-
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;63:2280-2287. (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
-
-
0033960165
-
A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16
-
Bennett LB, Roach ES, Bowcock AM. A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16. Neurology 2000;54:125-130. (Pubitemid 30038749)
-
(2000)
Neurology
, vol.54
, Issue.1
, pp. 125-130
-
-
Bennett, L.B.1
Roach, E.S.2
Bowcock, A.M.3
-
3
-
-
0035653713
-
Paroxysmal kinesigenic dyskinesia and infantile convulsions: Clinical and linkage studies
-
Swoboda KJ, Soong BW, McKenna C, et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology 2001;57:S42-S48. (Pubitemid 33596381)
-
(2001)
Neurology
, vol.57
, Issue.11 SUPPL. 4
-
-
Swoboda, K.J.1
Soong, B.-W.2
McKenna, C.3
Brunt, E.R.P.4
Litt, M.5
Bale Jr., J.F.6
Ashizawa, T.7
Bennett, L.B.8
Bowcock, A.M.9
Roach, E.S.10
Gerson, D.11
Matsuura, T.12
Heydemann, P.T.13
Nespeca, M.P.14
Jankovic, J.15
Leppert, M.16
Ptacek, L.J.17
-
4
-
-
0030766418
-
Familial infantile convulsions and paroxysmal choreoathetosis: A new neurological syndrome linked to the pericentromeric region of human chromosome 16
-
Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet 1997;61:889-898. (Pubitemid 27418464)
-
(1997)
American Journal of Human Genetics
, vol.61
, Issue.4
, pp. 889-898
-
-
Szepetowski, P.1
Rochette, J.2
Berquin, P.3
Piussan, C.4
Lathrop, G.M.5
Monaco, A.P.6
-
5
-
-
33947620465
-
Paroxysmal kinesigenic choreoathetosis (PKC): Confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families
-
DOI 10.1007/s10038-007-0116-7
-
Kikuchi T, Nomura M, Tomita H, et al. Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. J Hum Genet 2007;52:334-341. (Pubitemid 46496290)
-
(2007)
Journal of Human Genetics
, vol.52
, Issue.4
, pp. 334-341
-
-
Kikuchi, T.1
Nomura, M.2
Tomita, H.3
Harada, N.4
Kanai, K.5
Konishi, T.6
Yasuda, A.7
Matsuura, M.8
Kato, N.9
Yoshiura, K.-I.10
Niikawa, N.11
-
6
-
-
33644971837
-
Epidemiological, clinical, and genetic characteristics of early-onset parkinsonism
-
Schrag A, Schott JM. Epidemiological, clinical, and genetic characteristics of early-onset parkinsonism. Lancet Neurol 2006;5:355-363.
-
(2006)
Lancet Neurol
, vol.5
, pp. 355-363
-
-
Schrag, A.1
Schott, J.M.2
-
7
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
DOI 10.1056/NEJMoa075974
-
Weiss LA, Shen Y, Korn JM, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008;358:667-675. (Pubitemid 351240746)
-
(2008)
New England Journal of Medicine
, vol.358
, Issue.7
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
Arking, D.E.4
Miller, D.T.5
Fossdal, R.6
Saemundsen, E.7
Stefansson, H.8
Ferreira, M.A.R.9
Green, T.10
Platt, O.S.11
Ruderfer, D.M.12
Walsh, C.A.13
Altshuler, D.14
Chakravarti, A.15
Tanzi, R.E.16
Stefansson, K.17
Santangelo, S.L.18
Gusella, J.F.19
Sklar, P.20
Wu, B.-L.21
Daly, M.J.22
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