-
1
-
-
79957599929
-
Paroxysmal dyskinesias
-
Bhatia KP. Paroxysmal dyskinesias. Mov Disord 2011; 26: 1157-1165.
-
(2011)
Mov Disord
, vol.26
, pp. 1157-1165
-
-
Bhatia, K.P.1
-
2
-
-
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: 1252-1255.
-
(2011)
Nat Genet
, vol.43
, pp. 1252-1255
-
-
Chen, W.J.1
Lin, Y.2
Xiong, Z.Q.3
-
3
-
-
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; 1: 2-12.
-
(2012)
Cell Rep
, vol.1
, pp. 2-12
-
-
Lee, H.Y.1
Huang, Y.2
Bruneau, N.3
-
4
-
-
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: 152-160.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 152-160
-
-
Heron, S.E.1
Grinton, B.E.2
Kivity, S.3
-
5
-
-
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: 2115-2121.
-
(2012)
Neurology
, vol.79
, pp. 2115-2121
-
-
Gardiner, A.R.1
Bhatia, K.P.2
Stamelou, M.3
-
6
-
-
84871280770
-
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures
-
Scheffer IE, Grinton BE, Heron SE. PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology 2012; 79: 2104-2108.
-
(2012)
Neurology
, vol.79
, pp. 2104-2108
-
-
Scheffer, I.E.1
Grinton, B.E.2
Heron, S.E.3
-
7
-
-
84866367603
-
Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine
-
Dale RC, Gardiner A, Antony J, Houlden H. Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol 2012; 54: 958-960.
-
(2012)
Dev Med Child Neurol
, vol.54
, pp. 958-960
-
-
Dale, R.C.1
Gardiner, A.2
Antony, J.3
Houlden, H.4
-
8
-
-
84871292496
-
PRRT2 mutations cause hemiplegic migraine
-
Riant F, Roze E, Barbance C, et al. PRRT2 mutations cause hemiplegic migraine. Neurology 2012; 79: 2122-2124.
-
(2012)
Neurology
, vol.79
, pp. 2122-2124
-
-
Riant, F.1
Roze, E.2
Barbance, C.3
-
9
-
-
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: 2280-2287.
-
(2004)
Neurology
, vol.63
, pp. 2280-2287
-
-
Bruno, M.K.1
Hallett, M.2
Gwinn-Hardy, K.3
-
10
-
-
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: 3493-3501.
-
(2011)
Brain
, vol.134
, pp. 3493-3501
-
-
Wang, J.L.1
Cao, L.2
Li, X.H.3
-
11
-
-
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: 76-78.
-
(2012)
J Med Genet
, vol.49
, pp. 76-78
-
-
Li, J.1
Zhu, X.2
Wang, X.3
-
12
-
-
84862811273
-
Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot
-
Cao L, Huang XJ, Zheng L, Xiao Q, Wang XJ, Chen SD. Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot. Parkinsonism Relat Disord 2012; 18: 704-706.
-
(2012)
Parkinsonism Relat Disord
, vol.18
, pp. 704-706
-
-
Cao, L.1
Huang, X.J.2
Zheng, L.3
Xiao, Q.4
Wang, X.J.5
Chen, S.D.6
-
13
-
-
84861640003
-
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
-
Ono S, Yoshiura K, Kinoshita A, et al. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. J Hum Genet 2012; 57: 338-341.
-
(2012)
J Hum Genet
, vol.57
, pp. 338-341
-
-
Ono, S.1
Yoshiura, K.2
Kinoshita, A.3
-
14
-
-
84866251560
-
PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population
-
Méneret A, Grabli D, Depienne C, et al. PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology 2012; 79: 170-174.
-
(2012)
Neurology
, vol.79
, pp. 170-174
-
-
Méneret, A.1
Grabli, D.2
Depienne, C.3
-
15
-
-
84872300427
-
Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia
-
Groffen AJ, Klapwijk T, Van Rootselaar AF, Groen JL, Tijssen MA. Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia. J Neurol 2013; 260: 93-99.
-
(2013)
J Neurol
, vol.260
, pp. 93-99
-
-
Groffen, A.J.1
Klapwijk, T.2
Van Rootselaar, A.F.3
Groen, J.L.4
Tijssen, M.A.5
-
16
-
-
80053906761
-
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
-
Najmabadi H, Hu H, Garshasbi M, et al. Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 2011; 478: 57-63.
-
(2011)
Nature
, vol.478
, pp. 57-63
-
-
Najmabadi, H.1
Hu, H.2
Garshasbi, M.3
-
17
-
-
84862338009
-
Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study
-
Dale RC, Grattan-Smith P, Nicholson M, Peters GB. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. Dev Med Child Neurol 2012; 54: 618-623.
-
(2012)
Dev Med Child Neurol
, vol.54
, pp. 618-623
-
-
Dale, R.C.1
Grattan-Smith, P.2
Nicholson, M.3
Peters, G.B.4
-
18
-
-
34249086525
-
Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia
-
Bruno MK, Lee HY, Auburger GW, et al. Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia. Neurology 2007; 68: 1782-1789.
-
(2007)
Neurology
, vol.68
, pp. 1782-1789
-
-
Bruno, M.K.1
Lee, H.Y.2
Auburger, G.W.3
-
19
-
-
0027988344
-
Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation
-
Bressman SB, De Leon D, Kramer PL, et al. Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 1994; 36: 771-777.
-
(1994)
Ann Neurol
, vol.36
, pp. 771-777
-
-
Bressman, S.B.1
De Leon, D.2
Kramer, P.L.3
-
20
-
-
0031786885
-
Paroxysmal kinesigenic choreoathetosis in Singapore and its relationship to epilepsy
-
Tan LCS, Tan AKY, Tjia H. Paroxysmal kinesigenic choreoathetosis in Singapore and its relationship to epilepsy. Clin Neurol Neurosurg 1998; 100: 187-192.
-
(1998)
Clin Neurol Neurosurg
, vol.100
, pp. 187-192
-
-
Tan, L.C.S.1
Tan, A.K.Y.2
Tjia, H.3
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