-
1
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
-
R.E. Amir, I.B. Van den Veyver, M. Wan, C.Q. Tran, U. Francke, and H.Y. Zoghbi Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nat. Genet. 23 1999 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
-
2
-
-
0035093830
-
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
-
R.Z. Chen, S. Akbarian, M. Tudor, and R. Jaenisch Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice Nat. Genet. 27 2001 327 331
-
(2001)
Nat. Genet.
, vol.27
, pp. 327-331
-
-
Chen, R.Z.1
Akbarian, S.2
Tudor, M.3
Jaenisch, R.4
-
3
-
-
0242332183
-
Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2
-
W.G. Chen, Q. Chang, Y. Lin, A. Meissner, A.E. West, E.C. Griffith, R. Jaenisch, and M.E. Greenberg Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2 Science 302 2003 885 889
-
(2003)
Science
, vol.302
, pp. 885-889
-
-
Chen, W.G.1
Chang, Q.2
Lin, Y.3
Meissner, A.4
West, A.E.5
Griffith, E.C.6
Jaenisch, R.7
Greenberg, M.E.8
-
4
-
-
0023774407
-
An improved and rapid HPLC-EC method for the isocratic separation of amino acid neurotransmitters from brain tissue and microdialysis perfusates
-
B.A. Donzanti, and K. Yamamoto An improved and rapid HPLC-EC method for the isocratic separation of amino acid neurotransmitters from brain tissue and microdialysis perfusates Life Sci. 43 1988 913 922
-
(1988)
Life Sci.
, vol.43
, pp. 913-922
-
-
Donzanti, B.A.1
Yamamoto, K.2
-
5
-
-
0035094767
-
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
-
J. Guy, B. Hendrich, M. Holmes, J.E. Martin, and A. Bird A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome Nat. Genet. 27 2001 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
-
6
-
-
11244328520
-
Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome
-
S. Horike, S. Cai, M. Miyano, J.F. Cheng, and T. Kohwi-Shigematsu Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome Nat. Genet. 37 2005 31 40
-
(2005)
Nat. Genet.
, vol.37
, pp. 31-40
-
-
Horike, S.1
Cai, S.2
Miyano, M.3
Cheng, J.F.4
Kohwi-Shigematsu, T.5
-
7
-
-
0036256510
-
Neuropathology and immunohistochemistry of brains with Rett syndrome
-
M. Itoh, and S. Takashima Neuropathology and immunohistochemistry of brains with Rett syndrome No To Hattatsu (Tokyo) 34 2002 211 216 (in Japanese)
-
(2002)
No to Hattatsu (Tokyo)
, vol.34
, pp. 211-216
-
-
Itoh, M.1
Takashima, S.2
-
8
-
-
7244243971
-
Abstract MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions
-
N. Kishi, and J.D. Macklis Abstract MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions Mol. Cell. Neurosci. 27 2004 306 321
-
(2004)
Mol. Cell. Neurosci.
, vol.27
, pp. 306-321
-
-
Kishi, N.1
MacKlis, J.D.2
-
9
-
-
0024789017
-
Rett syndrome: Biogenic amines and metabolites in postmortem brain
-
A. Lekman, I. Witt-Engerstrom, J. Gottfries, B.A. Hagberg, A.K. Percy, and L. Svennerholm Rett syndrome: biogenic amines and metabolites in postmortem brain Pediatr. Neurol. 5 November-December (6) 1989 357 362
-
(1989)
Pediatr. Neurol.
, vol.5
, Issue.NOVEMBER-DECEMBER 6
, pp. 357-362
-
-
Lekman, A.1
Witt-Engerstrom, I.2
Gottfries, J.3
Hagberg, B.A.4
Percy, A.K.5
Svennerholm, L.6
-
10
-
-
0025266684
-
CSF and urine biogenic amine metabolites in Rett syndrome
-
A. Lekman, I. Witt-Engerstrom, B. Holmberg, A. Percy, L. Svennerholm, and B. Hagberg CSF and urine biogenic amine metabolites in Rett syndrome Clin. Genet. 37 1990 173 178
-
(1990)
Clin. Genet.
, vol.37
, pp. 173-178
-
-
Lekman, A.1
Witt-Engerstrom, I.2
Holmberg, B.3
Percy, A.4
Svennerholm, L.5
Hagberg, B.6
-
11
-
-
0021929479
-
Rett syndrome - An early catecholamin and indolamine deficient disorder?
-
Y. Nomura, M. Segawa, and M. Higurashi Rett syndrome - an early catecholamin and indolamine deficient disorder? Brain Dev. 7 1985 334 341
-
(1985)
Brain Dev.
, vol.7
, pp. 334-341
-
-
Nomura, Y.1
Segawa, M.2
Higurashi, M.3
-
12
-
-
0023926416
-
Cerebrospinal fluid values for monoamine metabolites, gamma-aminobutyric acid, and other amino compounds in Rett syndrome
-
T.L. Perry, H.G. Dunn, H.H. Ho, and J.U. Crichton Cerebrospinal fluid values for monoamine metabolites, gamma-aminobutyric acid, and other amino compounds in Rett syndrome J. Pediatr. 112 1988 234 238
-
(1988)
J. Pediatr.
, vol.112
, pp. 234-238
-
-
Perry, T.L.1
Dunn, H.G.2
Ho, H.H.3
Crichton, J.U.4
-
13
-
-
10744222971
-
Reduced folate transport to the CNS in female Rett patients
-
V.T. Ramaekers, S.I. Hansen, J. Holm, T. Opladen, J. Senderek, M. Hausler, G. Heimann, B. Fowler, R. Maiwald, and N. Blau Reduced folate transport to the CNS in female Rett patients Neurology 61 2003 506 515
-
(2003)
Neurology
, vol.61
, pp. 506-515
-
-
Ramaekers, V.T.1
Hansen, S.I.2
Holm, J.3
Opladen, T.4
Senderek, J.5
Hausler, M.6
Heimann, G.7
Fowler, B.8
Maiwald, R.9
Blau, N.10
-
14
-
-
0041843793
-
Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome
-
G.V. Ronnett, D. Leopold, X. Cai, K.C. Hoffbuhr, L. Moses, E.P. Hoffman, and S. Naidu Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome Ann. Neurol. 54 2003 206 218
-
(2003)
Ann. Neurol.
, vol.54
, pp. 206-218
-
-
Ronnett, G.V.1
Leopold, D.2
Cai, X.3
Hoffbuhr, K.C.4
Moses, L.5
Hoffman, E.P.6
Naidu, S.7
-
15
-
-
0023888966
-
Diagnostic criteria for Rett syndrome
-
The Rett Syndrome Diagnostic Criteria Work Group, Diagnostic criteria for Rett syndrome, Ann. Neurol. 23 (1988) 425-428.
-
(1988)
Ann. Neurol.
, vol.23
, pp. 425-428
-
-
-
16
-
-
0027182249
-
The effect of age on concentrations of monoamines, amino acids, and their related substances in cerebrospinal fluid
-
H. Tohgi, S. Takahashi, and T. Abe The effect of age on concentrations of monoamines, amino acids, and their related substances in cerebrospinal fluid J. Neural. Transm. 5 1993 215 226
-
(1993)
J. Neural. Transm.
, vol.5
, pp. 215-226
-
-
Tohgi, H.1
Takahashi, S.2
Abe, T.3
-
17
-
-
0024586488
-
Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome
-
H.Y. Zoghbi, S. Milstien, I.J. Butler, E.O. Smith, S. Kaufman, D.G. Glaze, and A.K. Percy Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome Ann. Neurol. 25 1989 56 60
-
(1989)
Ann. Neurol.
, vol.25
, pp. 56-60
-
-
Zoghbi, H.Y.1
Milstien, S.2
Butler, I.J.3
Smith, E.O.4
Kaufman, S.5
Glaze, D.G.6
Percy, A.K.7
|