-
2
-
-
80052696272
-
MeCP2 and Rett syndrome: reversibility and potential avenues for therapy
-
Gadalla, K.K., M.E. Bailey & S.R. Cobb 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.1
Bailey, M.E.2
Cobb, S.R.3
-
3
-
-
80051558111
-
Rett syndrome: exploring the autism link
-
Percy, A.K. 2011. Rett syndrome: exploring the autism link. Arch. Neurol. 68: 985-989.
-
(2011)
Arch. Neurol.
, vol.68
, pp. 985-989
-
-
Percy, A.K.1
-
4
-
-
84855491541
-
Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: focus on Mecp2 and Met
-
Shepherd, G.M. & D.M. Katz 2011. Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: focus on Mecp2 and Met. Curr. Opin. Neurobiol. 21: 827-833.
-
(2011)
Curr. Opin. Neurobiol.
, vol.21
, pp. 827-833
-
-
Shepherd, G.M.1
Katz, D.M.2
-
5
-
-
79958025812
-
Complexities of Rett syndrome and MeCP2
-
Samaco, R.C. & J.L. Neul 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
-
6
-
-
82355186004
-
Cognitive deficits in Rett syndrome: what we know and what we need to know to treat them
-
Berger-Sweeney, J. 2011. Cognitive deficits in Rett syndrome: what we know and what we need to know to treat them. Neurobiol. Learn Mem. 96: 637-646.
-
(2011)
Neurobiol. Learn Mem.
, vol.96
, pp. 637-646
-
-
Berger-Sweeney, J.1
-
7
-
-
77953545864
-
The role of MeCP2 in brain development and neurodevelopmental disorders
-
Gonzales, M.L. & J.M. LaSalle 2010. The role of MeCP2 in brain development and neurodevelopmental disorders. Curr. Psychiatry Rep. 12: 127-134.
-
(2010)
Curr. Psychiatry Rep.
, vol.12
, pp. 127-134
-
-
Gonzales, M.L.1
LaSalle, J.M.2
-
8
-
-
79952026678
-
Synaptic determinants of Rett syndrome
-
Boggio, E.M., G. Lonetti, T. Pizzorusso & M. Giustetto 2010. Synaptic determinants of Rett syndrome. Front, Synaptic Neurosci. 2: 28.
-
(2010)
Front, Synaptic Neurosci.
, vol.2
, pp. 28
-
-
Boggio, E.M.1
Lonetti, G.2
Pizzorusso, T.3
Giustetto, M.4
-
9
-
-
70449725209
-
Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies
-
Urdinguio, R.G., J.V. Sanchez-Mut & M. Esteller 2009. Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies. Lancet Neurol. 8: 1056-1072.
-
(2009)
Lancet Neurol.
, vol.8
, pp. 1056-1072
-
-
Urdinguio, R.G.1
Sanchez-Mut, J.V.2
Esteller, M.3
-
10
-
-
58149340280
-
Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches
-
Ricceri, L., B. De Filippis & G. Laviola 2008. Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches. Behav. Pharmacol. 19: 501-517.
-
(2008)
Behav. Pharmacol.
, vol.19
, pp. 501-517
-
-
Ricceri, L.1
De Filippis, B.2
Laviola, G.3
-
11
-
-
35648978121
-
The story of Rett syndrome: from clinic to neurobiology
-
Chahrour, M. & H.Y. Zoghbi 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
-
12
-
-
42449108258
-
Rett syndrome: recent research progress
-
Percy, A.K. 2008. Rett syndrome: recent research progress. J. Child. Neurol. 23: 543-549.
-
(2008)
J. Child. Neurol.
, vol.23
, pp. 543-549
-
-
Percy, A.K.1
-
13
-
-
0014011176
-
Uber ein eigartiges hirnatrophisches Syndrom bei Hyperammoniamie in Kindesalter.
-
Rett, A. 1966. Uber ein eigartiges hirnatrophisches Syndrom bei Hyperammoniamie in Kindesalter. Wien Med. Wochenschr. 116: 723-738.
-
(1966)
Wien Med. Wochenschr.
, vol.116
, pp. 723-738
-
-
Rett, A.1
-
14
-
-
0032830639
-
Rett syndrome is caused by mutation in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
Amir, R.E., I.B. Van den Veyver, M. Wan, et al 1999. Rett syndrome is caused by mutation 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
-
15
-
-
78650903501
-
Rett syndrome: revised diagnostic criteria and nomenclature
-
Neul, J.L., W.E. Kaufmann, D.G. Glaze, et al 2010. Rett syndrome: revised diagnostic criteria and nomenclature. Ann. Neurol. 68: 944-950.
-
(2010)
Ann. Neurol.
, vol.68
, pp. 944-950
-
-
Neul, J.L.1
Kaufmann, W.E.2
Glaze, D.G.3
-
16
-
-
0036270792
-
Clinical manifestations and stages of Rett syndrome
-
Hagberg, B. 2002. Clinical manifestations and stages of Rett syndrome. Ment. Retard. Dev. Disabil. Res. Rev. 8: 61-65.
-
(2002)
Ment. Retard. Dev. Disabil. Res. Rev.
, vol.8
, pp. 61-65
-
-
Hagberg, B.1
-
17
-
-
78149431869
-
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
-
Chao, H.T., H. Chen, R.C. Samaco, 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
-
18
-
-
60749113749
-
Rett syndrome: what do we know for sure?
-
Zoghbi, H.Y. 2009. Rett syndrome: what do we know for sure? Nat. Neurosci. 12: 239-240.
-
(2009)
Nat. Neurosci.
, vol.12
, pp. 239-240
-
-
Zoghbi, H.Y.1
-
19
-
-
0041402741
-
Mutations and polymorphisms in the human methyl CpG-binding protein MECP2
-
Miltenberger-Miltenyi, G. & F. Laccone 2003. Mutations and polymorphisms in the human methyl CpG-binding protein MECP2. Hum. Mutat. 22: 107-115.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 107-115
-
-
Miltenberger-Miltenyi, G.1
Laccone, F.2
-
20
-
-
0037405913
-
RettBASE: the IRSA MECP2 variation database-a new mutation database in evolution
-
Christodoulou, J., A. Grimm, T. Maher, et al 2003. RettBASE: the IRSA MECP2 variation database-a new mutation database in evolution. Hum. Mutat. 21: 466-472.
-
(2003)
Hum. Mutat.
, vol.21
, pp. 466-472
-
-
Christodoulou, J.1
Grimm, A.2
Maher, T.3
-
21
-
-
0030188404
-
Isolation, physical mapping and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2
-
D'Esposito, M., N.A. Quaderi, A. Ciccodicola, et al 1996. Isolation, physical mapping and northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2. Mamm. Gen. 7: 533-535.
-
(1996)
Mamm. Gen.
, vol.7
, pp. 533-535
-
-
D'Esposito, M.1
Quaderi, N.A.2
Ciccodicola, A.3
-
22
-
-
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.L., J. Evans, H. Leonard, 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.L.1
Evans, J.2
Leonard, H.3
-
23
-
-
42249095974
-
Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome
-
Neul, J.L., P. Fang, J. Barrish, et al 2008. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology 70: 1313-1321.
-
(2008)
Neurology
, vol.70
, pp. 1313-1321
-
-
Neul, J.L.1
Fang, P.2
Barrish, J.3
-
24
-
-
17444440488
-
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
-
Amir, R.E., I.B. Van den Veyver, R. Schultz, et al 2000. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann. Neurol. 47: 670-679.
-
(2000)
Ann. Neurol.
, vol.47
, pp. 670-679
-
-
Amir, R.E.1
Van den Veyver, I.B.2
Schultz, R.3
-
25
-
-
18144443930
-
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location
-
Cheadle, J.P., H. Gill, N. Fleming, et al 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum. Mol. Genet. 9: 1119-1129.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1119-1129
-
-
Cheadle, J.P.1
Gill, H.2
Fleming, N.3
-
26
-
-
0034701904
-
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients
-
Huppke, P., F. Laccone, N. Kramer, et al 2000. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum. Mol. Genet. 9: 1369-1375.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1369-1375
-
-
Huppke, P.1
Laccone, F.2
Kramer, N.3
-
27
-
-
0035849529
-
MeCP2 mutations in children with and without the phenotype of Rett syndrome
-
Hoffbuhr, K., J.M. Devaney, B. LaFleur, et al 2001. MeCP2 mutations in children with and without the phenotype of Rett syndrome. Neurology 56: 1486-1495.
-
(2001)
Neurology
, vol.56
, pp. 1486-1495
-
-
Hoffbuhr, K.1
Devaney, J.M.2
LaFleur, B.3
-
28
-
-
0035196349
-
Rett syndrome in Spain: mutation analysis and clinical correlations
-
Monros, E., J. Armstrong, E. Aibar, et al 2001. Rett syndrome in Spain: mutation analysis and clinical correlations. Brain Dev. 23: S251-S253.
-
(2001)
Brain Dev.
, vol.23
-
-
Monros, E.1
Armstrong, J.2
Aibar, E.3
-
29
-
-
0037824702
-
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype
-
Weaving, L.S., S.L. Williamson, B. Bennetts, et al 2003. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. Am. J. Med. Genet. 118A: 103-114.
-
(2003)
Am. J. Med. Genet.
, vol.118 A
, pp. 103-114
-
-
Weaving, L.S.1
Williamson, S.L.2
Bennetts, B.3
-
30
-
-
40549110266
-
Investigating genotype-phenotype relationships in Rett syndrome using an international data set
-
Bebbington, A., A. Anderson, D. Ravine, et al 2008. Investigating genotype-phenotype relationships in Rett syndrome using an international data set. Neurology 70: 868-875.
-
(2008)
Neurology
, vol.70
, pp. 868-875
-
-
Bebbington, A.1
Anderson, A.2
Ravine, D.3
-
31
-
-
78650306582
-
Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes
-
Temudo, T., M. Santos, E. Ramos, et al 2011. Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes. Brain Dev. 33: 69-76.
-
(2011)
Brain Dev.
, vol.33
, pp. 69-76
-
-
Temudo, T.1
Santos, M.2
Ramos, E.3
-
32
-
-
77955755675
-
Level of purposeful hand function as a marker of clinical severity in Rett syndrome
-
Downs, J., A. Bebbington, P. Jacoby, et al 2010. Level of purposeful hand function as a marker of clinical severity in Rett syndrome. Dev. Med. Child Neurol. 52: 817-823.
-
(2010)
Dev. Med. Child Neurol.
, vol.52
, pp. 817-823
-
-
Downs, J.1
Bebbington, A.2
Jacoby, P.3
-
33
-
-
60849123132
-
Brain metabolism in Rett syndrome: age, clinical, and genotype correlations
-
Horská, A., L. Farage, G. Bibat, et al 2009. Brain metabolism in Rett syndrome: age, clinical, and genotype correlations. Ann. Neurol. 65: 90-97.
-
(2009)
Ann. Neurol.
, vol.65
, pp. 90-97
-
-
Horská, A.1
Farage, L.2
Bibat, G.3
-
34
-
-
0042278588
-
Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
-
Leonard, H., L. Colvin, J. Christodoulou, et al 2003. Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations? J. Med. Genet. 40: e52.
-
(2003)
J. Med. Genet.
, vol.40
-
-
Leonard, H.1
Colvin, L.2
Christodoulou, J.3
-
35
-
-
0033365401
-
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
-
Wan, M., S.S. Lee, X. Zhang, et al 1999. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am. J. Hum. Genet. 65: 1520-1529.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1520-1529
-
-
Wan, M.1
Lee, S.S.2
Zhang, X.3
-
36
-
-
33746861632
-
Early progressive encephalopathy in boys and MECP2 mutations
-
Kankirawatana, P., H. Leonard, C. Ellaway, et al 2006. Early progressive encephalopathy in boys and MECP2 mutations. Neurology 67: 164-166.
-
(2006)
Neurology
, vol.67
, pp. 164-166
-
-
Kankirawatana, P.1
Leonard, H.2
Ellaway, C.3
-
37
-
-
0038626842
-
Identification of MeCP2 mutations in a series of females with autistic disorder
-
Carney, R.M., C.M. Wolpert, S.A. Ravan, et al 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
-
38
-
-
0035054930
-
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein
-
Watson, P., G. Black, S. Ramsden, et al 2001. Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J. Med. Genet. 38: 224-228.
-
(2001)
J. Med. Genet.
, vol.38
, pp. 224-228
-
-
Watson, P.1
Black, G.2
Ramsden, S.3
-
39
-
-
54949090865
-
Key clinical features to identify girls with CDKL5 mutations
-
Bahi-Buisson, N., J. Nectoux, H. Rosas-Vargas, et al 2008. Key clinical features to identify girls with CDKL5 mutations. Brain 131: 2647-2661.
-
(2008)
Brain
, vol.131
, pp. 2647-2661
-
-
Bahi-Buisson, N.1
Nectoux, J.2
Rosas-Vargas, H.3
-
40
-
-
46149122036
-
FOXG1 is responsible for the congenital variant of Rett syndrome
-
Ariani, F., J. Hayek, D. Rondinella, et al 2008. FOXG1 is responsible for the congenital variant of Rett syndrome. Am. J. Hum. Genet. 83: 89-93.
-
(2008)
Am. J. Hum. Genet.
, vol.83
, pp. 89-93
-
-
Ariani, F.1
Hayek, J.2
Rondinella, D.3
-
41
-
-
33847266846
-
Reversal of neurological defects in a mouse model of Rett syndrome
-
Guy, J., J. Gan, J. Selfridge, et al 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
-
42
-
-
73449123034
-
On the tracks of DNA methylation: an interview to Adrian Bird
-
Gitschier, J. 2009. On the tracks of DNA methylation: an interview to Adrian Bird. PLoS Genet. 5: e1000667.
-
(2009)
PLoS Genet.
, vol.5
-
-
Gitschier, J.1
-
43
-
-
34247490186
-
Mitochondria, oxidative stress and cell death
-
Ott, M., V. Gogvadze, S. Orrenius, et al 2007. Mitochondria, oxidative stress and cell death. Apoptosis 12: 913-922.
-
(2007)
Apoptosis
, vol.12
, pp. 913-922
-
-
Ott, M.1
Gogvadze, V.2
Orrenius, S.3
-
44
-
-
56449129616
-
Cellular stress response: a novel target for chemoprevention and nutritional neuroprotection in aging, neurodegenerative disorders and longevity
-
Calabrese, V., C. Cornelius, C. Mancuso, et al 2008. Cellular stress response: a novel target for chemoprevention and nutritional neuroprotection in aging, neurodegenerative disorders and longevity. Neurochem. Res. 33: 2444-2471.
-
(2008)
Neurochem. Res.
, vol.33
, pp. 2444-2471
-
-
Calabrese, V.1
Cornelius, C.2
Mancuso, C.3
-
45
-
-
33749986298
-
Free radicals and antioxidants in normal physiological functions and human disease
-
Valko, M., D. Leibfritz, J. Moncol, et al 2007. Free radicals and antioxidants in normal physiological functions and human disease. Int. J. Biochem. Cell Biol. 39: 44-84.
-
(2007)
Int. J. Biochem. Cell Biol.
, vol.39
, pp. 44-84
-
-
Valko, M.1
Leibfritz, D.2
Moncol, J.3
-
46
-
-
77954316995
-
Oxidative stress and altered mitochondrial function in neurodegenerative diseases: lessons from mouse models
-
Fernandez-Checa, J.C., A. Fernandez, A. Morales, et al 2010. Oxidative stress and altered mitochondrial function in neurodegenerative diseases: lessons from mouse models. CNS Neurol. Disord. Drug Targets 9: 439-454.
-
(2010)
CNS Neurol. Disord. Drug Targets
, vol.9
, pp. 439-454
-
-
Fernandez-Checa, J.C.1
Fernandez, A.2
Morales, A.3
-
47
-
-
0037441379
-
The selenoprotein GPX4 is essential for mouse development and protects from radiation and oxidative damage insults
-
Yant, L.J., Q. Ran, L. Rao, et al 2003. The selenoprotein GPX4 is essential for mouse development and protects from radiation and oxidative damage insults. Free Radic. Biol. Med. 34: 496-502.
-
(2003)
Free Radic. Biol. Med.
, vol.34
, pp. 496-502
-
-
Yant, L.J.1
Ran, Q.2
Rao, L.3
-
48
-
-
0037305881
-
The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice
-
Nonn, L., R.R. Williams, R.P. Erickson, et al 2003. The absence of mitochondrial thioredoxin 2 causes massive apoptosis, exencephaly, and early embryonic lethality in homozygous mice. Mol. Cell Biol. 23: 916-922.
-
(2003)
Mol. Cell Biol.
, vol.23
, pp. 916-922
-
-
Nonn, L.1
Williams, R.R.2
Erickson, R.P.3
-
49
-
-
0029838063
-
Neurodegeneration, myocardial injury, and perinatal death in mitochondrial superoxide dismutase-deficient mice
-
Lebovitz, R.M., H. Zhang, H. Vogel, et al 1996. Neurodegeneration, myocardial injury, and perinatal death in mitochondrial superoxide dismutase-deficient mice. Proc. Natl. Acad. Sci. USA 93: 9782-9787.
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 9782-9787
-
-
Lebovitz, R.M.1
Zhang, H.2
Vogel, H.3
-
50
-
-
84859732309
-
Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence, new perspective for Rett syndrome
-
Squillaro, T., N. Alessio, M. Cipollaro, et al 2012. Reduced expression of MECP2 affects cell commitment and maintenance in neurons by triggering senescence, new perspective for Rett syndrome. Mol. Biol. Cell. 23: 1435-1445.
-
(2012)
Mol. Biol. Cell.
, vol.23
, pp. 1435-1445
-
-
Squillaro, T.1
Alessio, N.2
Cipollaro, M.3
-
51
-
-
77951020598
-
Rett syndrome microglia damage dendrites and synapses by the elevated release of glutamate
-
Maezawa, I. & L.W. Jin 2010. Rett syndrome microglia damage dendrites and synapses by the elevated release of glutamate. J. Neurosci. 30: 5346-5356.
-
(2010)
J. Neurosci.
, vol.30
, pp. 5346-5356
-
-
Maezawa, I.1
Jin, L.W.2
-
52
-
-
79960907896
-
A role for glia in the progression of Rett's syndrome
-
Lioy, D.T., S.K. Garg, C.E. Monaghan, et al 2011. A role for glia in the progression of Rett's syndrome. Nature 475: 497-500.
-
(2011)
Nature
, vol.475
, pp. 497-500
-
-
Lioy, D.T.1
Garg, S.K.2
Monaghan, C.E.3
-
53
-
-
84859454582
-
Wild-type microglia arrest pathology in a mouse model of Rett syndrome
-
Derecki, N.C., J.C. Cronk, Z. Lu, et al 2012. Wild-type microglia arrest pathology in a mouse model of Rett syndrome. Nature 484: 105-109.
-
(2012)
Nature
, vol.484
, pp. 105-109
-
-
Derecki, N.C.1
Cronk, J.C.2
Lu, Z.3
-
54
-
-
0021351203
-
Oxygen toxicity, oxygen radicals, transition metals and disease
-
Halliwell, B. & J.M.C. Gutteridge. 1985. Oxygen toxicity, oxygen radicals, transition metals and disease. Biochem. J. 219: 1-14.
-
(1985)
Biochem. J.
, vol.219
, pp. 1-14
-
-
Halliwell, B.1
Gutteridge, J.M.C.2
-
55
-
-
0036532552
-
Iron release, oxidative stress and erythrocyte ageing
-
Comporti, M., C. Signorini, G. Buonocore, et al 2002. Iron release, oxidative stress and erythrocyte ageing. Free Radic. Biol. Med. 32: 568-576.
-
(2002)
Free Radic. Biol. Med.
, vol.32
, pp. 568-576
-
-
Comporti, M.1
Signorini, C.2
Buonocore, G.3
-
56
-
-
2942620602
-
Iron release, superoxide production and binding of autologous IgG to band 3 dimers in newborn and adult erythrocytes exposed to hypoxia and hypoxia-reoxygenation
-
Ciccoli, L., V. Rossi, S. Leoncini, et al 2004. Iron release, superoxide production and binding of autologous IgG to band 3 dimers in newborn and adult erythrocytes exposed to hypoxia and hypoxia-reoxygenation. Biochim. Biophys. Acta 1672: 203-213.
-
(2004)
Biochim. Biophys. Acta
, vol.1672
, pp. 203-213
-
-
Ciccoli, L.1
Rossi, V.2
Leoncini, S.3
-
58
-
-
0022372212
-
Rat liver microsomal NADPH-dependent release of iron from ferritin and lipid peroxidation
-
Thomas, C.E. & S.D. Aust 1985. Rat liver microsomal NADPH-dependent release of iron from ferritin and lipid peroxidation. Free Radic. Biol. Med. 1: 293-300.
-
(1985)
Free Radic. Biol. Med.
, vol.1
, pp. 293-300
-
-
Thomas, C.E.1
Aust, S.D.2
-
59
-
-
0032557422
-
Effect of deferoxamine and allopurinol on non protein-bound iron concentrations in plasma and cortical brain tissue of newborn lambs following hypoxia ischemia
-
Shadid, M., G. Buonocore, F. Groenendaal, et al 1998. Effect of deferoxamine and allopurinol on non protein-bound iron concentrations in plasma and cortical brain tissue of newborn lambs following hypoxia ischemia. Neurosci. Lett. 248: 5-8.
-
(1998)
Neurosci. Lett.
, vol.248
, pp. 5-8
-
-
Shadid, M.1
Buonocore, G.2
Groenendaal, F.3
-
60
-
-
0025572704
-
A series of prostaglandin F2-like compounds are produced in vivo in humans by a non-cyclooxygenase, free radical-catalyzed mechanism
-
Morrow, J.D., K.E. Hill, R.F. Burk, et al 1990. A series of prostaglandin F2-like compounds are produced in vivo in humans by a non-cyclooxygenase, free radical-catalyzed mechanism. Proc. Natl. Acad. Sci. USA 87: 9383-9387.
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 9383-9387
-
-
Morrow, J.D.1
Hill, K.E.2
Burk, R.F.3
-
61
-
-
13844255036
-
Biomarkers of oxidative stress study III. Effects of the nonsteroidal anti-inflammatory agents indomethacin and meclofenamic acid on measurements of oxidative products of lipids in CCl4 poisoning
-
Kadiiska, M.B., B.C. Gladen, D.D. Baird, et al 2005. Biomarkers of oxidative stress study III. Effects of the nonsteroidal anti-inflammatory agents indomethacin and meclofenamic acid on measurements of oxidative products of lipids in CCl4 poisoning. Free Radic. Biol. Med. 38: 711-718.
-
(2005)
Free Radic. Biol. Med.
, vol.38
, pp. 711-718
-
-
Kadiiska, M.B.1
Gladen, B.C.2
Baird, D.D.3
-
62
-
-
51449093769
-
Beyond prostaglandins-chemistry and biology of cyclic oxygenated metabolites formed by free-radical pathways from polyunsaturated fatty acids
-
Jahn, U., T. Durand & J.-M. Galano 2008. Beyond prostaglandins-chemistry and biology of cyclic oxygenated metabolites formed by free-radical pathways from polyunsaturated fatty acids. Angew. Chem. Int. Ed. 47: 5894-5955.
-
(2008)
Angew. Chem. Int. Ed.
, vol.47
, pp. 5894-5955
-
-
Jahn, U.1
Durand, T.2
Galano, J.-M.3
-
63
-
-
80054080478
-
Isoprostane generation and function
-
Milne G.L., H. Yin, K.D. Hardy, et al 2011. Isoprostane generation and function. Chem. Rev. 111: 5973-5996.
-
(2011)
Chem. Rev.
, vol.111
, pp. 5973-5996
-
-
Milne, G.L.1
Yin, H.2
Hardy, K.D.3
-
64
-
-
0032515237
-
F4-isoprostanes: a novel class of prostanoids formed during peroxidation of docosahexaenoic acid (DHA)
-
Nourooz-Zadeh, J., E.H.C. Liu, E.E. Änggärd, et al 1998. F4-isoprostanes: a novel class of prostanoids formed during peroxidation of docosahexaenoic acid (DHA). Biochem. Biophys. Res. Commun. 242: 338-344.
-
(1998)
Biochem. Biophys. Res. Commun.
, vol.242
, pp. 338-344
-
-
Nourooz-Zadeh, J.1
Liu, E.H.C.2
Änggärd, E.E.3
-
65
-
-
0032577553
-
Formation of isoprostane-like compounds (neuroprostanes) in vivo from docosahexaenoic acid
-
Roberts, L.J., T.J. Montine, W.R. Markesbery, et al 1998. Formation of isoprostane-like compounds (neuroprostanes) in vivo from docosahexaenoic acid. J. Biol. Chem. 273: 13605-13612.
-
(1998)
J. Biol. Chem
, vol.273
, pp. 13605-13612
-
-
Roberts, L.J.1
Montine, T.J.2
Markesbery, W.R.3
-
66
-
-
0022302720
-
Lipids of nervous tissue: composition and metabolism
-
Sastry, P.S. 1985. Lipids of nervous tissue: composition and metabolism. Prog. Lipid Res. 24: 69-176.
-
(1985)
Prog. Lipid Res.
, vol.24
, pp. 69-176
-
-
Sastry, P.S.1
-
67
-
-
0344628663
-
Quantification of F-ring isoprostane-like compounds (F4-neuroprostanes) derived from docosahexaenoic acid in vivo in humans by a stable isotope dilution mass spectrometric assay
-
Musiek, E.S., J.K. Cha, H. Yin, et al 2004. Quantification of F-ring isoprostane-like compounds (F4-neuroprostanes) derived from docosahexaenoic acid in vivo in humans by a stable isotope dilution mass spectrometric assay. J. Chrom. B: Analyt. Technol. Biomed. Life Sci. 799: 95-102.
-
(2004)
J. Chrom. B: Analyt. Technol. Biomed. Life Sci.
, vol.799
, pp. 95-102
-
-
Musiek, E.S.1
Cha, J.K.2
Yin, H.3
-
68
-
-
0032586942
-
F4-isoprostanes as specific marker of docosahexaenoic acdid peroxidation in Alzheimer's disease
-
Nourooz-Zadeh, J., E.H. Liu, B. Yhlen, et al 1999. F4-isoprostanes as specific marker of docosahexaenoic acdid peroxidation in Alzheimer's disease. J. Neurochem. 72: 734-740.
-
(1999)
J. Neurochem.
, vol.72
, pp. 734-740
-
-
Nourooz-Zadeh, J.1
Liu, E.H.2
Yhlen, B.3
-
69
-
-
0031577196
-
Evidence for the formation of F3-isoprostanes during peroxidation of eicosapentaenoic acid
-
Nourooz-Zadeh, J., B. Halliwell & E.E. Änggård 1997. Evidence for the formation of F3-isoprostanes during peroxidation of eicosapentaenoic acid. Biochem. Biophys. Res. Commun. 236: 467-472.
-
(1997)
Biochem. Biophys. Res. Commun.
, vol.236
, pp. 467-472
-
-
Nourooz-Zadeh, J.1
Halliwell, B.2
Änggård, E.E.3
-
70
-
-
33845564161
-
Oxidized derivatives of omega-3 fatty acids: identification of IPF3 alpha-VI in human urine
-
Lawson, J.A., S. Kim, W.S. Powell, et al 2006. Oxidized derivatives of omega-3 fatty acids: identification of IPF3 alpha-VI in human urine. J. Lipid. Res. 47: 2515-2524.
-
(2006)
J. Lipid. Res.
, vol.47
, pp. 2515-2524
-
-
Lawson, J.A.1
Kim, S.2
Powell, W.S.3
-
71
-
-
50049106295
-
F2-dihomo-isoprostanes arise from free radical attack on adrenic acid
-
VanRollins, M., R.L. Woltjer, H. Yin, et al 2008. F2-dihomo-isoprostanes arise from free radical attack on adrenic acid. J. Lipid Res. 49: 995-1005.
-
(2008)
J. Lipid Res.
, vol.49
, pp. 995-1005
-
-
VanRollins, M.1
Woltjer, R.L.2
Yin, H.3
-
72
-
-
0023554780
-
Reduced concentrations of ascorbic acid and glutathione in a single case of Rett syndrome: a postmortem brain study
-
Sofić, E., P. Riederer, W. Killian, et al 1987. Reduced concentrations of ascorbic acid and glutathione in a single case of Rett syndrome: a postmortem brain study. Brain Dev. 9: 529-531.
-
(1987)
Brain Dev.
, vol.9
, pp. 529-531
-
-
Sofić, E.1
Riederer, P.2
Killian, W.3
-
75
-
-
4043112183
-
Oxidative damage to methyl-CpG sequences inhibits the binding of the methyl-CpG binding domain (MBD) of methyl-CpG binding protein 2 (MeCP2)
-
Valinluck V., H.H. Tsai, D.K. Rogstad, et al 2004. Oxidative damage to methyl-CpG sequences inhibits the binding of the methyl-CpG binding domain (MBD) of methyl-CpG binding protein 2 (MeCP2). Nucleic Acids Res. 32: 4100-4108.
-
(2004)
Nucleic Acids Res.
, vol.32
, pp. 4100-4108
-
-
Valinluck, V.1
Tsai, H.H.2
Rogstad, D.K.3
-
76
-
-
33645105113
-
Secretion of brain-derived neurotrophic factor from PC12 cells in response to oxidative stress requires autocrine dopamine signaling
-
Wang, H., G. Yuan, N.R. Prabhakar, et al 2006. Secretion of brain-derived neurotrophic factor from PC12 cells in response to oxidative stress requires autocrine dopamine signaling. J. Neurochem. 96: 694-705.
-
(2006)
J. Neurochem.
, vol.96
, pp. 694-705
-
-
Wang, H.1
Yuan, G.2
Prabhakar, N.R.3
-
77
-
-
28744448245
-
Differential regulation of c-jun and CREB by acrolein and 4-hydroxynonenal
-
Pugazhenthi, S., K. Phansalkar, G. Audesirk, et al 2006. Differential regulation of c-jun and CREB by acrolein and 4-hydroxynonenal. Free Radic. Biol. Med. 40: 21-34.
-
(2006)
Free Radic. Biol. Med.
, vol.40
, pp. 21-34
-
-
Pugazhenthi, S.1
Phansalkar, K.2
Audesirk, G.3
-
78
-
-
56649107908
-
Mecp2-null mice provide new neuronal targets for Rett syndrome
-
Urdinguio, R.G., L. Lopez-Serra, P. Lopez-Nieva, et al 2008. Mecp2-null mice provide new neuronal targets for Rett syndrome. PLoS One 3: e3669.
-
(2008)
PLoS One
, vol.3
-
-
Urdinguio, R.G.1
Lopez-Serra, L.2
Lopez-Nieva, P.3
-
79
-
-
0033112848
-
Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835
-
Cardaioli, E., M.T. Dotti, J. Hayek, et al 1999. Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835. J. Submicrosc. Cytol. Pathol. 31: 301-304.
-
(1999)
J. Submicrosc. Cytol. Pathol.
, vol.31
, pp. 301-304
-
-
Cardaioli, E.1
Dotti, M.T.2
Hayek, J.3
-
80
-
-
33745479882
-
Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome
-
Kriaucionis, S., A. Paterson, J. Curtis, et al 2006. Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome. Mol. Cell. Biol. 26: 5033-5042.
-
(2006)
Mol. Cell. Biol.
, vol.26
, pp. 5033-5042
-
-
Kriaucionis, S.1
Paterson, A.2
Curtis, J.3
-
81
-
-
0026688851
-
A review of the respiratory disorder in the Rett syndrome
-
Kerr, A.M. 1992. A review of the respiratory disorder in the Rett syndrome. Brain Dev. Suppl. 14: 43-45.
-
(1992)
Brain Dev. Suppl.
, vol.14
, pp. 43-45
-
-
Kerr, A.M.1
-
82
-
-
0031443159
-
Functional evidence of brain stem immaturity in Rett syndrome
-
Julu, P.O., A.M. Kerr, S. Hansen, et al 1997. Functional evidence of brain stem immaturity in Rett syndrome. Eur. Child Adolesc. Psychiatry 6: 47-54.
-
(1997)
Eur. Child Adolesc. Psychiatry
, vol.6
, pp. 47-54
-
-
Julu, P.O.1
Kerr, A.M.2
Hansen, S.3
-
83
-
-
0032956073
-
Recent insights into hyperventilation from the study of Rett syndrome
-
Kerr, A.M. & P.O. Julu 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
-
84
-
-
0035409467
-
Characterization of breathing and associated central autonomic dysfunction in the Rett disorder
-
Julu, P.O., A.M. Kerr, F. Apartopoulos, et al 2001. Characterization 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
-
85
-
-
0023157148
-
Rett's syndrome: characterization of respiratory patterns and sleep
-
Glaze, D.G., J.D. Frost, H.Y. Zoghbi, et al 1987. Rett's syndrome: characterization of respiratory patterns and sleep. Ann. Neurol. 21: 377-382.
-
(1987)
Ann. Neurol.
, vol.21
, pp. 377-382
-
-
Glaze, D.G.1
Frost, J.D.2
Zoghbi, H.Y.3
-
86
-
-
57349174628
-
Autonomic dysregulation in young girls with Rett syndrome during nighttime in-home recordings
-
Weese-Mayer, D.E., S.P. Lieske, C.M. Boothby, et al 2008. Autonomic dysregulation in young girls with Rett syndrome during nighttime in-home recordings. Pediatr. Pulmonol. 43: 1045-1060.
-
(2008)
Pediatr. Pulmonol.
, vol.43
, pp. 1045-1060
-
-
Weese-Mayer, D.E.1
Lieske, S.P.2
Boothby, C.M.3
-
87
-
-
45149130401
-
Neural control of breathing: insights from genetic mouse models
-
Gaultier, C. & J. Gallego 2008. Neural control of breathing: insights from genetic mouse models. J. Appl. Physiol. 104: 1522-1530.
-
(2008)
J. Appl. Physiol.
, vol.104
, pp. 1522-1530
-
-
Gaultier, C.1
Gallego, J.2
-
88
-
-
84862906021
-
Respiratory disturbances in Rett syndrome: don't forget to evaluate upper airway obstruction
-
Jan 30. [Epub ahead of print].
-
Hagebeuk, E.E., R.P. Bijlmer, J.H. Koelman, et al 2012. Respiratory disturbances in Rett syndrome: don't forget to evaluate upper airway obstruction. J. Child. Neurol. Jan 30. [Epub ahead of print].
-
(2012)
J. Child. Neurol.
-
-
Hagebeuk, E.E.1
Bijlmer, R.P.2
Koelman, J.H.3
-
89
-
-
77956435735
-
Physiological definition of upper airway obstructions in mouse model for Rett syndrome
-
Voituron, N., C. Menuet, M. Dutschmann, et al 2010. Physiological definition of upper airway obstructions in mouse model for Rett syndrome. Respir. Physiol. Neurobiol. 173: 146-156.
-
(2010)
Respir. Physiol. Neurobiol.
, vol.173
, pp. 146-156
-
-
Voituron, N.1
Menuet, C.2
Dutschmann, M.3
-
90
-
-
84857271395
-
Morphological changes and oxidative damage in Rett syndrome erythrocytes
-
Ciccoli, L., C. De Felice, E. Paccagnini, et al 2012. Morphological changes and oxidative damage in Rett syndrome erythrocytes. Biochim. Biophys. Acta 1820: 511-520.
-
(2012)
Biochim. Biophys. Acta
, vol.1820
, pp. 511-520
-
-
Ciccoli, L.1
De Felice, C.2
Paccagnini, E.3
-
91
-
-
81855217494
-
F2-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome
-
De Felice, C., C. Signorini, T. Durand, et al 2011. F2-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome. J. Lipid Res. 52: 2287-2297.
-
(2011)
J. Lipid Res.
, vol.52
, pp. 2287-2297
-
-
De Felice, C.1
Signorini, C.2
Durand, T.3
-
92
-
-
80053109845
-
Central nervous system myelin: structure, synthesis and assembly
-
Aggarwal, S., L. Yurlova & M. Simons 2011. Central nervous system myelin: structure, synthesis and assembly. Trends Cell Biol. 21: 585-593.
-
(2011)
Trends Cell Biol.
, vol.21
, pp. 585-593
-
-
Aggarwal, S.1
Yurlova, L.2
Simons, M.3
-
94
-
-
80052009849
-
Oxidative stress in Rett syndrome: natural history, genotype, and variants
-
Leoncini, S., C. De Felice, C. Signorini, et al 2011. Oxidative stress in Rett syndrome: natural history, genotype, and variants. Redox Rep. 16: 145-153.
-
(2011)
Redox Rep.
, vol.16
, pp. 145-153
-
-
Leoncini, S.1
De Felice, C.2
Signorini, C.3
-
95
-
-
84866006373
-
Partial rescue of Rett syndrome by ω-3 polyunsaturated fatty acids (PUFAs) oil
-
Mar 8. [Epub ahead of print].
-
De Felice, C., C. Signorini, T. Durand, et al 2012. Partial rescue of Rett syndrome by ω-3 polyunsaturated fatty acids (PUFAs) oil. Genes Nutr. Mar 8. [Epub ahead of print].
-
(2012)
Genes Nutr.
-
-
De Felice, C.1
Signorini, C.2
Durand, T.3
-
96
-
-
84859598872
-
Biology of mitochondria in neurodegenerative diseases
-
Martin, LJ. 2012. Biology of mitochondria in neurodegenerative diseases. Prog. Mol Biol. Transl. Sci. 107: 355-415.
-
(2012)
Prog. Mol Biol. Transl. Sci.
, vol.107
, pp. 355-415
-
-
Martin, L.J.1
-
97
-
-
84855320950
-
Clusterin in Alzheimer's disease
-
Wu, Z.C., J.T. Yu, Y. Li, et al 2012. Clusterin in Alzheimer's disease. Adv. Clin. Chem. 56: 155-173.
-
(2012)
Adv. Clin. Chem.
, vol.56
, pp. 155-173
-
-
Wu, Z.C.1
Yu, J.T.2
Li, Y.3
-
98
-
-
84855174920
-
Multiple sclerosis is not a disease of the immune system
-
Corthals, A.P. 2011. Multiple sclerosis is not a disease of the immune system. Q. Rev. Biol. 86: 287-321.
-
(2011)
Q. Rev. Biol.
, vol.86
, pp. 287-321
-
-
Corthals, A.P.1
-
99
-
-
84859508314
-
Oxidative stress and mitochondrial dysfunction in Down syndrome
-
Pagano, G. & G. Castello 2012. Oxidative stress and mitochondrial dysfunction in Down syndrome. Adv. Exp. Med. Biol. 724: 291-299.
-
(2012)
Adv. Exp. Med. Biol.
, vol.724
, pp. 291-299
-
-
Pagano, G.1
Castello, G.2
-
100
-
-
84855583479
-
Oxidative stress and down syndrome: a route toward Alzheimer-like dementia
-
Perluigi, M. & D.A. Butterfield 2012. Oxidative stress and down syndrome: a route toward Alzheimer-like dementia. Curr. Gerontol. Geriatr. Res. 2012: 724904.
-
(2012)
Curr. Gerontol. Geriatr. Res.
, vol.2012
, pp. 724904
-
-
Perluigi, M.1
Butterfield, D.A.2
-
101
-
-
80054875852
-
Mitochondrial dysfunction and Down's syndrome: is there a role for coenzyme Q(10)?
-
Tiano, L. & J. Busciglio 2011. Mitochondrial dysfunction and Down's syndrome: is there a role for coenzyme Q(10)? Biofactors 37: 386-392.
-
(2011)
Biofactors
, vol.37
, pp. 386-392
-
-
Tiano, L.1
Busciglio, J.2
-
102
-
-
80053569380
-
Evaluation of urinary biomarkers of oxidative/nitrosative stress in children with Down syndrome
-
Campos, C., R. Guzmán, E. López-Fernández, et al 2011. Evaluation of urinary biomarkers of oxidative/nitrosative stress in children with Down syndrome. Life Sci. 89: 655-661.
-
(2011)
Life Sci.
, vol.89
, pp. 655-661
-
-
Campos, C.1
Guzmán, R.2
López-Fernández, E.3
-
103
-
-
79953120069
-
Oxidative stress occurs early in Down syndrome pregnancy: a redox proteomics analysis of amniotic fluid
-
Perluigi, M., F. di Domenico, A. Fiorini, et al 2011. Oxidative stress occurs early in Down syndrome pregnancy: a redox proteomics analysis of amniotic fluid. Proteomics Clin. Appl. 5: 167-178.
-
(2011)
Proteomics Clin. Appl.
, vol.5
, pp. 167-178
-
-
Perluigi, M.1
di Domenico, F.2
Fiorini, A.3
-
104
-
-
0020507697
-
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome:report of 35 cases
-
Hagberg, B., J. Aicardi, K. Dias, et al. 1983. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome:report of 35 cases. Ann. Neurol. 14: 471-479.
-
(1983)
Ann. Neurol.
, vol.14
, pp. 471-479
-
-
Hagberg, B.1
Aicardi, J.2
Dias, K.3
-
105
-
-
0021926093
-
The clinical pattern of the Rett syndrome
-
Hanefeld, F. 1985. The clinical pattern of the Rett syndrome. Brain Dev. 7: 320-325.
-
(1985)
Brain Dev.
, vol.7
, pp. 320-325
-
-
Hanefeld, F.1
-
106
-
-
0022005250
-
Rett syndrome: report of eight cases
-
Rolando, S. 1985. Rett syndrome: report of eight cases. Brain Dev. 7: 290-296.
-
(1985)
Brain Dev.
, vol.7
, pp. 290-296
-
-
Rolando, S.1
-
107
-
-
0026765446
-
Age-related occurrence of signs and symptoms in the Rett syndrome
-
Witt Engerström, I. 1992. Age-related occurrence of signs and symptoms in the Rett syndrome. Brain Dev. 14(Suppl): S11-S20.
-
(1992)
Brain Dev.
, vol.14
, Issue.SUPPL
-
-
Witt Engerström, I.1
-
108
-
-
0026658662
-
Characterization of MeCP2, a vertebrate DNA binding protein with affinity for methylated DNA
-
Meehan, R.R., J.D. Lewis, A.P. Bird 1992. Characterization of MeCP2, a vertebrate DNA binding protein with affinity for methylated DNA. Nucleic Acids Res. 20: 5085-5092.
-
(1992)
Nucleic Acids Res.
, vol.20
, pp. 5085-5092
-
-
Meehan, R.R.1
Lewis, J.D.2
Bird, A.P.3
-
110
-
-
0032764776
-
Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death
-
Guideri F., M. Acampa, J. Hayek, et al. 1999. Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death. Neuropediatrics 30: 146-148.
-
(1999)
Neuropediatrics
, vol.30
, pp. 146-148
-
-
Guideri, F.1
Acampa, M.2
Hayek, J.3
-
111
-
-
0034088550
-
Preserved speech variant is allelic of classic Rett syndrome
-
De Bona, C., M. Zappella, J. Hayek, et al. 2000. Preserved speech variant is allelic of classic Rett syndrome. Europ. J. Hum. Genet. 8: 325-330.
-
(2000)
Europ. J. Hum. Genet.
, vol.8
, pp. 325-330
-
-
De Bona, C.1
Zappella, M.2
Hayek, J.3
-
112
-
-
0035094767
-
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
-
Guy, J., B. Hendrich, M. Holmes, et al. 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
-
113
-
-
0035093830
-
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
-
Chen, R.Z., S. Akbarian, M. Tudor, et al. 2001. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat. Genet. 27: 327-33.
-
(2001)
Nat. Genet.
, vol.27
, pp. 327-333
-
-
Chen, R.Z.1
Akbarian, S.2
Tudor, M.3
-
114
-
-
26444495179
-
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
-
Mari, F., S. Azimonti, I. Bertani et al. 2005. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum. Mol. Genet. 14: 1935-1946.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 1935-1946
-
-
Mari, F.1
Azimonti, S.2
Bertani, I.3
-
115
-
-
13444263520
-
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
-
Scala, E., F. Ariani, F. Mari, et al. 2005. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J. Med. Genet. 42: 103-107.
-
(2005)
J. Med. Genet.
, vol.42
, pp. 103-107
-
-
Scala, E.1
Ariani, F.2
Mari, F.3
-
116
-
-
45849105557
-
MeCP2, a key contributor to neurological disease, activates and represses transcription
-
Chahrour, M., S.Y. Jung, C. Shaw, et al. 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
-
117
-
-
40849120482
-
Bone ultrasonography at phalanxes in patients with Rett syndrome: a 3-year longitudinal study
-
Gonnelli, S., C. Caffarelli, J. Hayek, et al. 2008. Bone ultrasonography at phalanxes in patients with Rett syndrome: a 3-year longitudinal study. Bone 42: 737-742.
-
(2008)
Bone
, vol.42
, pp. 737-742
-
-
Gonnelli, S.1
Caffarelli, C.2
Hayek, J.3
-
118
-
-
78650903501
-
Rett syndrome: revised diagnostic criteria and nomenclature
-
Neul, J.L., W.E. Kaufmann, D.G. Glaze, et al. 2010. Rett syndrome: revised diagnostic criteria and nomenclature. Ann. Neurol. 68: 944-950.
-
(2010)
Ann. Neurol.
, vol.68
, pp. 944-950
-
-
Neul, J.L.1
Kaufmann, W.E.2
Glaze, D.G.3
-
119
-
-
77955354404
-
Unrecognized lung disease in classic Rett syndrome: a physiologic and high-resolution CT imaging study
-
De Felice, C., G. Guazzi, M. Rossi, et al. 2010. Unrecognized lung disease in classic Rett syndrome: a physiologic and high-resolution CT imaging study. Chest 138: 386-392.
-
(2010)
Chest
, vol.138
, pp. 386-392
-
-
De Felice, C.1
Guazzi, G.2
Rossi, M.3
-
120
-
-
76849094693
-
Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state
-
Skene P.J., R.S. Illingworth, S. Webb, et al. 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
-
121
-
-
78149431869
-
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
-
Chao, H.T., H. Chen, R.C. Samaco, 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
-
123
-
-
80053579176
-
Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function
-
Cohen, S., H.W. Gabel, M. Hemberg, et al. 2011. Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function. Neuron 72: 72-85.
-
(2011)
Neuron
, vol.72
, pp. 72-85
-
-
Cohen, S.1
Gabel, H.W.2
Hemberg, M.3
-
124
-
-
66149139048
-
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome
-
Ramocki, M.B., S.U. Peters, Y.J. Tavyev, et al. 2009. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Ann. Neurol. 66: 771-782.
-
(2009)
Ann. Neurol.
, vol.66
, pp. 771-782
-
-
Ramocki, M.B.1
Peters, S.U.2
Tavyev, Y.J.3
-
125
-
-
33745589291
-
A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis
-
Donzel-Javouhey, A., C. Thauvin-Robinet, V. Cusin, et al. 2006. A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis. Am. J. Med. Genet. A 140: 1603-1607.
-
(2006)
Am. J. Med. Genet. A
, vol.140
, pp. 1603-1607
-
-
Donzel-Javouhey, A.1
Thauvin-Robinet, C.2
Cusin, V.3
-
126
-
-
10744223795
-
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation
-
Gomot, M., C. Gendrot, A. Verloes, et al. 2003. MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation. Am. J. Med. Genet. A 123A: 129-139.
-
(2003)
Am. J. Med. Genet. A
, vol.123 A
, pp. 129-139
-
-
Gomot, M.1
Gendrot, C.2
Verloes, A.3
-
127
-
-
0035160042
-
Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification
-
Colantuoni, C., O.H. Jeon, K. Hyder, et al. 2001. Gene expression profiling in postmortem Rett Syndrome brain: differential gene expression and patient classification. Neurobiol. Dis. 8: 847-865.
-
(2001)
Neurobiol. Dis.
, vol.8
, pp. 847-865
-
-
Colantuoni, C.1
Jeon, O.H.2
Hyder, K.3
-
128
-
-
79958249155
-
Expression of global oxidative stress and matrix metalloproteinases is associated with rett syndrome
-
Carmeli, E., A. Bachar, R. Beiker Expression of global oxidative stress and matrix metalloproteinases is associated with rett syndrome. 2011. Neurochemical J. 5: 141-145.
-
(2011)
Neurochemical J.
, vol.5
, pp. 141-145
-
-
Carmeli, E.1
Bachar, A.2
Beiker, R.3
-
129
-
-
79952765428
-
Increased levels of 4HNE-protein plasma adducts in Rett syndrome
-
2011.
-
Pecorelli, A., L. Ciccoli, C. Signorini, et al. 2011. Increased levels of 4HNE-protein plasma adducts in Rett syndrome. 2011. Clin. Biochem. 44: 368.
-
(2011)
Clin. Biochem.
, vol.44
, pp. 368
-
-
Pecorelli, A.1
Ciccoli, L.2
Signorini, C.3
-
130
-
-
0027949134
-
Elevated CSF lactate in the Rett syndrome: cause or consequence
-
Lappalainen, R. & R.S. Riikonen 1994. Elevated CSF lactate in the Rett syndrome: cause or consequence? Brain Dev. 16:399-401.
-
(1994)
Brain Dev.
, vol.16
, pp. 399-401
-
-
Lappalainen, R.1
Riikonen, R.S.2
-
131
-
-
0026561909
-
The Rett syndrome and CSF lactic acid patterns
-
Matsuishi, T., F. Urabe, H. Komori, et al. 1992. The Rett syndrome and CSF lactic acid patterns. Brain Dev. 14: 68-70.
-
(1992)
Brain Dev.
, vol.14
, pp. 68-70
-
-
Matsuishi, T.1
Urabe, F.2
Komori, H.3
-
132
-
-
0029021716
-
Oxidative metabolism in Rett syndrome: 2. Biochemical and molecular studies
-
Haas RH., F. Nasirian, X. Hua, et al. 1995. Oxidative metabolism in Rett syndrome: 2. Biochemical and molecular studies. Neuropediatrics 26: 95-99.
-
(1995)
Neuropediatrics
, vol.26
, pp. 95-99
-
-
Haas, R.H.1
Nasirian, F.2
Hua, X.3
-
133
-
-
0026771999
-
The neuropathology of the Rett syndrome
-
Armostrong, D.D. 1992. The neuropathology of the Rett syndrome. Brain Dev. Suppl. 14: S89-98.
-
(1992)
Brain Dev. Suppl.
, vol.14
-
-
Armostrong, D.D.1
-
134
-
-
0024581453
-
Rett syndrome: genetic clues based on mitochondrial changes in muscle
-
Eeg-Olofsson, O., A.G. al-Zuhair, A.S. Teebi, et al. 1989. Rett syndrome: genetic clues based on mitochondrial changes in muscle. Am. J. Med. Genet. 32: 142-144.
-
(1989)
Am. J. Med. Genet.
, vol.32
, pp. 142-144
-
-
Eeg-Olofsson, O.1
al-Zuhair, A.G.2
Teebi, A.S.3
-
136
-
-
0027190361
-
Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study
-
Dotti, M.T., L. Manneschi, A. Malandrini et al. 1993. Mitochondrial dysfunction in Rett syndrome. An ultrastructural and biochemical study. Brain Dev. 15: 103-106.
-
(1993)
Brain Dev.
, vol.15
, pp. 103-106
-
-
Dotti, M.T.1
Manneschi, L.2
Malandrini, A.3
-
137
-
-
0025865424
-
Rett syndrome and mitochondrial enzyme deficiencies
-
Coker, S.B. & A.R. Melnyk 1991. Rett syndrome and mitochondrial enzyme deficiencies. J. Child. Neurol. 6: 164-166.
-
(1991)
J. Child. Neurol.
, vol.6
, pp. 164-166
-
-
Coker, S.B.1
Melnyk, A.R.2
-
138
-
-
0037101849
-
Infantile hypotonia as a presentation of Rett syndrome
-
Heilstedt, H.A., M.D. Shahbazian & B Lee Infantile hypotonia as a presentation of Rett syndrome. 2002. Am. J. Med. Genet. 111: 238-242.
-
(2002)
Am. J. Med. Genet.
, vol.111
, pp. 238-242
-
-
Heilstedt, H.A.1
Shahbazian, M.D.2
Lee, B.3
-
139
-
-
77951243470
-
Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain
-
Gibson, J.H., B. Slobedman, H. KN, et al. 2010. Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain. BMC Neurosci. 11: 53.
-
(2010)
BMC Neurosci.
, vol.11
, pp. 53
-
-
Gibson, J.H.1
Slobedman, B.2
Harikrishnan, K.N.3
-
140
-
-
77950503200
-
Epilepsy and the natural history of Rett syndrome
-
Glaze, D.G., A.K. Percy, S. Skinner, et al. 2010. Epilepsy and the natural history of Rett syndrome. Neurology 74: 909-912.
-
(2010)
Neurology
, vol.74
, pp. 909-912
-
-
Glaze, D.G.1
Percy, A.K.2
Skinner, S.3
-
141
-
-
54349096983
-
Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome
-
Buoni S., R. Zannolli, C.D. Felice, et al. 2008. Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome. Clin. Neurophysiol. 119: 2455-2458.
-
(2008)
Clin. Neurophysiol.
, vol.119
, pp. 2455-2458
-
-
Buoni, S.1
Zannolli, R.2
Felice, C.D.3
-
142
-
-
84874219575
-
-
MECP2-Related Disorders Retrieved from: Last update: April 2, 2009.
-
Christodoulou, J. MECP2-Related Disorders Retrieved from: Last update: April 2, 2009.
-
-
-
Christodoulou, J.1
|