Indexed keywords
ARTICLE;
AUTISM;
BENIGN CHILDHOOD EPILEPSY;
CASE REPORT;
CHILD;
CHROMOSOME 16P;
CHROMOSOME DELETION;
GENE;
HUMAN;
INTELLECTUAL IMPAIRMENT;
MALE;
PAROXYSMAL KINESIGENIC DYSKINESIA;
POLYMERASE CHAIN REACTION;
PRESCHOOL CHILD;
PRIORITY JOURNAL;
PRRT2 GENE;
SINGLE NUCLEOTIDE POLYMORPHISM;
SPEECH DELAY;
AUTISTIC DISORDER;
CHILD;
CHOREA;
CHROMOSOME DELETION;
CHROMOSOME DISORDERS;
CHROMOSOMES, HUMAN, PAIR 16;
EPILEPSY, BENIGN NEONATAL;
GENES, MODIFIER;
HUMANS;
INTELLECTUAL DISABILITY;
MALE;
MEMBRANE PROTEINS;
NERVE TISSUE PROTEINS;
POLYMORPHISM, SINGLE NUCLEOTIDE;
1
79957599929
Paroxysmal dyskinesias
21626559 10.1002/mds.23765
Bhatia KP (2011) Paroxysmal dyskinesias. Movement Disorders 26(6):1157-1165
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, pp. 1157-1165
Bhatia, K.P.1
2
82255186531
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
22101681 10.1038/ng.1008 1:CAS:528:DC%2BC3MXhsV2gt7rN
Chen W-J, Lin Y, Xiong Z-Q et al (2011) Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 43:1252-1255
(2011)
Nat Genet , vol.43
, pp. 1252-1255
Chen, W.-J.1
Lin, Y.2
Xiong, Z.-Q.3
3
83755205987
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
22120146 10.1093/brain/awr289
Wang JL, Cao L, Li XH et al (2011) Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 134:3493-3501
(2011)
Brain , vol.134
, pp. 3493-3501
Wang, J.L.1
Cao, L.2
Li, X.H.3
4
84856144700
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
10.1016/j.celrep.2011.11.001 1:CAS:528:DC%2BC38XjtVSksbs%3D
Lee HY, Huang Y, Bruneau N et al (2012) Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 1:2-12
(2012)
Cell Rep , vol.1
, pp. 2-12
Lee, H.Y.1
Huang, Y.2
Bruneau, N.3
5
34548339637
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
17704777 10.1038/ng2107 1:CAS:528:DC%2BD2sXps12gtbo%3D
Ballif BC, Hornor SA, Jenkins E et al (2007) Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet 39:1071-1073
(2007)
Nat Genet , vol.39
, pp. 1071-1073
Ballif, B.C.1
Hornor, S.A.2
Jenkins, E.3
6
82355181881
Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion
21940615 10.1212/WNL.0b013e31823152d7
Dale RC, Grattan-Smith P, Fung VSC, Peters GB (2011) Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion. Neurology 77:1401-1402
(2011)
Neurology , vol.77
, pp. 1401-1402
Dale, R.C.1
Grattan-Smith, P.2
Fung, V.S.C.3
Peters, G.B.4
7
84862338009
Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: A single-centre study
22515636 10.1111/j.1469-8749.2012.04287.x
Dale RC, Grattan-Smith P, Nicholson M, Peters GB (2012) Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study. Dev Med Child Neurol 54(7):618-623
(2012)
Dev Med Child Neurol. , vol.54
, Issue.7
, pp. 618-623
Dale, R.C.1
Grattan-Smith, P.2
Nicholson, M.3
Peters, G.B.4
8
69449095251
16p11.2-related paroxysmal kinesigenic dyskinesia and dopa-responsive parkinsonism in a child
Lipton J, Rivkin MJ (2009). 16p11.2-related paroxysmal kinesigenic dyskinesia and dopa-responsive parkinsonism in a child. Neurology. 11:73(6):479-480
(2009)
Neurology. 11 , vol.73
, Issue.6
, pp. 479-480
Lipton, J.1
Rivkin, M.J.2
9
78149483955
A direct interaction between causative genes of DYT1 and DYT6 primary dystonia
10.1002/ana.22138
Gavarini S, Cayrol C, Fuchs T et al (2010) A direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann Neurol 68(4):456-461
(2010)
Ann Neurol , vol.68
, Issue.4
, pp. 456-461
Gavarini, S.1
Cayrol, C.2
Fuchs, T.3
10
78149479301
The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)
10.1002/ana.22157
Kaiser FJ, Osmanovic A, Rakovic A et al (2010) The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 68(4):462-468
(2010)
Ann Neurol. , vol.68
, Issue.4
, pp. 462-468
Kaiser, F.J.1
Osmanovic, A.2
Rakovic, A.3
11
78149475753
A molecular link between dystonia 1 and dystonia 6?
20976763 10.1002/ana.22183
Müller U (2010) A molecular link between dystonia 1 and dystonia 6? Ann Neurol 68(4):418-420
(2010)
Ann Neurol , vol.68
, Issue.4
, pp. 418-420
Müller, U.1
12
33644877450
The imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutations
16381868 10.1093/nar/gkj101 1:CAS:528:DC%2BD28XisFyitg%3D%3D
Glaser RL, Ramsay JP, Morison IM (2006) The imprinted gene and parent-of-origin effect database now includes parental origin of de novo mutations. Nucleic Acids Res 34:D29-D31
(2006)
Nucleic Acids Res , vol.34
Glaser, R.L.1
Ramsay, J.P.2
Morison, I.M.3
13
7344254106
A catalogue of imprinted genes and parent-of-origin effects in humans and animals
9735381 10.1093/hmg/7.10.1599 1:CAS:528:DyaK1cXmsFWrurY%3D
Morison IM, Reeve AE (1998) A catalogue of imprinted genes and parent-of-origin effects in humans and animals. Hum Mol Genet 7(10):1599-1609
(1998)
Hum Mol Genet , vol.7
, Issue.10
, pp. 1599-1609
Morison, I.M.1
Reeve, A.E.2
