-
1
-
-
0038434116
-
Aberrant trajectory of ascending dopaminergic pathway in mice lacking Nkx2.1
-
DOI 10.1016/S0014-4886(03)00030-X
-
Kawano H, Horie M, Honma S, Kawamura K, Takeuchi K, Kimura S. Aberrant trajectory of ascending dopaminergic pathway in mice lacking Nkx2.1. Exp Neurol. 2003;182:103-112. (Pubitemid 36776253)
-
(2003)
Experimental Neurology
, vol.182
, Issue.1
, pp. 103-112
-
-
Kawano, H.1
Horie, M.2
Honma, S.3
Kawamura, K.4
Takeuchi, K.5
Kimura, S.6
-
2
-
-
0032841612
-
Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: Evidence for a transformation of the pallidum into the striatum
-
Sussel L, Marin O, Kimura S, Rubenstein JL. Loss of Nkx2.1 homeo-box gene function results in a ventral to dorsal molecular respecifica-tion within the basal telencephalon: evidence for a transformation of the pallidum into the striatum. Development. 1999;126:3359-3370. (Pubitemid 29396776)
-
(1999)
Development
, vol.126
, Issue.15
, pp. 3359-3370
-
-
Sussel, L.1
Marin, O.2
Kimura, S.3
Rubenstein, J.L.R.4
-
3
-
-
0242267051
-
Hypothyroidism in Thyroid Transcription Factor 1 Haploinsufficiency Is Caused by Reduced Expression of the Thyroid-Stimulating Hormone Receptor
-
DOI 10.1210/me.2003-0175
-
Moeller LC, Kimura S, Kusakabe T, Liao XH, Van Sande J, Refetoff S. Hypothyroidism in thyroid transcription factor 1 haploinsufficiency is caused by reduced expression of the thyroid-stimulating hormone receptor. Mol Endocrinol. 2003;17:2295-2302. (Pubitemid 37352539)
-
(2003)
Molecular Endocrinology
, vol.17
, Issue.11
, pp. 2295-2302
-
-
Moeller, L.C.1
Kimura, S.2
Kusakabe, T.3
Liao, X.-H.4
Van Sande, J.5
Refetoff, S.6
-
4
-
-
33846919595
-
Thyroid transcription factor in differentiating type II cells: Regulation, isoforms, and target genes
-
DOI 10.1165/rcmb.2006-0207OC
-
Kolla V, Gonzales LW, Gonzales J, et al. Thyroid transcription factor in differentiating type II cells: regulation, isoforms, and target genes. Am J Respir Cell Mol Biol. 2007;36:213-225. (Pubitemid 46233475)
-
(2007)
American Journal of Respiratory Cell and Molecular Biology
, vol.36
, Issue.2
, pp. 213-225
-
-
Kolla, V.1
Gonzales, L.W.2
Gonzales, J.3
Wang, P.4
Angampalli, S.5
Feinstein, S.I.6
Ballard, P.L.7
-
5
-
-
66149122629
-
Five new ttf1/nkx2.1 mutations in brain-lung-thyroid syndrome: Rescue by pax8 synergism in one case
-
Carré A, Szinnai G, Castanet M, et al. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet. 2009;18:2266-2276.
-
(2009)
Hum Mol Genet.
, vol.18
, pp. 2266-2276
-
-
Carré, A.1
Szinnai, G.2
Castanet, M.3
-
6
-
-
0033837870
-
Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure
-
DOI 10.1067/mpd.2000.107111
-
Iwatani N, Mabe H, Devriendt K, Kodama M, Miike T. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr. 2000;137:272-276. (Pubitemid 30659242)
-
(2000)
Journal of Pediatrics
, vol.137
, Issue.2
, pp. 272-276
-
-
Iwatani, N.1
Mabe, H.2
Devriendt, K.3
Kodama, M.4
Miike, T.5
-
7
-
-
33846431982
-
New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contigous genes
-
DOI 10.1002/mds.21135
-
Devos D, Vuillaume I, de Becdelievre A, et al. New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. Mov Disord. 2006;21: 2237-2240. (Pubitemid 46140448)
-
(2006)
Movement Disorders
, vol.21
, Issue.12
, pp. 2237-2240
-
-
Devos, D.1
Vuillaume, I.2
De Becdelievre, A.3
De Martinville, B.4
Dhaenens, C.-M.5
Cuvellier, J.-C.6
Cuisset, J.-M.7
Vallee, L.8
Lemaitre, M.-P.9
Bourteel, H.10
Hachulla, E.11
Wallaert, B.12
Destee, A.13
Defebvre, L.14
Sablonniere, B.15
-
9
-
-
18344393450
-
Mutations in TITF-1 are associated with benign hereditary chorea
-
Breedveld GJ, van Dongen JW, Danesino C, et al. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet. 2002;11:971-979. (Pubitemid 34449784)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.8
, pp. 971-979
-
-
Breedveld, G.J.1
Van Dongen, J.W.F.2
Danesino, C.3
Guala, A.4
Percy, A.K.5
Dure, L.S.6
Harper, P.7
Lazarou, L.P.8
Van Der Linde, H.9
Joosse, M.10
Gruters, A.11
MacDonald, M.E.12
De Vries, B.B.A.13
Arts, W.F.M.14
Oostra, B.A.15
Krude, H.16
Heutink, P.17
-
10
-
-
85009332113
-
Unified huntington's disease rating scale: Reliability and consistency
-
Huntington Study Group.
-
Huntington Study Group. Unified Huntington's Disease Rating Scale: reliability and consistency. Mov Disord. 1996;11:136-142.
-
(1996)
Mov Disord.
, vol.11
, pp. 136-142
-
-
-
11
-
-
3342973111
-
Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1
-
DOI 10.1016/j.jpeds.2004.04.011, PII S0022347604002872
-
Doyle D, Gonzalez I, Thomas B, Scavina M. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2.1. J Pediatr. 2004;145:190-193. (Pubitemid 38993390)
-
(2004)
Journal of Pediatrics
, vol.145
, Issue.2
, pp. 190-193
-
-
Doyle, D.A.1
Gonzalez, I.2
Thomas, B.3
Scavina, M.4
-
12
-
-
22144469443
-
The frontal assessment battery (FAB): Normative values in an Italian population sample
-
DOI 10.1007/s10072-005-0443-4
-
Appollonio I, Leone M, Isella V, et al. The Frontal Assessment Battery (FAB): normative values in an Italian population sample. Neurol Sci. 2005;26:108-116. (Pubitemid 40975511)
-
(2005)
Neurological Sciences
, vol.26
, Issue.2
, pp. 108-116
-
-
Appollonio, I.1
Leone, M.2
Isella, V.3
Piamarta, F.4
Consoli, T.5
Villa, M.L.6
Forapani, E.7
Russo, A.8
Nichelli, P.9
-
13
-
-
20444412260
-
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa
-
DOI 10.1212/01.WNL.0000164000.75046.CC
-
Asmus F, Horber V, Pohlenz J, et al. A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. Neurology. 2005;64:1952-1954. (Pubitemid 40800715)
-
(2005)
Neurology
, vol.64
, Issue.11
, pp. 1952-1954
-
-
Asmus, F.1
Horber, V.2
Pohlenz, J.3
Schwabe, D.4
Zimprich, A.5
Munz, M.6
Schoning, M.7
Gasser, T.8
-
14
-
-
0033940919
-
Benign hereditary chorea of early onset maps to chromosome 14q
-
DOI 10.1086/302725
-
de Vries BB, Arts WF, Breedveld GJ, Hoogeboom JJ, Niermeijer MF, Heutink P. Benign hereditary chorea of early onset maps to chromosome 14q. Am J Hum Genet. 2000;66: 136-142. (Pubitemid 30481476)
-
(2000)
American Journal of Human Genetics
, vol.66
, Issue.1
, pp. 136-142
-
-
De Vries, B.B.A.1
Arts, W.F.M.2
Breedveld, G.J.3
Hoogeboom, J.J.M.4
Niermeijer, M.F.5
Heutink, P.6
-
15
-
-
51849107486
-
A novel nkx2.1 mutation in A family with hypothyroidism and benign hereditary chorea
-
Ferrara AM, De Michele G, Salvatore E, et al. A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. Thyroid. 2008;18:1005-1009.
-
(2008)
Thyroid.
, vol.18
, pp. 1005-1009
-
-
Ferrara, A.M.1
De Michele, G.2
Salvatore, E.3
-
16
-
-
57049181326
-
Psychosis, short stature in benign hereditary chorea: A novel thyroid transcription factor-1 mutation
-
Glik A, Vuillaume I, Devos D, Inzelberg R. Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. Mov Disord. 2008;23:1744-1747.
-
(2008)
Mov Disord.
, vol.23
, pp. 1744-1747
-
-
Glik, A.1
Vuillaume, I.2
Devos, D.3
Inzelberg, R.4
-
17
-
-
77954982866
-
Benign hereditary chorea: Clinical and neuroimaging features in an italian family
-
Salvatore E, Di Maio L, Filla A, et al. Benign hereditary chorea: clinical and neuroimaging features in an Italian family. Mov Dis-ord. 2010;25:1491-1496.
-
(2010)
Mov Dis-ord.
, vol.25
, pp. 1491-1496
-
-
Salvatore, E.1
Di Maio, L.2
Filla, A.3
-
19
-
-
0035838439
-
Hereditary benign chorea: Clinical genetic features of a distinct disease
-
Fernandez M, Raskind W, Matsushita M, Wolff J, Lipe H, Bird T. Hereditary benign chorea: clinical and genetic features of a distinct disease. Neurology. 2001;57:106-110. (Pubitemid 32634858)
-
(2001)
Neurology
, vol.57
, Issue.1
, pp. 106-110
-
-
Fernandez, M.1
Raskind, W.2
Matsushita, M.3
Wolff, J.4
Lipe, H.5
Bird, T.D.6
-
20
-
-
0021243344
-
CHOREE FAMILIALE, NON PROGRESSIVE, LIEE AU SEXE
-
Landrieu P, Benchet ML, Tardieu M, Lapresle J. Choree famil-iale, non progressive, liee au sexe. Rev Neurol. (Paris) 1984; 140:432-433. (Pubitemid 14114977)
-
(1984)
Revue Neurologique
, vol.140
, Issue.6-7
, pp. 432-433
-
-
Landrieu, P.1
Benchet, M.L.2
Tardieu, M.3
Lapresle, J.4
-
21
-
-
50849093561
-
The requirement of nkx2-1 in the temporal specification of cortical interneuron subtypes
-
Butt SJ, Sousa VH, Fuccillo MV, et al. The requirement of Nkx2-1 in the temporal specification of cortical interneuron subtypes. Neuron. 2008;59:722-732.
-
(2008)
Neuron.
, vol.59
, pp. 722-732
-
-
Butt, S.J.1
Sousa, V.H.2
Fuccillo, M.V.3
-
22
-
-
0029941166
-
Benign hereditary chorea improved on stimulant therapy
-
DOI 10.1016/0887-8994(96)00056-2
-
Friederich RL. Benign hereditary chorea improved on stimulant therapy. Pediatr Neurol. 1996;14:326-327. (Pubitemid 26198950)
-
(1996)
Pediatric Neurology
, vol.14
, Issue.4
, pp. 326-327
-
-
Friederich, R.L.1
|