-
1
-
-
19944402859
-
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: New diagnostic criteria
-
Bruno MK, Hallett M, Gwinn-Hardy K, et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004; 63: 2280-7. (Pubitemid 40024337)
-
(2004)
Neurology
, vol.63
, Issue.12
, pp. 2280-2287
-
-
Bruno, M.K.1
Hallett, M.2
Gwinn-Hardy, K.3
Sorensen, B.4
Considine, E.5
Tucker, S.6
Lynch, D.R.7
Mathews, K.D.8
Swoboda, K.J.9
Harris, J.10
Soong, B.-W.11
Ashizawa, T.12
Jankovic, J.13
Renner, D.14
Fu, Y.-H.15
Ptacek, L.J.16
-
2
-
-
34249086525
-
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia
-
DOI 10.1212/01.wnl.0000262029.91552.e0, PII 0000611420070522000005
-
Bruno MK, Lee HY, Auburger GW, et al. Genotypephenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology 2007; 68: 1782-9. (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
-
3
-
-
82255186531
-
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
-
Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 2011; 43: 1252-5.
-
(2011)
Nat Genet
, vol.43
, pp. 1252-1255
-
-
Chen, W.J.1
Lin, Y.2
Xiong, Z.Q.3
-
4
-
-
84866437494
-
PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine
-
Gardiner AR, Bhatia KP, Stamelou M, et al. PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 2012; 79: 2115-21.
-
(2012)
Neurology
, vol.79
, pp. 2115-2121
-
-
Gardiner, A.R.1
Bhatia, K.P.2
Stamelou, M.3
-
5
-
-
84855827661
-
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
-
Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 2012; 90: 152-60.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 152-160
-
-
Heron, S.E.1
Grinton, B.E.2
Kivity, S.3
-
6
-
-
84856144700
-
Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
-
Lee HY, Huang Y, Bruneau N, et al. Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2012; 26: 2-12.
-
(2012)
Cell Rep
, vol.26
, pp. 2-12
-
-
Lee, H.Y.1
Huang, Y.2
Bruneau, N.3
-
7
-
-
84862776732
-
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
-
Li J, Zhu X,Wang X, et al. Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. J Med Genet 2012; 49: 76-8.
-
(2012)
J Med Genet
, vol.49
, pp. 76-78
-
-
Li, J.1
Zhu, X.2
Wang, X.3
-
8
-
-
84862912899
-
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression
-
Liu Q, Qi Z, Wan XH, et al. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. J Med Genet 2012; 49: 79-82.
-
(2012)
J Med Genet
, vol.49
, pp. 79-82
-
-
Liu, Q.1
Qi, Z.2
Wan, X.H.3
-
9
-
-
84866287779
-
PRRT2 mutations are the major cause of benign familial infantile seizures (BFIS)
-
Schubert J, Paravidino R, Becker F, et al. PRRT2 mutations are the major cause of benign familial infantile seizures (BFIS). Hum Mutat 2012; 33: 1439-43.
-
(2012)
Hum Mutat
, vol.33
, pp. 1439-1443
-
-
Schubert, J.1
Paravidino, R.2
Becker, F.3
-
10
-
-
0033775093
-
A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16
-
Valente EM, Spacey SD,Wali GM, et al. A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16. Brain 2000; 123: 2040-5.
-
(2000)
Brain
, vol.123
, pp. 2040-2045
-
-
Valente, E.M.1
Spacey, S.D.2
Wali, G.M.3
-
11
-
-
83755205987
-
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
-
Wang JL, Cao L, Li XH, et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011; 134: 3493-501.
-
(2011)
Brain
, vol.134
, pp. 3493-3501
-
-
Wang, J.L.1
Cao, L.2
Li, X.H.3
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