-
1
-
-
35648978121
-
The story of Rett syndrome: From clinic to neurobiology
-
Chahrour M, Zoghbi HY (2007) The story of Rett syndrome: from clinic to neurobiology. Neuron 56: 422-437.
-
(2007)
Neuron
, vol.56
, pp. 422-437
-
-
Chahrour, M.1
Zoghbi, H.Y.2
-
2
-
-
0014011176
-
On a unusual brain atrophy syndromAe in hyperammonemia in childhood
-
Rett A (1966) [On a unusual brain atrophy syndromAe in hyperammonemia in childhood]. Wien Med Wochenschr 116: 723-726.
-
(1966)
Wien Med Wochenschr
, vol.116
, pp. 723-726
-
-
Rett, A.1
-
3
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, et al. (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
-
4
-
-
0029111944
-
Rett syndrome: Clinical peculiarities and biological mysteries
-
Hagberg B (1995) Rett syndrome: clinical peculiarities and biological mysteries. Acta Paediatr 84: 971-976.
-
(1995)
Acta Paediatr
, vol.84
, pp. 971-976
-
-
Hagberg, B.1
-
5
-
-
0032956073
-
Recent insights into hyperventilation from the study of Rett syndrome
-
Kerr AM, Julu PO (1999) Recent insights into hyperventilation from the study of Rett syndrome. Arch Dis Child 80: 384-387.
-
(1999)
Arch Dis Child
, vol.80
, pp. 384-387
-
-
Kerr, A.M.1
Julu, P.O.2
-
7
-
-
0036917867
-
Rett syndrome and MeCP2: Linking epigenetics and neuronal function
-
Shahbazian MD, Zoghbi HY (2002) Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet 71: 1259-1272.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1259-1272
-
-
Shahbazian, M.D.1
Zoghbi, H.Y.2
-
8
-
-
0035093830
-
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
-
Chen RZ, Akbarian S, Tudor M, 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 JE, 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
-
-
33847266846
-
Reversal of neurological defects in a mouse model of Rett syndrome
-
Guy J, Gan J, Selfridge J, Cobb S, 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
-
11
-
-
84875221023
-
Rett syndrome treatment in mouse models: Searching for effective targets and strategies
-
Ricceri L, De Filippis B, Laviola G (2013) Rett syndrome treatment in mouse models: searching for effective targets and strategies. Neuropharmacology 68: 106-115.
-
(2013)
Neuropharmacology
, vol.68
, pp. 106-115
-
-
Ricceri, L.1
De Filippis, B.2
Laviola, G.3
-
12
-
-
69049103069
-
Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics
-
Brendel C, Klahold E, Gartner J, Huppke P (2009) Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics. Pediatr Res 65: 520-523.
-
(2009)
Pediatr Res
, vol.65
, pp. 520-523
-
-
Brendel, C.1
Klahold, E.2
Gartner, J.3
Huppke, P.4
-
13
-
-
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, Gartner J, et al. (2011) Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model. Journal of molecular medicine 89: 389-398.
-
(2011)
Journal of Molecular Medicine
, vol.89
, pp. 389-398
-
-
Brendel, C.1
Belakhov, V.2
Werner, H.3
Wegener, E.4
Gartner, J.5
-
14
-
-
84870018625
-
Preclinical research in Rett syndrome: Setting the foundation for translational success
-
Katz DM, Berger-Sweeney JE, Eubanks JH, Justice MJ, Neul JL, et al. (2012) Preclinical research in Rett syndrome: setting the foundation for translational success. Disease models & mechanisms 5: 733-745.
-
(2012)
Disease Models & Mechanisms
, vol.5
, pp. 733-745
-
-
Katz, D.M.1
Berger-Sweeney, J.E.2
Eubanks, J.H.3
Justice, M.J.4
Neul, J.L.5
-
15
-
-
77953533210
-
Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development
-
Alvarez-Saavedra M, Carrasco L, Sura-Trueba S, Demarchi Aiello V, Walz K, et al. Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development. Hum Mol Genet 19: 2177-2190.
-
Hum Mol Genet
, vol.19
, pp. 2177-2190
-
-
Alvarez-Saavedra, M.1
Carrasco, L.2
Sura-Trueba, S.3
Demarchi Aiello, V.4
Walz, K.5
-
16
-
-
31444434393
-
The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression
-
Chang Q, Khare G, Dani V, Nelson S, Jaenisch R (2006) The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron 49: 341-348.
-
(2006)
Neuron
, vol.49
, pp. 341-348
-
-
Chang, Q.1
Khare, G.2
Dani, V.3
Nelson, S.4
Jaenisch, R.5
-
17
-
-
35548983001
-
Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice
-
Lawson-Yuen A, Liu D, Han L, Jiang ZI, Tsai GE, et al. (2007) Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. Brain Res Dev Brain Res 1180: 1-6.
-
(2007)
Brain Res Dev 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
-
18
-
-
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, et al. (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
-
19
-
-
34247862140
-
Behavioral and anatomical abnormalities in Mecp2 mutant mice: A model for Rett syndrome
-
Stearns NA, Schaevitz LR, Bowling H, Nag N, Berger UV, et al. (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
-
21
-
-
84856270235
-
Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses
-
Goffin D, Allen M, Zhang L, Amorim M, Wang IT, et al. (2012) Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses. Nat Neurosci 15: 274-283.
-
(2012)
Nat Neurosci
, vol.15
, pp. 274-283
-
-
Goffin, D.1
Allen, M.2
Zhang, L.3
Amorim, M.4
Wang, I.T.5
-
22
-
-
77949485738
-
Early environmental enrichment moderates the behavioral and synaptic phenotype of MeCP2 null mice
-
Lonetti G, Angelucci A, Morando L, Boggio EM, Giustetto M, et al. Early environmental enrichment moderates the behavioral and synaptic phenotype of MeCP2 null mice. Biol Psychiatry 67: 657-665.
-
Biol Psychiatry
, vol.67
, pp. 657-665
-
-
Lonetti, G.1
Angelucci, A.2
Morando, L.3
Boggio, E.M.4
Giustetto, M.5
-
23
-
-
33645080930
-
Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice
-
Pelka GJ, Watson CM, Radziewic T, Hayward M, Lahooti H, et al. (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
-
24
-
-
77949409962
-
Laviola G Early postnatal behavioral changes in the Mecp2-308 truncation mouse model of Rett syndrome
-
De Filippis B, Ricceri L, Laviola G Early postnatal behavioral changes in the Mecp2-308 truncation mouse model of Rett syndrome. Genes Brain Behav 9: 213-223.
-
Genes Brain Behav
, vol.9
, pp. 213-223
-
-
De Filippis, B.1
Ricceri, L.2
-
25
-
-
0036835332
-
The Rett Syndrome Behaviour Questionnaire (RSBQ): Refining the behavioural phenotype of Rett syndrome
-
Mount RH, Charman T, Hastings RP, Reilly S, Cass H (2002) The Rett Syndrome Behaviour Questionnaire (RSBQ): refining the behavioural phenotype of Rett syndrome. J Child Psychol Psychiatry 43: 1099-1110.
-
(2002)
J Child Psychol Psychiatry
, vol.43
, pp. 1099-1110
-
-
Mount, R.H.1
Charman, T.2
Hastings, R.P.3
Reilly, S.4
Cass, H.5
-
26
-
-
33646688438
-
Separate respiratory phenotypes in methyl-CpG-binding protein 2 (Mecp2) deficient mice
-
Bissonnette JM, Knopp SJ (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
-
27
-
-
69249208529
-
Early breathing defects after moderate hypoxia or hypercapnia in a mouse model of Rett syndrome
-
Voituron N, Zanella S, Menuet C, Dutschmann M, 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
-
28
-
-
33947145165
-
Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2-/y knockout mice
-
Stettner GM, Huppke P, Brendel C, Richter DW, Gartner J, et al. (2007) Breathing dysfunctions associated with impaired control of postinspiratory activity in Mecp2-/y knockout mice. The Journal of physiology 579: 863-876.
-
(2007)
The Journal of Physiology
, vol.579
, pp. 863-876
-
-
Stettner, G.M.1
Huppke, P.2
Brendel, C.3
Richter, D.W.4
Gartner, J.5
-
29
-
-
84886239167
-
Breathing challenges in Rett Syndrome: Lessons learned from humans and animal models
-
Ramirez JM, Ward CS, Neul JL (2013) Breathing challenges in Rett Syndrome: lessons learned from humans and animal models. Respir Physiol Neurobiol 189: 280-287.
-
(2013)
Respir Physiol Neurobiol
, vol.189
, pp. 280-287
-
-
Ramirez, J.M.1
Ward, C.S.2
Neul, J.L.3
-
30
-
-
0031008344
-
Preferences for nesting material as environmental enrichment for laboratory mice
-
Van de Weerd HA, Van Loo PL, Van Zutphen LF, Koolhaas JM, Baumans V (1997) Preferences for nesting material as environmental enrichment for laboratory mice. Laboratory animals 31: 133-143.
-
(1997)
Laboratory Animals
, vol.31
, pp. 133-143
-
-
Van De Weerd, H.A.1
Van Loo, P.L.2
Van Zutphen, L.F.3
Koolhaas, J.M.4
Baumans, V.5
-
31
-
-
33947621993
-
Assessing nest building in mice
-
Deacon RM (2006) Assessing nest building in mice. Nature protocols 1: 1117-1119.
-
(2006)
Nature Protocols
, vol.1
, pp. 1117-1119
-
-
Deacon, R.M.1
-
32
-
-
12744261491
-
Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome
-
Moretti P, Bouwknecht JA, Teague R, Paylor R, Zoghbi HY (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
-
33
-
-
44849101156
-
A partial loss of function allele of methyl- CpG-binding protein 2 predicts a human neurodevelopmental syndrome
-
Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, et al. (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
-
34
-
-
84919921123
-
Effect of Sarizotan, a 5-HT and D2- Like Receptor Agonist, on Respiration in Three Mouse Models of Rett Syndrome
-
Abdala AP, Lioy DT, Garg SK, Knopp SJ, Paton JF, et al. (2013) Effect of Sarizotan, a 5-HT and D2- Like Receptor Agonist, on Respiration in Three Mouse Models of Rett Syndrome. American journal of respiratory cell and molecular biology.
-
(2013)
American Journal of Respiratory Cell and Molecular Biology
-
-
Abdala, A.P.1
Lioy, D.T.2
Garg, S.K.3
Knopp, S.J.4
Paton, J.F.5
-
35
-
-
84890318412
-
A selective 5-HT1a receptor agonist improves respiration in a mouse model of Rett syndrome
-
Levitt ES, Hunnicutt BJ, Knopp SJ, Williams JT, Bissonnette JM (2013) A selective 5-HT1a receptor agonist improves respiration in a mouse model of Rett syndrome. Journal of applied physiology 115: 1626-1633.
-
(2013)
Journal of Applied Physiology
, vol.115
, pp. 1626-1633
-
-
Levitt, E.S.1
Hunnicutt, B.J.2
Knopp, S.J.3
Williams, J.T.4
Bissonnette, J.M.5
-
36
-
-
84866403603
-
Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome
-
Robinson L, Guy J, McKay L, Brockett E, Spike RC, et al. (2012) Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome. Brain: a journal of neurology 135: 2699-2710.
-
(2012)
Brain: A Journal of Neurology
, vol.135
, pp. 2699-2710
-
-
Robinson, L.1
Guy, J.2
McKay, L.3
Brockett, E.4
Spike, R.C.5
-
38
-
-
84897087296
-
Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X
-
Bissonnette JM, Schaevitz LR, Knopp SJ, Zhou Z (2014) Respiratory phenotypes are distinctly affected in mice with common Rett syndrome mutations MeCP2 T158A and R168X. Neuroscience 267: 166-176.
-
(2014)
Neuroscience
, vol.267
, pp. 166-176
-
-
Bissonnette, J.M.1
Schaevitz, L.R.2
Knopp, S.J.3
Zhou, Z.4
-
39
-
-
0002834878
-
A barometric method for measuring ventilation in newborn infants
-
Drorbaugh JE, Fenn WO (1955) A barometric method for measuring ventilation in newborn infants. Pediatrics 16: 81-87.
-
(1955)
Pediatrics
, vol.16
, pp. 81-87
-
-
Drorbaugh, J.E.1
Fenn, W.O.2
-
40
-
-
0030801095
-
Modulation of the spinal network for locomotion by substance P in the neonatal rat
-
Barthe JY, Clarac F (1997) Modulation of the spinal network for locomotion by substance P in the neonatal rat. Experimental brain research 115: 485-492.
-
(1997)
Experimental Brain Research
, vol.115
, pp. 485-492
-
-
Barthe, J.Y.1
Clarac, F.2
-
41
-
-
0036318234
-
Long-term deprivation of substance P in PPT-A mutant mice alters the anoxic response of the isolated respiratory network
-
Telgkamp P, Cao YQ, Basbaum AI, Ramirez JM (2002) Long-term deprivation of substance P in PPT-A mutant mice alters the anoxic response of the isolated respiratory network. J Neurophysiol 88: 206-213.
-
(2002)
J Neurophysiol
, vol.88
, pp. 206-213
-
-
Telgkamp, P.1
Cao, Y.Q.2
Basbaum, A.I.3
Ramirez, J.M.4
|