-
1
-
-
0014011176
-
[On a unusual brain atrophy syndrome in hyperammonemia in childhood]
-
Rett, A. (1966) [On a unusual brain atrophy syndrome in hyperammonemia in childhood]. Wien Med Wochenschr, 116, 723-726.
-
(1966)
Wien Med Wochenschr
, vol.116
, pp. 723-726
-
-
Rett, A.1
-
2
-
-
0021815213
-
Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls
-
Hagberg, B. (1985) Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls. Acta Paediatr. Scand., 74, 405-408.
-
(1985)
Acta Paediatr. Scand.
, vol.74
, pp. 405-408
-
-
Hagberg, B.1
-
3
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
Amir, R.E., Van den Veyver, I.B., Wan, M., Tran, C.Q., Francke, U. and Zoghbi, H.Y. (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat. Genet., 23, 185-188.
-
(1999)
Nat. Genet.
, vol.23
, pp. 185-188
-
-
Amir, R.E.1
Van den Veyver, I.B.2
Wan, M.3
Tran, C.Q.4
Francke, U.5
Zoghbi, H.Y.6
-
4
-
-
37649022627
-
Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes
-
Yasui, D.H., Peddada, S., Bieda, M.C., Vallero, R.O., Hogart, A., Nagarajan, R.P., Thatcher, K.N., Farnham, P.J. and Lasalle, J.M. (2007) Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. Proc. Natl Acad. Sci. USA, 104, 19416-19421.
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 19416-19421
-
-
Yasui, D.H.1
Peddada, S.2
Bieda, M.C.3
Vallero, R.O.4
Hogart, A.5
Nagarajan, R.P.6
Thatcher, K.N.7
Farnham, P.J.8
Lasalle, J.M.9
-
5
-
-
45849105557
-
MeCP2, a key contributor to neurological disease, activates and represses transcription
-
Chahrour, M., Jung, S.Y., Shaw, C., Zhou, X., Wong, S.T.C., Qin, J. and Zoghbi, H.Y. (2008) MeCP2, a key contributor to neurological disease, activates and represses transcription. Science, 320, 1224-1229.
-
(2008)
Science
, vol.320
, pp. 1224-1229
-
-
Chahrour, M.1
Jung, S.Y.2
Shaw, C.3
Zhou, X.4
Wong, S.T.C.5
Qin, J.6
Zoghbi, H.Y.7
-
6
-
-
76849094693
-
Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state
-
Skene, P.J., Illingworth, R.S., Webb, S., Kerr, A.R.W., James, K.D., Turner, D.J., Andrews, R. and Bird, A.P. (2010) Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. Mol. Cell, 37, 457-468.
-
(2010)
Mol. Cell
, vol.37
, pp. 457-468
-
-
Skene, P.J.1
Illingworth, R.S.2
Webb, S.3
Kerr, A.R.W.4
James, K.D.5
Turner, D.J.6
Andrews, R.7
Bird, A.P.8
-
7
-
-
0030071685
-
The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse
-
Tate, P., Skarnes, W. and Bird, A. (1996) The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse. Nat. Genet., 12, 205-208.
-
(1996)
Nat. Genet.
, vol.12
, pp. 205-208
-
-
Tate, P.1
Skarnes, W.2
Bird, A.3
-
8
-
-
0035093830
-
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
-
Chen, R.Z., Akbarian, S., Tudor, M. and Jaenisch, R. (2001) Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat. Genet., 27, 327-331.
-
(2001)
Nat. Genet.
, vol.27
, pp. 327-331
-
-
Chen, R.Z.1
Akbarian, S.2
Tudor, M.3
Jaenisch, R.4
-
9
-
-
0035094767
-
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
-
Guy, J., Hendrich, B., Holmes, M., Martin, J.E. and Bird, A. (2001) A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat. Genet., 27, 322-326.
-
(2001)
Nat. Genet.
, vol.27
, pp. 322-326
-
-
Guy, J.1
Hendrich, B.2
Holmes, M.3
Martin, J.E.4
Bird, A.5
-
10
-
-
0037130455
-
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3
-
Shahbazian, M., Young, J., Yuva-Paylor, L., Spencer, C., Antalffy, B., Noebels, J., Armstrong, D., Paylor, R. and Zoghbi, H. (2002) Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron, 35, 243-254.
-
(2002)
Neuron
, vol.35
, pp. 243-254
-
-
Shahbazian, M.1
Young, J.2
Yuva-Paylor, L.3
Spencer, C.4
Antalffy, B.5
Noebels, J.6
Armstrong, D.7
Paylor, R.8
Zoghbi, H.9
-
11
-
-
8444253290
-
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
-
Collins, A.L., Levenson, J.M., Vilaythong, A.P., Richman, R., Armstrong, D.L., Noebels, J.L., David Sweatt, J. and Zoghbi, H.Y. (2004) Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum. Mol. Genet., 13, 2679-2689.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2679-2689
-
-
Collins, A.L.1
Levenson, J.M.2
Vilaythong, A.P.3
Richman, R.4
Armstrong, D.L.5
Noebels, J.L.6
David Sweatt, J.7
Zoghbi, H.Y.8
-
12
-
-
33645080930
-
Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice
-
Pelka, G.J., Watson, C.M., Radziewic, T., Hayward, M., Lahooti, H., Christodoulou, J. and Tam, P.P.L. (2006) Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice. Brain, 129, 887-898.
-
(2006)
Brain
, vol.129
, pp. 887-898
-
-
Pelka, G.J.1
Watson, C.M.2
Radziewic, T.3
Hayward, M.4
Lahooti, H.5
Christodoulou, J.6
Tam, P.P.L.7
-
13
-
-
35548983001
-
Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice
-
Lawson-Yuen, A., Liu, D., Han, L., Jiang, Z.I., Tsai, G.E., Basu, A.C., Picker, J., Feng, J. and Coyle, J.T. (2007) Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. Brain Res., 1180, 1-6.
-
(2007)
Brain Res
, vol.1180
, pp. 1-6
-
-
Lawson-Yuen, A.1
Liu, D.2
Han, L.3
Jiang, Z.I.4
Tsai, G.E.5
Basu, A.C.6
Picker, J.7
Feng, J.8
Coyle, J.T.9
-
14
-
-
63849239275
-
Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function
-
Tao, J., Hu, K., Chang, Q., Wu, H., Sherman, N.E., Martinowich, K., Klose, R.J., Schanen, C., Jaenisch, R., Wang, W. et al. (2009) Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function. Proc. Natl Acad. Sci. USA, 106, 4882-4887.
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 4882-4887
-
-
Tao, J.1
Hu, K.2
Chang, Q.3
Wu, H.4
Sherman, N.E.5
Martinowich, K.6
Klose, R.J.7
Schanen, C.8
Jaenisch, R.9
Wang, W.10
-
15
-
-
77949470597
-
Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation
-
Jentarra, G.M., Olfers, S.L., Rice, S.G., Srivastava, N., Homanics, G.E., Blue, M., Naidu, S. and Narayanan, V. (2010) Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation. BMC Neurosci., 11, 19.
-
(2010)
BMC Neurosci
, vol.11
, pp. 19
-
-
Jentarra, G.M.1
Olfers, S.L.2
Rice, S.G.3
Srivastava, N.4
Homanics, G.E.5
Blue, M.6
Naidu, S.7
Narayanan, V.8
-
16
-
-
79955748023
-
Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
-
Brendel, C., Belakhov, V., Werner, H., Wegener, E., Gärtner, J., Nudelman, I., Baasov, T. and Huppke, P. (2011) Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model. J. Mol. Med., 89, 389-398.
-
(2011)
J. Mol. Med.
, vol.89
, pp. 389-398
-
-
Brendel, C.1
Belakhov, V.2
Werner, H.3
Wegener, E.4
Gärtner, J.5
Nudelman, I.6
Baasov, T.7
Huppke, P.8
-
17
-
-
80052696272
-
MeCP2 and Rett syndrome: reversibility and potential avenues for therapy
-
Gadalla, K.K.E., Bailey, M.E.S. and Cobb, S.R. (2011) MeCP2 and Rett syndrome: reversibility and potential avenues for therapy. Biochem. J., 439, 1-14.
-
(2011)
Biochem. J.
, vol.439
, pp. 1-14
-
-
Gadalla, K.K.E.1
Bailey, M.E.S.2
Cobb, S.R.3
-
18
-
-
79958025812
-
Complexities of Rett syndrome and MeCP2
-
Samaco, R.C. and Neul, J.L. (2011) Complexities of Rett syndrome and MeCP2. J. Neurosci., 31, 7951-7959.
-
(2011)
J. Neurosci.
, vol.31
, pp. 7951-7959
-
-
Samaco, R.C.1
Neul, J.L.2
-
19
-
-
33847266846
-
Reversal of neurological defects in a mouse model of Rett syndrome
-
Guy, J., Gan, J., Selfridge, J., Cobb, S. and Bird, A. (2007) Reversal of neurological defects in a mouse model of Rett syndrome. Science, 315, 1143-1147.
-
(2007)
Science
, vol.315
, pp. 1143-1147
-
-
Guy, J.1
Gan, J.2
Selfridge, J.3
Cobb, S.4
Bird, A.5
-
20
-
-
34247106769
-
Evidence for abnormal early development in a mouse model of Rett syndrome
-
Santos, M., Silva-Fernandes, A., Oliveira, P., Sousa, N. and Maciel, P. (2007) Evidence for abnormal early development in a mouse model of Rett syndrome. Genes Brain Behav., 6, 277-286.
-
(2007)
Genes Brain Behav
, vol.6
, pp. 277-286
-
-
Santos, M.1
Silva-Fernandes, A.2
Oliveira, P.3
Sousa, N.4
Maciel, P.5
-
21
-
-
43049099355
-
Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice
-
Jugloff, D.G.M., Vandamme, K., Logan, R., Visanji, N.P., Brotchie, J.M. and Eubanks, J.H. (2008) Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice. Hum. Mol. Genet., 17, 1386-1396.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 1386-1396
-
-
Jugloff, D.G.M.1
Vandamme, K.2
Logan, R.3
Visanji, N.P.4
Brotchie, J.M.5
Eubanks, J.H.6
-
22
-
-
33646688438
-
Separate respiratory phenotypes in methyl-CpG-binding protein 2 (Mecp2) deficient mice
-
Bissonnette, J.M. and Knopp, S.J. (2006) Separate respiratory phenotypes in methyl-CpG-binding protein 2 (Mecp2) deficient mice. Pediatr. Res., 59, 513-518.
-
(2006)
Pediatr. Res.
, vol.59
, pp. 513-518
-
-
Bissonnette, J.M.1
Knopp, S.J.2
-
23
-
-
38349036118
-
Effect of inspired oxygen on periodic breathing in methy-CpG-binding protein 2 (Mecp2) deficient mice
-
Bissonnette, J.M. and Knopp, S.J. (2008) Effect of inspired oxygen on periodic breathing in methy-CpG-binding protein 2 (Mecp2) deficient mice. J. Appl. Physiol., 104, 198-204.
-
(2008)
J. Appl. Physiol.
, vol.104
, pp. 198-204
-
-
Bissonnette, J.M.1
Knopp, S.J.2
-
24
-
-
34548550547
-
Autonomic cardiovascular control in methyl-CpG-binding protein 2 (Mecp2) deficient mice
-
Bissonnette, J.M., Knopp, S.J., Maylie, J. and Thong, T. (2007) Autonomic cardiovascular control in methyl-CpG-binding protein 2 (Mecp2) deficient mice. Auton. Neurosci., 136, 82-89.
-
(2007)
Auton. Neurosci.
, vol.136
, pp. 82-89
-
-
Bissonnette, J.M.1
Knopp, S.J.2
Maylie, J.3
Thong, T.4
-
25
-
-
78149259999
-
Correction of respiratory disorders in a mouse model of Rett syndrome
-
Abdala, A.P.L., Dutschmann, M., Bissonnette, J.M. and Paton, J.F.R. (2010) Correction of respiratory disorders in a mouse model of Rett syndrome. Proc. Natl Acad. Sci. USA, 107, 18208-18213.
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 18208-18213
-
-
Abdala, A.P.L.1
Dutschmann, M.2
Bissonnette, J.M.3
Paton, J.F.R.4
-
26
-
-
0030777698
-
Mutant mice and neuroscience: recommendations concerning genetic background Banbury conference on genetic background in mice
-
[1997] Mutant mice and neuroscience: recommendations concerning genetic background. Banbury conference on genetic background in mice. Neuron, 19, 755-759.
-
(1997)
Neuron
, vol.19
, pp. 755-759
-
-
-
27
-
-
0033675163
-
Dissecting the behaviour of transgenic mice: is it the mutation, the genetic background, or the environment?
-
Wolfer, D.P. and Lipp, H.P. (2000) Dissecting the behaviour of transgenic mice: is it the mutation, the genetic background, or the environment? Exp. Physiol., 85, 627-634.
-
(2000)
Exp Physiol
, vol.85
, pp. 627-634
-
-
Wolfer, D.P.1
Lipp, H.P.2
-
28
-
-
84856286525
-
Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome
-
Samaco, R.C., Mandel-Brehm, C., McGraw, C.M., Shaw, C.A., McGill, B.E. and Zoghbi, H.Y. (2012) Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. Nat. Genet., 44, 206-211.
-
(2012)
Nat. Genet.
, vol.44
, pp. 206-211
-
-
Samaco, R.C.1
Mandel-Brehm, C.2
McGraw, C.M.3
Shaw, C.A.4
McGill, B.E.5
Zoghbi, H.Y.6
-
29
-
-
34247862140
-
Behavioral and anatomical abnormalities in Mecp2 mutant mice: a model for Rett syndrome
-
Stearns, N.A., Schaevitz, L.R., Bowling, H., Nag, N., Berger, U.V. and Berger-Sweeney, J. (2007) Behavioral and anatomical abnormalities in Mecp2 mutant mice: a model for Rett syndrome. Neuroscience, 146, 907-921.
-
(2007)
Neuroscience
, vol.146
, pp. 907-921
-
-
Stearns, N.A.1
Schaevitz, L.R.2
Bowling, H.3
Nag, N.4
Berger, U.V.5
Berger-Sweeney, J.6
-
30
-
-
77949485738
-
Early environmental enrichment moderates the behavioral and synaptic phenotype of MeCP2 null mice
-
Lonetti, G., Angelucci, A., Morando, L., Boggio, E.M., Giustetto, M. and Pizzorusso, T. (2010) Early environmental enrichment moderates the behavioral and synaptic phenotype of MeCP2 null mice. Biol. Psychiatry, 67, 657-665.
-
(2010)
Biol. Psychiatry
, vol.67
, pp. 657-665
-
-
Lonetti, G.1
Angelucci, A.2
Morando, L.3
Boggio, E.M.4
Giustetto, M.5
Pizzorusso, T.6
-
31
-
-
0031171578
-
A proposed test battery and constellations of specific behavioral paradigms to investigate the behavioral phenotypes of transgenic and knockout mice
-
Crawley, J.N. and Paylor, R. (1997) A proposed test battery and constellations of specific behavioral paradigms to investigate the behavioral phenotypes of transgenic and knockout mice. Horm. Behav., 31, 197-211.
-
(1997)
Horm. Behav.
, vol.31
, pp. 197-211
-
-
Crawley, J.N.1
Paylor, R.2
-
32
-
-
0035037210
-
Anxiety-related behaviors in the elevated zero-maze are affected by genetic factors and retinal degeneration
-
Cook, M.N., Williams, R.W. and Flaherty, L. (2001) Anxiety-related behaviors in the elevated zero-maze are affected by genetic factors and retinal degeneration. Behav. Neurosci., 115, 468-476.
-
(2001)
Behav. Neurosci.
, vol.115
, pp. 468-476
-
-
Cook, M.N.1
Williams, R.W.2
Flaherty, L.3
-
33
-
-
0032104267
-
Corticotropin releasing factor receptor 1-deficient mice display decreased anxiety, impaired stress response, and aberrant neuroendocrine development
-
Smith, G.W., Aubry, J.M., Dellu, F., Contarino, A., Bilezikjian, L.M., Gold, L.H., Chen, R., Marchuk, Y., Hauser, C., Bentley, C.A. et al. (1998) Corticotropin releasing factor receptor 1-deficient mice display decreased anxiety, impaired stress response, and aberrant neuroendocrine development. Neuron, 20, 1093-1102.
-
(1998)
Neuron
, vol.20
, pp. 1093-1102
-
-
Smith, G.W.1
Aubry, J.M.2
Dellu, F.3
Contarino, A.4
Bilezikjian, L.M.5
Gold, L.H.6
Chen, R.7
Marchuk, Y.8
Hauser, C.9
Bentley, C.A.10
-
34
-
-
67649506191
-
Tests to assess motor phenotype in mice: a user's guide
-
Brooks, S.P. and Dunnett, S.B. (2009) Tests to assess motor phenotype in mice: a user's guide. Nat. Rev. Neurosci., 10, 519-529.
-
(2009)
Nat. Rev. Neurosci.
, vol.10
, pp. 519-529
-
-
Brooks, S.P.1
Dunnett, S.B.2
-
35
-
-
2042473496
-
Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice
-
Frankland, P.W., Wang, Y., Rosner, B., Shimizu, T., Balleine, B.W., Dykens, E.M., Ornitz, E.M. and Silva, A.J. (2004) Sensorimotor gating abnormalities in young males with fragile X syndrome and Fmr1-knockout mice. Mol. Psychiatry, 9, 417-425.
-
(2004)
Mol. Psychiatry
, vol.9
, pp. 417-425
-
-
Frankland, P.W.1
Wang, Y.2
Rosner, B.3
Shimizu, T.4
Balleine, B.W.5
Dykens, E.M.6
Ornitz, E.M.7
Silva, A.J.8
-
36
-
-
66649136789
-
Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment
-
Hessl, D., Berry-Kravis, E., Cordeiro, L., Yuhas, J., Ornitz, E.M., Campbell, A., Chruscinski, E., Hervey, C., Long, J.M. and Hagerman, R.J. (2009) Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment. Am. J. Med. Genet. B Neuropsychiatr. Genet., 150B, 545-553.
-
(2009)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.150 B
, pp. 545-553
-
-
Hessl, D.1
Berry-Kravis, E.2
Cordeiro, L.3
Yuhas, J.4
Ornitz, E.M.5
Campbell, A.6
Chruscinski, E.7
Hervey, C.8
Long, J.M.9
Hagerman, R.J.10
-
37
-
-
33846578187
-
Sensorimotor gating deficits in adults with autism
-
Perry, W., Minassian, A., Lopez, B., Maron, L. and Lincoln, A. (2007) Sensorimotor gating deficits in adults with autism. Biol. Psychiatry, 61, 482-486.
-
(2007)
Biol. Psychiatry
, vol.61
, pp. 482-486
-
-
Perry, W.1
Minassian, A.2
Lopez, B.3
Maron, L.4
Lincoln, A.5
-
38
-
-
0026581360
-
Gating and habituation of the startle reflex in schizophrenic patients
-
Braff, D.L., Grillon, C. and Geyer, M.A. (1992) Gating and habituation of the startle reflex in schizophrenic patients. Arch. Gen. Psychiatry, 49, 206-215.
-
(1992)
Arch. Gen. Psychiatry
, vol.49
, pp. 206-215
-
-
Braff, D.L.1
Grillon, C.2
Geyer, M.A.3
-
39
-
-
53249088295
-
Impaired sensorimotor gating of the acoustic startle response in the prodrome of schizophrenia
-
Quednow, B.B., Frommann, I., Berning, J., Kühn, K.-U., Maier, W. and Wagner, M. (2008) Impaired sensorimotor gating of the acoustic startle response in the prodrome of schizophrenia. Biol. Psychiatry, 64, 766-773.
-
(2008)
Biol. Psychiatry
, vol.64
, pp. 766-773
-
-
Quednow, B.B.1
Frommann, I.2
Berning, J.3
Kühn, K.-U.4
Maier, W.5
Wagner, M.6
-
40
-
-
12744261491
-
Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome
-
Moretti, P., Bouwknecht, J.A., Teague, R., Paylor, R. and Zoghbi, H.Y. (2005) Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome. Hum. Mol. Genet, 14, 205-220.
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 205-220
-
-
Moretti, P.1
Bouwknecht, J.A.2
Teague, R.3
Paylor, R.4
Zoghbi, H.Y.5
-
41
-
-
78149431869
-
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
-
Chao, H.-T., Chen, H., Samaco, R.C., Xue, M., Chahrour, M., Yoo, J., Neul, J.L., Gong, S., Lu, H.-C., Heintz, N. et al. (2010) Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes. Nature, 468, 263-269.
-
(2010)
Nature
, vol.468
, pp. 263-269
-
-
Chao, H.-T.1
Chen, H.2
Samaco, R.C.3
Xue, M.4
Chahrour, M.5
Yoo, J.6
Neul, J.L.7
Gong, S.8
Lu, H.-C.9
Heintz, N.10
-
42
-
-
44849101156
-
A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome
-
Samaco, R.C., Fryer, J.D., Ren, J., Fyffe, S., Chao, H.-T., Sun, Y., Greer, J.J., Zoghbi, H.Y. and Neul, J.L. (2008) A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome. Hum. Mol. Genet, 17, 1718-1727.
-
(2008)
Hum. Mol. Genet
, vol.17
, pp. 1718-1727
-
-
Samaco, R.C.1
Fryer, J.D.2
Ren, J.3
Fyffe, S.4
Chao, H.-T.5
Sun, Y.6
Greer, J.J.7
Zoghbi, H.Y.8
Neul, J.L.9
-
43
-
-
84856885146
-
Social impairments in Rett syndrome: characteristics and relationship with clinical severity
-
Kaufmann, W.E., Tierney, E., Rohde, C.A., Suarez-Pedraza, M.C., Clarke, M.A., Salorio, C.F., Bibat, G., Bukelis, I., Naram, D., Lanham, D.C. et al. (2012) Social impairments in Rett syndrome: characteristics and relationship with clinical severity. J. Intellect. Disabil. Res., 56, 233-247.
-
(2012)
J. Intellect. Disabil. Res.
, vol.56
, pp. 233-247
-
-
Kaufmann, W.E.1
Tierney, E.2
Rohde, C.A.3
Suarez-Pedraza, M.C.4
Clarke, M.A.5
Salorio, C.F.6
Bibat, G.7
Bukelis, I.8
Naram, D.9
Lanham, D.C.10
-
44
-
-
4644373224
-
Sociability and preference for social novelty in five inbred strains: an approach to assess autistic-like behavior in mice
-
Moy, S.S., Nadler, J.J., Perez, A., Barbaro, R.P., Johns, J.M., Magnuson, T.R., Piven, J. and Crawley, J.N. (2004) Sociability and preference for social novelty in five inbred strains: an approach to assess autistic-like behavior in mice. Genes Brain Behav., 3, 287-302.
-
(2004)
Genes Brain Behav
, vol.3
, pp. 287-302
-
-
Moy, S.S.1
Nadler, J.J.2
Perez, A.3
Barbaro, R.P.4
Johns, J.M.5
Magnuson, T.R.6
Piven, J.7
Crawley, J.N.8
-
45
-
-
40349096250
-
Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism
-
Jamain, S., Radyushkin, K., Hammerschmidt, K., Granon, S., Boretius, S., Varoqueaux, F., Ramanantsoa, N., Gallego, J., Ronnenberg, A., Winter, D. et al. (2008) Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism. Proc. Natl Acad. Sci. USA, 105, 1710-1715.
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, pp. 1710-1715
-
-
Jamain, S.1
Radyushkin, K.2
Hammerschmidt, K.3
Granon, S.4
Boretius, S.5
Varoqueaux, F.6
Ramanantsoa, N.7
Gallego, J.8
Ronnenberg, A.9
Winter, D.10
-
46
-
-
79955536349
-
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
-
Peça, J., Feliciano, C., Ting, J.T., Wang, W., Wells, M.F., Venkatraman, T.N., Lascola, C.D., Fu, Z. and Feng, G. (2011) Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. Nature, 472, 437-442.
-
(2011)
Nature
, vol.472
, pp. 437-442
-
-
Peça, J.1
Feliciano, C.2
Ting, J.T.3
Wang, W.4
Wells, M.F.5
Venkatraman, T.N.6
Lascola, C.D.7
Fu, Z.8
Feng, G.9
-
47
-
-
0034540747
-
Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome
-
Lam, C.-W. (2000) Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome. J. Med. Genet., 37, 41e-e41.
-
(2000)
J. Med. Genet.
, vol.37
-
-
Lam, C.-W.1
-
48
-
-
0035889272
-
Preserved speech variants of the Rett syndrome: molecular and clinical analysis
-
Zappella, M., Meloni, I., Longo, I., Hayek, G. and Renieri, A. (2001) Preserved speech variants of the Rett syndrome: molecular and clinical analysis. Am. J. Med. Genet., 104, 14-22.
-
(2001)
Am. J. Med. Genet.
, vol.104
, pp. 14-22
-
-
Zappella, M.1
Meloni, I.2
Longo, I.3
Hayek, G.4
Renieri, A.5
-
49
-
-
0038626842
-
Identification of MeCP2 mutations in a series of females with autistic disorder
-
Carney, R.M., Wolpert, C.M., Ravan, S.A., Shahbazian, M., Ashley-Koch, A., Cuccaro, M.L., Vance, J.M. and Pericak-Vance, M.A. (2003) Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr. Neurol., 28, 205-211.
-
(2003)
Pediatr. Neurol.
, vol.28
, pp. 205-211
-
-
Carney, R.M.1
Wolpert, C.M.2
Ravan, S.A.3
Shahbazian, M.4
Ashley-Koch, A.5
Cuccaro, M.L.6
Vance, J.M.7
Pericak-Vance, M.A.8
-
50
-
-
33750443887
-
Very mild cases of Rett syndrome with skewed X inactivation
-
Huppke, P., Maier, E.M., Warnke, A., Brendel, C., Laccone, F. and Gärtner, J. (2006) Very mild cases of Rett syndrome with skewed X inactivation. J. Med. Genet., 43, 814-816.
-
(2006)
J. Med. Genet.
, vol.43
, pp. 814-816
-
-
Huppke, P.1
Maier, E.M.2
Warnke, A.3
Brendel, C.4
Laccone, F.5
Gärtner, J.6
-
51
-
-
77952291678
-
Cognitive and social functions and growth factors in a mouse model of Rett syndrome
-
Schaevitz, L.R., Moriuchi, J.M., Nag, N., Mellot, T.J. and Berger-Sweeney, J. (2010) Cognitive and social functions and growth factors in a mouse model of Rett syndrome. Physiol. Behav., 100, 255-263.
-
(2010)
Physiol. Behav.
, vol.100
, pp. 255-263
-
-
Schaevitz, L.R.1
Moriuchi, J.M.2
Nag, N.3
Mellot, T.J.4
Berger-Sweeney, J.5
-
52
-
-
0035409467
-
Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder
-
Julu, P.O., Kerr, A.M., Apartopoulos, F., Al-Rawas, S., Engerström, I.W., Engerström, L., Jamal, G.A. and Hansen, S. (2001) Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder. Arch. Dis. Child, 85, 29-37.
-
(2001)
Arch. Dis. Child
, vol.85
, pp. 29-37
-
-
Julu, P.O.1
Kerr, A.M.2
Apartopoulos, F.3
Al-Rawas, S.4
Engerström, I.W.5
Engerström, L.6
Jamal, G.A.7
Hansen, S.8
-
53
-
-
33748899822
-
Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome
-
Weese-Mayer, D.E., Lieske, S.P., Boothby, C.M., Kenny, A.S., Bennett, H.L., Silvestri, J.M. and Ramirez, J.-M. (2006) Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome. Pediatr. Res., 60, 443-449.
-
(2006)
Pediatr. Res.
, vol.60
, pp. 443-449
-
-
Weese-Mayer, D.E.1
Lieske, S.P.2
Boothby, C.M.3
Kenny, A.S.4
Bennett, H.L.5
Silvestri, J.M.6
Ramirez, J.-M.7
-
54
-
-
30144441211
-
Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice
-
Viemari, J.-C., Roux, J.-C., Tryba, A.K., Saywell, V., Burnet, H., Penã, F., Zanella, S., Bévengut, M., Barthelemy-Requin, M., Herzing, L.B.K. et al. (2005) Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice. J. Neurosci., 25, 11521-11530.
-
(2005)
J. Neurosci.
, vol.25
, pp. 11521-11530
-
-
Viemari, J.-C.1
Roux, J.-C.2
Tryba, A.K.3
Saywell, V.4
Burnet, H.5
Penã, F.6
Zanella, S.7
Bévengut, M.8
Barthelemy-Requin, M.9
Herzing, L.B.K.10
-
55
-
-
69249208529
-
Early breathing defects after moderate hypoxia or hypercapnia in a mouse model of Rett syndrome
-
Voituron, N., Zanella, S., Menuet, C., Dutschmann, M. and Hilaire, G. (2009) Early breathing defects after moderate hypoxia or hypercapnia in a mouse model of Rett syndrome. Respir. Physiol. Neurobiol., 168, 109-118.
-
(2009)
Respir. Physiol. Neurobiol.
, vol.168
, pp. 109-118
-
-
Voituron, N.1
Zanella, S.2
Menuet, C.3
Dutschmann, M.4
Hilaire, G.5
-
56
-
-
79960416688
-
MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan
-
Ward, C.S., Arvide, E.M., Huang, T.-W., Yoo, J., Noebels, J.L. and Neul, J.L. (2011) MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan. J. Neurosci., 31, 10359-10370.
-
(2011)
J. Neurosci.
, vol.31
, pp. 10359-10370
-
-
Ward, C.S.1
Arvide, E.M.2
Huang, T.-W.3
Yoo, J.4
Noebels, J.L.5
Neul, J.L.6
-
57
-
-
0036557829
-
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia
-
Kleefstra, T., Yntema, H.G., Oudakker, A.R., Romein, T., Sistermans, E., Nillessen, W., van Bokhoven, H., de Vries, B.B.A. and Hamel, B.C.J. (2002) De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia. Clin. Genet., 61, 359-362.
-
(2002)
Clin. Genet.
, vol.61
, pp. 359-362
-
-
Kleefstra, T.1
Yntema, H.G.2
Oudakker, A.R.3
Romein, T.4
Sistermans, E.5
Nillessen, W.6
van Bokhoven, H.7
de Vries, B.B.A.8
Hamel, B.C.J.9
-
58
-
-
58049116929
-
A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype
-
Adegbola, A.A., Gonzales, M.L., Chess, A., LaSalle, J.M. and Cox, G.F. (2009) A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. Hum. Genet., 124, 615-623.
-
(2009)
Hum. Genet.
, vol.124
, pp. 615-623
-
-
Adegbola, A.A.1
Gonzales, M.L.2
Chess, A.3
LaSalle, J.M.4
Cox, G.F.5
-
59
-
-
52049126415
-
Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress
-
Fyffe, S.L., Neul, J.L., Samaco, R.C., Chao, H.-T., Ben-Shachar, S., Moretti, P., McGill, B.E., Goulding, E.H., Sullivan, E., Tecott, L.H. et al. (2008) Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress. Neuron, 59, 947-958.
-
(2008)
Neuron
, vol.59
, pp. 947-958
-
-
Fyffe, S.L.1
Neul, J.L.2
Samaco, R.C.3
Chao, H.-T.4
Ben-Shachar, S.5
Moretti, P.6
McGill, B.E.7
Goulding, E.H.8
Sullivan, E.9
Tecott, L.H.10
-
60
-
-
1542344372
-
X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome
-
Young, J.I. and Zoghbi, H.Y. (2004) X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome. Am. J. Hum. Genet., 74, 511-520.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 511-520
-
-
Young, J.I.1
Zoghbi, H.Y.2
-
61
-
-
79960075356
-
Adult neural function requires MeCP2
-
McGraw, C.M., Samaco, R.C. and Zoghbi, H.Y. (2011) Adult neural function requires MeCP2. Science, 333, 186.
-
(2011)
Science
, vol.333
, pp. 186
-
-
McGraw, C.M.1
Samaco, R.C.2
Zoghbi, H.Y.3
-
62
-
-
43549123303
-
Role of endogenous somatostatin in regulating GH output under basal conditions and in response to metabolic extremes
-
Luque, R.M., Park, S. and Kineman, R.D. (2008) Role of endogenous somatostatin in regulating GH output under basal conditions and in response to metabolic extremes. Mol. Cell. Endocrinol., 286, 155-168.
-
(2008)
Mol. Cell. Endocrinol.
, vol.286
, pp. 155-168
-
-
Luque, R.M.1
Park, S.2
Kineman, R.D.3
-
63
-
-
33750415286
-
Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers
-
Knudsen, G.P.S., Neilson, T.C.S., Pedersen, J., Kerr, A., Schwartz, M., Hulten, M., Bailey, M.E.S. and Orstavik, K.H. (2006) Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers. Eur. J. Hum. Genet., 14, 1189-1194.
-
(2006)
Eur. J. Hum. Genet.
, vol.14
, pp. 1189-1194
-
-
Knudsen, G.P.S.1
Neilson, T.C.S.2
Pedersen, J.3
Kerr, A.4
Schwartz, M.5
Hulten, M.6
Bailey, M.E.S.7
Orstavik, K.H.8
-
64
-
-
33847267187
-
Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation
-
Archer, H., Evans, J., Leonard, H., Colvin, L., Ravine, D., Christodoulou, J., Williamson, S., Charman, T., Bailey, M.E.S., Sampson, J. et al. (2007) Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. J. Med. Genet., 44, 148-152.
-
(2007)
J. Med. Genet.
, vol.44
, pp. 148-152
-
-
Archer, H.1
Evans, J.2
Leonard, H.3
Colvin, L.4
Ravine, D.5
Christodoulou, J.6
Williamson, S.7
Charman, T.8
Bailey, M.E.S.9
Sampson, J.10
-
65
-
-
0041819548
-
Study of MECP2 gene in Rett syndrome variants and autistic girls
-
Zappella, M., Meloni, I., Longo, I., Canitano, R., Hayek, G., Rosaia, L., Mari, F. and Renieri, A. (2003) Study of MECP2 gene in Rett syndrome variants and autistic girls. Am. J. Med. Genet. B Neuropsychiatr. Genet., 119B, 102-107.
-
(2003)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.119 B
, pp. 102-107
-
-
Zappella, M.1
Meloni, I.2
Longo, I.3
Canitano, R.4
Hayek, G.5
Rosaia, L.6
Mari, F.7
Renieri, A.8
-
66
-
-
79952314377
-
Sociability and motor functions in Shank1 mutant mice
-
Silverman, J.L., Turner, S.M., Barkan, C.L., Tolu, S.S., Saxena, R., Hung, A.Y., Sheng, M. and Crawley, J.N. (2011) Sociability and motor functions in Shank1 mutant mice. Brain Res., 1380, 120-137.
-
(2011)
Brain Res
, vol.1380
, pp. 120-137
-
-
Silverman, J.L.1
Turner, S.M.2
Barkan, C.L.3
Tolu, S.S.4
Saxena, R.5
Hung, A.Y.6
Sheng, M.7
Crawley, J.N.8
-
67
-
-
77951715528
-
Linking MECP2 and pain sensitivity: the example of Rett syndrome
-
Downs, J., Géranton, S.M., Bebbington, A., Jacoby, P., Bahi-Buisson, N., Ravine, D. and Leonard, H. (2010) Linking MECP2 and pain sensitivity: the example of Rett syndrome. Am. J. Med. Genet. A, 152A, 1197-1205.
-
(2010)
Am. J. Med. Genet. A
, vol.152 A
, pp. 1197-1205
-
-
Downs, J.1
Géranton, S.M.2
Bebbington, A.3
Jacoby, P.4
Bahi-Buisson, N.5
Ravine, D.6
Leonard, H.7
-
68
-
-
29144440149
-
Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome
-
Asaka, Y., Jugloff, D.G.M., Zhang, L., Eubanks, J.H. and Fitzsimonds, R.M. (2006) Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome. Neurobiol. Dis., 21, 217-227.
-
(2006)
Neurobiol. Dis.
, vol.21
, pp. 217-227
-
-
Asaka, Y.1
Jugloff, D.G.M.2
Zhang, L.3
Eubanks, J.H.4
Fitzsimonds, R.M.5
-
69
-
-
79953741776
-
Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2 insights into Rett syndrome
-
Lioy, D.T., Wu, W.W. and Bissonnette, J.M. (2011) Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: insights into Rett syndrome. Auton. Neurosci., 161, 55-62.
-
(2011)
Auton. Neurosci.
, vol.161
, pp. 55-62
-
-
Lioy, D.T.1
Wu, W.W.2
Bissonnette, J.M.3
-
70
-
-
60549115413
-
Partial reversal of Rett syndrome-like symptoms in MeCP2 mutant mice
-
Tropea, D., Giacometti, E., Wilson, N.R., Beard, C., McCurry, C., Fu, D.D., Flannery, R., Jaenisch, R. and Sur, M. (2009) Partial reversal of Rett syndrome-like symptoms in MeCP2 mutant mice. Proc. Natl Acad. Sci. USA, 106, 2029-2034.
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 2029-2034
-
-
Tropea, D.1
Giacometti, E.2
Wilson, N.R.3
Beard, C.4
McCurry, C.5
Fu, D.D.6
Flannery, R.7
Jaenisch, R.8
Sur, M.9
-
71
-
-
33845287975
-
Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome
-
McGill, B.E., Bundle, S.F., Yaylaoglu, M.B., Carson, J.P., Thaller, C. and Zoghbi, H.Y. (2006) Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc. Natl Acad. Sci. USA, 103, 18267-18272.
-
(2006)
Proc. Natl Acad. Sci. USA
, vol.103
, pp. 18267-18272
-
-
McGill, B.E.1
Bundle, S.F.2
Yaylaoglu, M.B.3
Carson, J.P.4
Thaller, C.5
Zoghbi, H.Y.6
-
72
-
-
76049091733
-
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities
-
Samaco, R.C., Mandel-Brehm, C., Chao, H.-T., Ward, C.S., Fyffe-Maricich, S.L., Ren, J., Hyland, K., Thaller, C., Maricich, S.M., Humphreys, P. et al. (2009) Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities. Proc. Natl Acad. Sci. USA, 106, 21966-21971.
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 21966-21971
-
-
Samaco, R.C.1
Mandel-Brehm, C.2
Chao, H.-T.3
Ward, C.S.4
Fyffe-Maricich, S.L.5
Ren, J.6
Hyland, K.7
Thaller, C.8
Maricich, S.M.9
Humphreys, P.10
-
73
-
-
30644479042
-
Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome
-
Moretti, P., Levenson, J.M., Battaglia, F., Atkinson, R., Teague, R., Antalffy, B., Armstrong, D., Arancio, O., Sweatt, J.D. and Zoghbi, H.Y. (2006) Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J. Neurosci., 26, 319-327.
-
(2006)
J. Neurosci.
, vol.26
, pp. 319-327
-
-
Moretti, P.1
Levenson, J.M.2
Battaglia, F.3
Atkinson, R.4
Teague, R.5
Antalffy, B.6
Armstrong, D.7
Arancio, O.8
Sweatt, J.D.9
Zoghbi, H.Y.10
-
74
-
-
8444229317
-
Impaired passive avoidance learning in mice lacking central neuronal nicotinic acetylcholine receptors
-
Marubio, L.M. and Paylor, R. (2004) Impaired passive avoidance learning in mice lacking central neuronal nicotinic acetylcholine receptors. Neuroscience, 129, 575-582.
-
(2004)
Neuroscience
, vol.129
, pp. 575-582
-
-
Marubio, L.M.1
Paylor, R.2
|