiee K et al. Homozygous THAP1 mutations as cause of early-onset generalized dystonia. Mov Disord 2011 26 5 858-861
-
(2011)
Mov Disord
, vol.26
, Issue.5
, pp. 858-861
-
-
Schneider, S.A.1
Ramirez, A.2
Shafiee, K.3
-
35
-
-
79951599929
-
Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China
-
Cheng F B., Wan X H., Feng J C., Wang L, Yang Y M., Cui L Y. Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. Eur J Neurol 2011 18 3 497-503
-
(2011)
Eur J Neurol
, vol.18
, Issue.3
, pp. 497-503
-
-
Cheng, F.B.1
Wan, X.H.2
Feng, J.C.3
Wang, L.4
Yang, Y.M.5
Cui, L.Y.6
-
36
-
-
78650227185
-
Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion
-
De Carvalho Aguiar P, Fuchs T, Borges V et al. Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion. Mov Disord 2010 25 16 2854-2857
-
(2010)
Mov Disord
, vol.25
, Issue.16
, pp. 2854-2857
-
-
De Carvalho Aguiar, P.1
Fuchs, T.2
Borges, V.3
-
37
-
-
78149483955
-
Direct interaction between causative genes of DYT1 and DYT6 primary dystonia
-
Gavarini S, Cayrol C, Fuchs T et al. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann Neurol 2010 68 4 549-553
-
(2010)
Ann Neurol
, vol.68
, Issue.4
, pp. 549-553
-
-
Gavarini, S.1
Cayrol, C.2
Fuchs, T.3
-
38
-
-
18744396089
-
The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity
-
DOI 10.1073/pnas.0406882102
-
Clouaire T, Roussigne M, Ecochard V, Mathe C, Amalric F, Girard J P. The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity. Proc Natl Acad Sci U S A 2005 102 19 6907-6912 (Pubitemid 40675415)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.19
, pp. 6907-6912
-
-
Clouaire, T.1
Roussigne, M.2
Ecochard, V.3
Mathe, C.4
Amalric, F.5
Girard, J.-P.6
-
39
-
-
0038330739
-
THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis- response-4 (Par-4) to PML nuclear bodies
-
DOI 10.1038/sj.onc.1206271
-
Roussigne M, Cayrol C, Clouaire T, Amalric F, Girard J P. THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies. Oncogene 2003 22 16 2432-2442 (Pubitemid 36564817)
-
(2003)
Oncogene
, vol.22
, Issue.16
, pp. 2432-2442
-
-
Roussigne, M.1
Cayrol, C.2
Clouaire, T.3
Amalric, F.4
Girard, J.-P.5
-
40
-
-
33846305752
-
The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes
-
DOI 10.1182/blood-2006-03-012013
-
Cayrol C, Lacroix C, Mathe C et al. The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes. Blood 2007 109 2 584-594 (Pubitemid 46115969)
-
(2007)
Blood
, vol.109
, Issue.2
, pp. 584-594
-
-
Cayrol, C.1
Lacroix, C.2
Mathe, C.3
Ecochard, V.4
Ceribelli, M.5
Loreau, E.6
Lazar, V.7
Dessen, P.8
Mantovani, R.9
Aguilar, L.10
Girard, J.-P.11
-
41
-
-
0032833041
-
Participation of prostate apoptosis response-4 in degeneration of dopaminergic neurons in models of Parkinson's disease
-
DOI 10.1002/1531-8249(199910)46:4< 587::AID-ANA6>3.0.CO;2-M
-
Duan W, Zhang Z, Gash D M., Mattson M P. Participation of prostate apoptosis response-4 in degeneration of dopaminergic neurons in models of Parkinson's disease. Ann Neurol 1999 46 4 587-597 (Pubitemid 29466437)
-
(1999)
Annals of Neurology
, vol.46
, Issue.4
, pp. 587-597
-
-
Duan, W.1
Zhang, Z.2
Gash, D.M.3
Mattson, M.P.4
-
42
-
-
78149479301
-
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)
-
Kaiser F J., Osmanoric A, Rakovic A et al. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 2010 68 4 554-559
-
(2010)
Ann Neurol
, vol.68
, Issue.4
, pp. 554-559
-
-
Kaiser, F.J.1
Osmanoric, A.2
Rakovic, A.3
-
43
-
-
0035091598
-
DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset
-
DOI 10.1002/ana.73
-
Valente E M., Bentivoglio A R., Cassetta E et al. DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.1336.32 in an Italian family with cranial-cervical or upper limb onset. Ann Neurol 2001 49 3 362-366 (Pubitemid 32202790)
-
(2001)
Annals of Neurology
, vol.49
, Issue.3
, pp. 362-366
-
-
Valente, E.M.1
Bentivoglio, A.R.2
Cassetta, E.3
Dixon, P.H.4
Davis, M.B.5
Ferraris, A.6
Ialongo, T.7
Frontali, M.8
Wood, N.W.9
Albanese, A.10
-
44
-
-
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 4 287-293
-
(2008)
Neurogenetics
, vol.9
, Issue.4
, pp. 287-293
-
-
Chouery, E.1
Kfoury, J.2
Delague, V.3
-
45
-
-
34249653516
-
Do primary adult-onset focal dystonias share aetiological factors?
-
DOI 10.1093/brain/awl355
-
Defazio G, Berardelli A, Hallett M. Do primary adult-onset focal dystonias share aetiological factors? Brain 2007 130 Pt 5 1183-1193 (Pubitemid 47355939)
-
(2007)
Brain
, vol.130
, Issue.5
, pp. 1183-1193
-
-
Defazio, G.1
Berardelli, A.2
Hallett, M.3
-
46
-
-
0026099811
-
A genetic study of idiopathic focal dystonias
-
Waddy H M., Fletcher N A., Harding A E., Marsden C D. A genetic study of idiopathic focal dystonias. Ann Neurol 1991 29 3 320-324
-
(1991)
Ann Neurol
, vol.29
, Issue.3
, pp. 320-324
-
-
Waddy, H.M.1
Fletcher, N.A.2
Harding, A.E.3
Marsden, C.D.4
-
47
-
-
0029798561
-
Idiopathic torsion dystonia: Assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution
-
Leube B, Rudnicki D, Ratzlaff T, Kessler K R., Benecke R, Auburger G. Idiopathic torsion dystonia: assignment of a gene to chromosome 18p in a German family with adult onset, autosomal dominant inheritance and purely focal distribution. Hum Mol Genet 1996 5 10 1673-1677 (Pubitemid 26328888)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.10
, pp. 1673-1677
-
-
Leube, B.1
Rudnicki, D.2
Ratzlaff, T.3
Kessler, K.R.4
Benecke, R.5
Auburger, G.6
-
48
-
-
79959935048
-
A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3
-
Norgren N, Mattson E, Forsgren L, Holmberg M. A high-penetrance form of late-onset torsion dystonia maps to a novel locus (DYT21) on chromosome 2q14.3-q21.3. Neurogenetics 2011 12 2 137-143
-
(2011)
Neurogenetics
, vol.12
, Issue.2
, pp. 137-143
-
-
Norgren, N.1
Mattson, E.2
Forsgren, L.3
Holmberg, M.4
-
49
-
-
0032805428
-
Primary torsion dystonia: The search for genes is not over
-
Jarman P R., del Grosso N, Valente E M. et al. Primary torsion dystonia: the search for genes is not over. J Neurol Neurosurg Psychiatry 1999 67 3 395-397 (Pubitemid 29392604)
-
(1999)
Journal of Neurology Neurosurgery and Psychiatry
, vol.67
, Issue.3
, pp. 395-397
-
-
Jarman, P.R.1
Del Grosso, N.2
Valente, E.M.3
Leube, B.4
Cassetta, E.5
Bentivoglio, A.R.6
Waddy, H.M.7
Uitti, R.J.8
Maraganore, D.M.9
Albanese, A.10
Frontali, M.11
Auburger, G.12
Bressman, S.B.13
Wood, N.W.14
Nygaard, T.G.15
-
50
-
-
67749110057
-
The monogenic primary dystonias
-
Müller U. The monogenic primary dystonias. Brain 2009 132 Pt 8 2005-2025
-
(2009)
Brain
, vol.132
, Issue.PART 8
, pp. 2005-2025
-
-
Müller, U.1
-
51
-
-
79952284144
-
The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, Lubag)
-
Lee L V., Rivera C, Teleg R A. et al. The unique phenomenology of sex-linked dystonia parkinsonism (XDP, DYT3, Lubag). Int J Neurosci 2011 121 Suppl 1 3-11
-
(2011)
Int J Neurosci
, vol.121
, Issue.SUPPL. 1
, pp. 3-11
-
-
Lee, L.V.1
Rivera, C.2
Teleg, R.A.3
-
52
-
-
0027268724
-
Neuropathology of lubag (X-linked dystonia parkinsonism)
-
Waters C H., Faust P L., Powers J et al. Neuropathology of lubag (x-linked dystonia parkinsonism). Mov Disord 1993 8 3 387-390 (Pubitemid 23212558)
-
(1993)
Movement Disorders
, vol.8
, Issue.3
, pp. 387-390
-
-
Waters, C.H.1
Faust, P.L.2
Powers, J.3
Vinters, H.4
Moskowitz, C.5
Nygaard, T.6
Hunt, A.L.7
Fahn, S.8
-
53
-
-
0036869215
-
Phenomenology of Lubag or X-linked dystonia-parkinsonism
-
Evidente V G., Advincula J, Esteban R et al. Phenomenology of Lubag or X-linked dystonia-parkinsonism. Mov Disord 2002 17 6 1271-1277
-
(2002)
Mov Disord
, vol.17
, Issue.6
, pp. 1271-1277
-
-
Evidente, V.G.1
Advincula, J.2
Esteban, R.3
-
54
-
-
21844443362
-
Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism
-
DOI 10.1002/ana.20513
-
Goto S, Lee L V., Munoz E L. et al. Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism. Ann Neurol 2005 58 1 7-17 (Pubitemid 40962456)
-
(2005)
Annals of Neurology
, vol.58
, Issue.1
, pp. 7-17
-
-
Goto, S.1
Lee, L.V.2
Munoz, E.L.3
Tooyama, I.4
Tamiya, G.5
Makino, S.6
Ando, S.7
Dantes, M.B.8
Yamada, K.9
Matsumoto, S.10
Shimazu, H.11
Kuratsu, J.-I.12
Hirano, A.13
Kaji, R.14
-
55
-
-
33847183498
-
Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism
-
Makino S, Kaji R, Ando S et al. Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. Am J Hum Genet 2007 80 3 393-406
-
(2007)
Am J Hum Genet
, vol.80
, Issue.3
, pp. 393-406
-
-
Makino, S.1
Kaji, R.2
Ando, S.3
-
56
-
-
79954463100
-
Dopa-responsive dystonia
-
Segawa M. Dopa-responsive dystonia. Handb Clin Neurol 2011 100 539-557
-
(2011)
Handb Clin Neurol
, vol.100
, pp. 539-557
-
-
Segawa, M.1
-
57
-
-
80052767371
-
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
-
Arrabal L, Teresa L, Sánchez-Alcudia R et al. Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. Neurogenetics 2011 12 3 183-191
-
(2011)
Neurogenetics
, vol.12
, Issue.3
, pp. 183-191
-
-
Arrabal, L.1
Teresa, L.2
Sánchez-Alcudia, R.3
-
58
-
-
0037172668
-
Neuropathology of a case of doparesponsive dystonia associated with a new genetic locus, DYT14
-
Grötzsch H, Pizzolato G P., Ghika J et al. Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14. Neurology 2002 58 12 1839-1842 (Pubitemid 34663588)
-
(2002)
Neurology
, vol.58
, Issue.12
, pp. 1839-1842
-
-
Grotzsch, H.1
Pizzolato, G.-P.2
Ghika, J.3
Schorderet, D.4
Vingerhoets, F.J.5
Landis, T.6
Burkhard, P.R.7
-
59
-
-
42049103657
-
Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: Redefining DYT14 as DYT5
-
DOI 10.1212/01.wnl.0000275527.35752.c5, PII 0000611420080415100003
-
Wider C, Melquist S, Hauf M et al. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. Neurology 2008 70 16 Pt 2 1377-1383 (Pubitemid 351521928)
-
(2008)
Neurology
, vol.70
, Issue.16 PART 2
, pp. 1377-1383
-
-
Wider, C.1
Melquist, S.2
Hauf, M.3
Solida, A.4
Cobb, S.A.5
Kachergus, J.M.6
Gass, J.7
Coon, K.D.8
Baker, M.9
Cannon, A.10
Stephan, D.A.11
Schorderet, D.F.12
Ghika, J.13
Burkhard, P.R.14
Kapatos, G.15
Hutton, M.16
Farrer, M.J.17
Wszolek, Z.K.18
Vingerhoets, F.J.G.19
-
60
-
-
33947131242
-
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene
-
DOI 10.1093/brain/awl340
-
Brashear A, Dobyns W B., de Carvalho Aguiar P et al. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene. Brain 2007 130 Pt 3 828-835 (Pubitemid 46410729)
-
(2007)
Brain
, vol.130
, Issue.3
, pp. 828-835
-
-
Brashear, A.1
Dobyns, W.B.2
De Carvalho Aguiar, P.3
Borg, M.4
Frijns, C.J.M.5
Gollamudi, S.6
Green, A.7
Guimaraes, J.8
Haake, B.C.9
Klein, C.10
Linazasoro, G.11
Munchau, A.12
Raymond, D.13
Riley, D.14
Saunders-Pullman, R.15
Tijssen, M.A.J.16
Webb, D.17
Zaremba, J.18
Bressman, S.B.19
Ozelius, L.J.20
more..
-
61
-
-
67249146347
-
A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism
-
Blanco-Arias P, Einholm A P., Mamsa H et al. A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism. Hum Mol Genet 2009 18 13 2370-2377
-
(2009)
Hum Mol Genet
, vol.18
, Issue.13
, pp. 2370-2377
-
-
Blanco-Arias, P.1
Einholm, A.P.2
Mamsa, H.3
-
62
-
-
77956197644
-
The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site
-
Einholm A P., Toustrup-Jensen M S., Holm R, Andersen J P., Vilsen B. The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site. J Biol Chem 2010 285 34 26245-26254
-
(2010)
J Biol Chem
, vol.285
, Issue.34
, pp. 26245-26254
-
-
Einholm, A.P.1
Toustrup-Jensen, M.S.2
Holm, R.3
Andersen, J.P.4
Vilsen, B.5
-
63
-
-
33745860960
-
+ interaction by distinct mechanisms
-
DOI 10.1074/jbc.M601780200
-
Rodacker V, Toustrup-Jensen M, Vilsen B. Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms. J Biol Chem 2006 281 27 18539-18548 (Pubitemid 44035513)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.27
, pp. 18539-18548
-
-
Rodacker, V.1
Toustrup-Jensen, M.2
Vilsen, B.3
-
64
-
-
20444416430
-
Genetic heterogeneity in rapid onset dystonia-parkinsonism: Description of a new family
-
DOI 10.1136/jnnp.2004.046730
-
Kabakci K, Isbruch K, Schilling K et al. Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family. J Neurol Neurosurg Psychiatry 2005 76 6 860-862 (Pubitemid 40805819)
-
(2005)
Journal of Neurology, Neurosurgery and Psychiatry
, vol.76
, Issue.6
, pp. 860-862
-
-
Kabakci, K.1
Isbruch, K.2
Schilling, K.3
Hedrich, K.4
De Carvalho Aguiar, P.5
Ozelius, L.J.6
Kramer, P.L.7
Schwarz, M.H.R.M.8
Klein, C.9
-
65
-
-
39149087968
-
DYT16, a novel young-onset dystonia-parkinsonism disorder: Identification of a segregating mutation in the stress-response protein PRKRA
-
Camargos S, Scholz S, Simn-Sánchez J et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol 2008 7 3 207-215
-
(2008)
Lancet Neurol
, vol.7
, Issue.3
, pp. 207-215
-
-
Camargos, S.1
Scholz, S.2
Simn-Sánchez, J.3
-
66
-
-
41949113299
-
A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient
-
DOI 10.1016/S1474-4422(08)70075-9, PII S1474442208700759
-
Seibler P, Djarmati A, Langpap B et al. A heterozygous frameshift mutation in PRKRA (DYT16) associated with generalised dystonia in a German patient. Lancet Neurol 2008 7 5 380-381 (Pubitemid 351508475)
-
(2008)
The Lancet Neurology
, vol.7
, Issue.5
, pp. 380-381
-
-
Seibler, P.1
Djarmati, A.2
Langpap, B.3
Hagenah, J.4
Schmidt, A.5
Bruggemann, N.6
Siebner, H.7
Jabusch, H.-C.8
Altenmuller, E.9
Munchau, A.10
Lohmann, K.11
Klein, C.12
-
67
-
-
79954477841
-
Myoclonus-dystonia syndrome
-
Nardocci N. Myoclonus-dystonia syndrome. Handb Clin Neurol 2011 100 563-575
-
(2011)
Handb Clin Neurol
, vol.100
, pp. 563-575
-
-
Nardocci, N.1
-
68
-
-
0025084837
-
Alcohol-responsive myoclonic dystonia in a large family: Dominant inheritance and phenotypic variation
-
Kyllerman M, Forsgren L, Sanner G, Holmgren G, Wahlström J, Drugge U. Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. Mov Disord 1990 5 4 270-279 (Pubitemid 20373606)
-
(1990)
Movement Disorders
, vol.5
, Issue.4
, pp. 270-279
-
-
Kyllerman, M.1
Forsgren, L.2
Sanner, G.3
Holmgren, G.4
Wahlstrom, J.5
Drugge, U.6
-
69
-
-
80052294248
-
Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: A systematic review
-
Jun
-
Peall K J., Waite A J., Blake D J., Owen M J., Morris H R. Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: A systematic review. Mov Disord 2011 Jun 28
-
(2011)
Mov Disord
, pp. 28
-
-
Peall, K.J.1
Waite, A.J.2
Blake, D.J.3
Owen, M.J.4
Morris, H.R.5
-
70
-
-
67651183916
-
Myoclonus-dystonia: An update
-
Kinugawa K, Vidailhet M, Clot F, Apartis E, Grabli D, Roze E. Myoclonus-dystonia: an update. Mov Disord 2009 24 4 479-489
-
(2009)
Mov Disord
, vol.24
, Issue.4
, pp. 479-489
-
-
Kinugawa, K.1
Vidailhet, M.2
Clot, F.3
Apartis, E.4
Grabli, D.5
Roze, E.6
-
71
-
-
34848872531
-
Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype
-
DOI 10.1093/brain/awm209
-
Asmus F, Hjermind L E., Dupont E et al. Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype. Brain 2007 130 Pt 10 2736-2745 (Pubitemid 47511717)
-
(2007)
Brain
, vol.130
, Issue.10
, pp. 2736-2745
-
-
Asmus, F.1
Hjermind, L.E.2
Dupont, E.3
Wagenstaller, J.4
Haberlandt, E.5
Munz, M.6
Strom, T.M.7
Gasser, T.8
-
72
-
-
52649118148
-
Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: Paternal deletion of the epsilon-sarcoglycan (SGCE) gene
-
Bonnet C, Grgoire M J., Vibert M, Raffo E, Leheup B, Jonveaux P. Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene. J Hum Genet 2008 53 10 876-885
-
(2008)
J Hum Genet
, vol.53
, Issue.10
, pp. 876-885
-
-
Bonnet, C.1
Grgoire, M.J.2
Vibert, M.3
Raffo, E.4
Leheup, B.5
Jonveaux, P.6
-
73
-
-
54049098434
-
Myoclonus-dystonia due to maternal uniparental disomy
-
Guettard E, Portnoi M F., Lohmann-Hedrich K et al. Myoclonus-dystonia due to maternal uniparental disomy. Arch Neurol 2008 65 10 1380-1385
-
(2008)
Arch Neurol
, vol.65
, Issue.10
, pp. 1380-1385
-
-
Guettard, E.1
Portnoi, M.F.2
Lohmann-Hedrich, K.3
-
74
-
-
17944378309
-
Mutations in the gene encoding ε-sarcoglycan cause myoclonus-dystonia syndrome
-
DOI 10.1038/ng709
-
Zimprich A, Grabowski M, Asmus F et al. Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nat Genet 2001 29 1 66-69 (Pubitemid 32801811)
-
(2001)
Nature Genetics
, vol.29
, Issue.1
, pp. 66-69
-
-
Zimprich, A.1
Grabowski, M.2
Asmus, F.3
Naumann, M.4
Berg, D.5
Bertram, M.6
Scheidtmann, K.7
Kern, P.8
Winkelmann, J.9
Muller-Myhsok, B.10
Riedel, L.11
Bauer, M.12
Muller, T.13
Castro, M.14
Mitinger, T.15
Strom, T.M.16
Gasser, T.17
-
75
-
-
79958729431
-
Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia
-
Beukers R J., Foncke E M., van der Meer J N., Veltman D J., Tijssen M A. Functional magnetic resonance imaging evidence of incomplete maternal imprinting in myoclonus-dystonia. Arch Neurol 2011 68 6 802-805
-
(2011)
Arch Neurol
, vol.68
, Issue.6
, pp. 802-805
-
-
Beukers, R.J.1
Foncke, E.M.2
Van Der Meer, J.N.3
Veltman, D.J.4
Tijssen, M.A.5
-
77
-
-
34249100202
-
Refinement of the DYT15 locus in myoclonus dystonia
-
DOI 10.1002/mds.21400
-
Han F, Racacho L, Lang A E., Bulman D E., Grimes D A. Refinement of the DYT15 locus in myoclonus dystonia. Mov Disord 2007 22 6 888-892 (Pubitemid 46800118)
-
(2007)
Movement Disorders
, vol.22
, Issue.6
, pp. 888-892
-
-
Han, F.1
Racacho, L.2
Lang, A.E.3
Bulman, D.E.4
Grimes, D.A.5
-
78
-
-
0037159230
-
A novel locus for inherited myoclonus-dystonia on 18p11
-
Grimes D A., Han F, Lang A E., St George-Hyssop P, Racacho L, Bulman D E. A novel locus for inherited myoclonus-dystonia on 18p11. Neurology 2002 59 8 1183-1186 (Pubitemid 35192387)
-
(2002)
Neurology
, vol.59
, Issue.8
, pp. 1183-1186
-
-
Grimes, D.A.1
Han, F.2
Lang, A.E.3
St. George-Hyssop, P.4
Racacho, L.5
Bulman, D.E.6
-
79
-
-
34249086525
-
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia
-
DOI 10.1212/01.wnl.0000262029.91552.e0, PII 0000611420070522000005
-
Bruno M K., Lee H Y., Auburger G W. et al. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology 2007 68 21 1782-1789 (Pubitemid 46791390)
-
(2007)
Neurology
, vol.68
, Issue.21
, pp. 1782-1789
-
-
Bruno, M.K.1
Lee, H.-Y.2
Auburger, G.W.J.3
Friedman, A.4
Nielsen, J.E.5
Lang, A.E.6
Bertini, E.7
Van Bogaert, P.8
Averyanov, Y.9
Hallett, M.10
Gwinn-Hardy, K.11
Sorenson, B.12
Pandolfo, M.13
Kwiecinski, H.14
Servidei, S.15
Fu, Y.-H.16
Ptacek, L.17
-
80
-
-
3142721995
-
Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis
-
DOI 10.1001/archneur.61.7.1025
-
Rainier S, Thomas D, Tokarz D et al. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol 2004 61 7 1025-1029 (Pubitemid 38915943)
-
(2004)
Archives of Neurology
, vol.61
, Issue.7
, pp. 1025-1029
-
-
Rainier, S.1
Thomas, D.2
Tokarz, D.3
Ming, L.4
Bui, M.5
Plein, E.6
Zhao, X.7
Lemons, R.8
Albin, R.9
Delaney, C.10
Alvarado, D.11
Fink, J.K.12
-
81
-
-
19944407549
-
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway
-
DOI 10.1093/hmg/ddh330
-
Lee H Y., Xu Y, Huang Y et al. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Hum Mol Genet 2004 13 24 3161-3170 (Pubitemid 40045268)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.24
, pp. 3161-3170
-
-
Lee, H.-Y.1
Xu, Y.2
Huang, Y.3
Ahn, A.H.4
Auburger, G.W.J.5
Pandolfo, M.6
Kwiecinski, H.7
Grimes, D.A.8
Lang, A.E.9
Nielsen, J.E.10
Averyanov, Y.11
Servidei, S.12
Friedman, A.13
Van Bogaert, P.14
Abramowicz, M.J.15
Bruno, M.K.16
Sorensen, B.F.17
Tang, L.18
Fu, Y.-H.19
Ptacek, L.J.20
more..
-
82
-
-
65349178121
-
The paroxysmal dyskinesias
-
van Rootselaar A F., Schade van Westrum S, Velis D N., Tijssen M A. The paroxysmal dyskinesias. Pract Neurol 2009 9 2 102-109
-
(2009)
Pract Neurol
, vol.9
, Issue.2
, pp. 102-109
-
-
Van Rootselaar, A.F.1
Schade Van Westrum, S.2
Velis, D.N.3
Tijssen, M.A.4
-
83
-
-
61849106125
-
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence
-
Ghezzi D, Viscomi C, Ferlini A et al. Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. Hum Mol Genet 2009 18 6 1058-1064
-
(2009)
Hum Mol Genet
, vol.18
, Issue.6
, pp. 1058-1064
-
-
Ghezzi, D.1
Viscomi, C.2
Ferlini, A.3
-
84
-
-
33745343567
-
Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia
-
DOI 10.1212/01.wnl.0000217332.51740.7c, PII 0000611420060523000033
-
Spacey S D., Adams P J., Lam P C. et al. Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. Neurology 2006 66 10 1588-1590 (Pubitemid 43958565)
-
(2006)
Neurology
, vol.66
, Issue.10
, pp. 1588-1590
-
-
Spacey, S.D.1
Adams, P.J.2
Lam, P.C.P.3
Materek, L.A.4
Stoessl, A.J.5
Snutch, T.P.6
Hsiung, G.-Y.R.7
-
86
-
-
46849102968
-
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
-
DOI 10.1093/brain/awn113
-
Suls A, Dedeken P, Goffin K et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008 131 Pt 7 1831-1844 (Pubitemid 351957463)
-
(2008)
Brain
, vol.131
, Issue.7
, pp. 1831-1844
-
-
Suls, A.1
Dedeken, P.2
Goffin, K.3
Van Esch, H.4
Dupont, P.5
Cassiman, D.6
Kempfle, J.7
Wuttke, T.V.8
Weber, Y.9
Lerche, H.10
Afawi, Z.11
Vandenberghe, W.12
Korczyn, A.D.13
Berkovic, S.F.14
Ekstein, D.15
Kivity, S.16
Ryvlin, P.17
Claes, L.R.F.18
Deprez, L.19
Maljevic, S.20
Vargas, A.21
Van Dyck, T.22
Goossens, D.23
Del-Favero, J.24
Van Laere, K.25
De Jonghe, P.26
Van Paesschen, W.27
more..
-
87
-
-
45749108564
-
GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
-
DOI 10.1172/JCI34438
-
Weber Y G., Storch A, Wuttke T V. et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 2008 118 6 2157-2168 (Pubitemid 351872334)
-
(2008)
Journal of Clinical Investigation
, vol.118
, Issue.6
, pp. 2157-2168
-
-
Weber, Y.G.1
Storch, A.2
Wuttke, T.V.3
Brockmann, K.4
Kempfle, J.5
Maljevic, S.6
Margari, L.7
Kamm, C.8
Schneider, S.A.9
Huber, S.M.10
Pekrun, A.11
Roebling, R.12
Seebohm, G.13
Koka, S.14
Lang, C.15
Kraft, E.16
Blazevic, D.17
Salvo-Vargas, A.18
Fauler, M.19
Mottaghy, F.M.20
Munchau, A.21
Edwards, M.J.22
Presicci, A.23
Margari, F.24
Gasser, T.25
Lang, F.26
Bhatia, K.P.27
Lehmann-Horn, F.28
Lerche, H.29
more..
-
88
-
-
69949186743
-
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias
-
Schneider S A., Paisan-Ruiz C, Garcia-Gorostiaga I et al. GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias. Mov Disord 2009 24 11 1684-1688
-
(2009)
Mov Disord
, vol.24
, Issue.11
, pp. 1684-1688
-
-
Schneider, S.A.1
Paisan-Ruiz, C.2
Garcia-Gorostiaga, I.3
-
89
-
-
79955693896
-
Dystonic tremor caused by mutation of the glucose transporter gene GLUT1
-
Roubergue A, Apartis E, Mesnage V et al. Dystonic tremor caused by mutation of the glucose transporter gene GLUT1. J Inherit Metab Dis 2011 34 2 483-488
-
(2011)
J Inherit Metab Dis
, vol.34
, Issue.2
, pp. 483-488
-
-
Roubergue, A.1
Apartis, E.2
Mesnage, V.3
-
90
-
-
80054888031
-
Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect
-
Weber Y G., Kamm C, Suls A et al. Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect. Neurology 2011 77 10 959-964
-
(2011)
Neurology
, vol.77
, Issue.10
, pp. 959-964
-
-
Weber, Y.G.1
Kamm, C.2
Suls, A.3
-
91
-
-
79953825909
-
Revisiting Mendelian disorders through exome sequencing
-
Ku C S., Naidoo N, Pawitan Y. Revisiting Mendelian disorders through exome sequencing. Hum Genet 2011 129 4 351-370
-
(2011)
Hum Genet
, vol.129
, Issue.4
, pp. 351-370
-
-
Ku, C.S.1
Naidoo, N.2
Pawitan, Y.3
|