-
1
-
-
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
-
4
-
-
0020507697
-
Progressive syndrome of autism, dementia, ataxia and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
-
Hagberg, B., Aicardi, J., Dias, K., and Ramos, O. (1983) 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
Ramos, O.4
-
5
-
-
0031454558
-
Rett syndrome: Epidemiology and geographical variability
-
Hagberg, B. and Hagberg, G. (1997) Rett syndrome: epidemiology and geographical variability. Eur. Child. Adolesc. Psychiatry 1, 5-7.
-
(1997)
Eur. Child. Adolesc. Psychiatry
, vol.1
, pp. 5-7
-
-
Hagberg, B.1
Hagberg, G.2
-
6
-
-
0031470764
-
The prevalence and incidence of Rett syndrome in Australia
-
Leonard, H., Bower, C., and English, D. (1997) The prevalence and incidence of Rett syndrome in Australia. Eur. Child. Adolesc. Psychiatry 1, 8-10.
-
(1997)
Eur. Child. Adolesc. Psychiatry
, vol.1
, pp. 8-10
-
-
Leonard, H.1
Bower, C.2
English, D.3
-
7
-
-
0037300472
-
Prevalence of pervasive developmental disorders in the British nationwide survey of child mental health
-
Fombonne, E., Simmons, H., Ford, T., Meltzer, H., and Goodman, R. (2003) Prevalence of pervasive developmental disorders in the British nationwide survey of child mental health. Int. Rev. Psychiatry 15(1-2), 158-165.
-
(2003)
Int. Rev. Psychiatry
, vol.15
, Issue.1-2
, pp. 158-165
-
-
Fombonne, E.1
Simmons, H.2
Ford, T.3
Meltzer, H.4
Goodman, R.5
-
8
-
-
0030962950
-
Rett syndrome: Geographic variation in prevalence in Norway
-
Skesedel, O.H., Von-Tetzchner, S., Aspelund, F., Herder, G.A., and Lofterld, B. (1997) Rett syndrome: geographic variation in prevalence in Norway. Brain Dev. 19, 258-261.
-
(1997)
Brain Dev.
, vol.19
, pp. 258-261
-
-
Skesedel, O.H.1
Von-Tetzchner, S.2
Aspelund, F.3
Herder, G.A.4
Lofterld, B.5
-
9
-
-
0030478329
-
Rett syndrome in northern Tuscany (Italy): Family tree studies
-
Pini, G., Milan, M., and Loppella, M. (1996) Rett syndrome in northern Tuscany (Italy): family tree studies. Clin. Genet. 50, 486-490.
-
(1996)
Clin. Genet.
, vol.50
, pp. 486-490
-
-
Pini, G.1
Milan, M.2
Loppella, M.3
-
10
-
-
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
-
11
-
-
0035836010
-
Rett syndrome: Clinical characteristics and recent genetic advances
-
Ellaway, C. and Christodoulou, J. (2001) Rett syndrome: clinical characteristics and recent genetic advances. Disabil. Rehabil. 23, 98-106.
-
(2001)
Disabil. Rehabil.
, vol.23
, pp. 98-106
-
-
Ellaway, C.1
Christodoulou, J.2
-
13
-
-
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., Franke, U., and Zoghbi, H. (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
Franke, U.5
Zoghbi, H.6
-
14
-
-
17444440488
-
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
-
Amir, R.E., Van den Veyver, I.B., Schultz, R., Malicki, D.M., Tran, C.Q., Dahle, E.I., Philippi, A., Timar, L., Percy, A.K., Motil, K.J., Lichtarge, O., Smith, E.O., Glaze, D.G., and Zoghbi, H.Y. (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
Malicki, D.M.4
Tran, C.Q.5
Dahle, E.I.6
Philippi, A.7
Timar, L.8
Percy, A.K.9
Motil, K.J.10
Lichtarge, O.11
Smith, E.O.12
Glaze, D.G.13
Zoghbi, H.Y.14
-
15
-
-
1642367538
-
Rett syndrome: A prototypical neurodevelopmental disorder
-
Neul, J.L. and Zoghbi, H.Y. (2004) Rett syndrome: a prototypical neurodevelopmental disorder. Neuroscientist 10(2), 118-128.
-
(2004)
Neuroscientist
, vol.10
, Issue.2
, pp. 118-128
-
-
Neul, J.L.1
Zoghbi, H.Y.2
-
16
-
-
0023888966
-
Diagnostic criteria for Rett syndrome
-
The Rett Syndrome Diagnostic Criteria Work Group
-
Trevethan, E. and Moser, H. (1998) Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. Ann. Neurol. 23, 425-428.
-
(1998)
Ann. Neurol.
, vol.23
, pp. 425-428
-
-
Trevethan, E.1
Moser, H.2
-
17
-
-
0037002625
-
An update on clinically applicable diagnostic criteria in Rett syndrome
-
Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001
-
Hagberg, B., Hanefield, F., Percy, A., and Skjeldal, O. (2001) An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur. J. Paediatr. Neurol. 6, 293-297.
-
(2001)
Eur. J. Paediatr. Neurol.
, vol.6
, pp. 293-297
-
-
Hagberg, B.1
Hanefield, F.2
Percy, A.3
Skjeldal, O.4
-
18
-
-
0035204269
-
Mind and brain in Rett disorder
-
Kerr, A.M., Belichenko, P., Woodcock, T., and Woodcock, M. (2001) Mind and brain in Rett disorder. Brain. Dev. 23(Suppl 1), S44-49.
-
(2001)
Brain. Dev.
, vol.23
, Issue.SUPPL. 1
-
-
Kerr, A.M.1
Belichenko, P.2
Woodcock, T.3
Woodcock, M.4
-
19
-
-
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., Azimonti, S., Bertani, I., Bolognese, F., Colombo, E., Caselli, R., Scala, E., Longo, I., Grosso, S., Pescucci, C., Ariani, F., Hayek, G., Balestri, P., Bergo, A., Badaracco, G., Zappella, M., Broccoli, V., Renieri, A., Kilstrup-Nielsen, C., and Landsberger, N. (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. 15(14), 1935-1946.
-
(2005)
Hum. Mol. Genet.
, vol.15
, Issue.14
, pp. 1935-1946
-
-
Mari, F.1
Azimonti, S.2
Bertani, I.3
Bolognese, F.4
Colombo, E.5
Caselli, R.6
Scala, E.7
Longo, I.8
Grosso, S.9
Pescucci, C.10
Ariani, F.11
Hayek, G.12
Balestri, P.13
Bergo, A.14
Badaracco, G.15
Zappella, M.16
Broccoli, V.17
Renieri, A.18
Kilstrup-Nielsen, C.19
Landsberger, N.20
more..
-
20
-
-
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(3), 511-520.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, Issue.3
, pp. 511-520
-
-
Young, J.I.1
Zoghbi, H.Y.2
-
21
-
-
0042278588
-
Patients with the R133C mutation: Is their phenotype different from patients with Rett syndrome with other mutations?
-
Leonard, H., Colvin, L., Christodoulou, J., Schiavello, T., Williamson, S., Davis, M., Ravine, D., Fyfe, S., de Klerk, N., Matsuishi, T., Kondo, I., Clarke, A., Hackwell, S., and Yamashita, Y. (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
Schiavello, T.4
Williamson, S.5
Davis, M.6
Ravine, D.7
Fyfe, S.8
De Klerk, N.9
Matsuishi, T.10
Kondo, I.11
Clarke, A.12
Hackwell, S.13
Yamashita, Y.14
-
22
-
-
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., Gill, H., Fleming, N., Maynard, J., Kerr, A., Leonard, H., Krawczak, M., Cooper, D.N., Lynch, S., Thomas, N., Hughes, H., Hulten, M., Ravine, D., Sampson, J.R., and Clarke, A. (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
Maynard, J.4
Kerr, A.5
Leonard, H.6
Krawczak, M.7
Cooper, D.N.8
Lynch, S.9
Thomas, N.10
Hughes, H.11
Hulten, M.12
Ravine, D.13
Sampson, J.R.14
Clarke, A.15
-
23
-
-
0242332183
-
Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2
-
Charman, T., Neilson, T.C., Mash, V., Archer, H., Gardiner, M.T., Knudsen, G.P., McDonnell, A., Perry, J., Whatley, S.D., Bunyan, D.J., Ravn, K., Mount, R.H., Hastings, R.P., Hulten, M., Orstavik, K.H., Reilly, S., Cass, H., Chen, W.G., Chang, Q., Lin, Y., Meissner, A., West, A.E., Griffith, E.C., Jaenisch, R., and Greenberg, M.E. (2003) Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science 302(5646), 885-889.
-
(2003)
Science
, vol.302
, Issue.5646
, pp. 885-889
-
-
Charman, T.1
Neilson, T.C.2
Mash, V.3
Archer, H.4
Gardiner, M.T.5
Knudsen, G.P.6
McDonnell, A.7
Perry, J.8
Whatley, S.D.9
Bunyan, D.J.10
Ravn, K.11
Mount, R.H.12
Hastings, R.P.13
Hulten, M.14
Orstavik, K.H.15
Reilly, S.16
Cass, H.17
Chen, W.G.18
Chang, Q.19
Lin, Y.20
Meissner, A.21
West, A.E.22
Griffith, E.C.23
Jaenisch, R.24
Greenberg, M.E.25
more..
-
24
-
-
0034701904
-
Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
-
Huppke, P., Laccone, F., Kramer, N., Engel, W., and Hanefeld, F. (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
Engel, W.4
Hanefeld, F.5
-
25
-
-
0033365401
-
Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots
-
Wan, M., Lee, S.S., Zhang, X., Houwink-Manville. I., Song, H.R., Amir, R.E., Budden, S., Naidu, S., Pereira, J.L., Lo, I.F., Zoghbi, H.Y., Schanen, N.C., and Francke, U. (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
Houwink-Manville, I.4
Song, H.R.5
Amir, R.E.6
Budden, S.7
Naidu, S.8
Pereira, J.L.9
Lo, I.F.10
Zoghbi, H.Y.11
Schanen, N.C.12
Francke, U.13
-
26
-
-
0037154144
-
A Rett syndrome MECP2 mutation that causes mental retardation in men
-
Dotti, M.T., Orrico, A., De Stefano, N., Battisti, C., Sicurelli, F., Severi, S., Lam, C.W., Galli, L., Sorrentino, V., and Federico, A. (2002) A Rett syndrome MECP2 mutation that causes mental retardation in men. Neurology 58, 226-230.
-
(2002)
Neurology
, vol.58
, pp. 226-230
-
-
Dotti, M.T.1
Orrico, A.2
De Stefano, N.3
Battisti, C.4
Sicurelli, F.5
Severi, S.6
Lam, C.W.7
Galli, L.8
Sorrentino, V.9
Federico, A.10
-
27
-
-
0031442903
-
Neurobiology and neurochemistry of Rett syndrome
-
Percy, A.K. (1997) Neurobiology and neurochemistry of Rett syndrome. Eur. Child. Adolesc. Psychiatry 6(Suppl 1), 80-82.
-
(1997)
Eur. Child. Adolesc. Psychiatry
, vol.6
, Issue.SUPPL. 1
, pp. 80-82
-
-
Percy, A.K.1
-
28
-
-
0034891348
-
Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene
-
Schults, R.R., Glaze, D.G., Motil, K.J., Armstrong, D.D., Del-Junco, D.J., Hubbard, C.R., Schwartzman, J.S., Bernardino, A., Nishimura, A., Gomes, R.R., and Zatz, M. (2001) Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics 32, 162-164.
-
(2001)
Neuropediatrics
, vol.32
, pp. 162-164
-
-
Schults, R.R.1
Glaze, D.G.2
Motil, K.J.3
Armstrong, D.D.4
Del-Junco, D.J.5
Hubbard, C.R.6
Schwartzman, J.S.7
Bernardino, A.8
Nishimura, A.9
Gomes, R.R.10
Zatz, M.11
-
29
-
-
33845476040
-
Research Findings on Rett Syndrome
-
May, Las Vegas, Nevada. Tape RS 9
-
Naidu, S. (2000) Research Findings on Rett Syndrome. IRSA Annual Conference, May, Las Vegas, Nevada. Tape RS 9.
-
(2000)
IRSA Annual Conference
-
-
Naidu, S.1
-
30
-
-
75149174252
-
Identifying Early Signs of Rett Disorder and Their Implications for Development
-
A lecture presented at the. June 16-18, Ostersund, Sweden
-
Burford, B. (2003) Identifying Early Signs of Rett Disorder and Their Implications for Development. A lecture presented at the international course on Rett syndrome. June 16-18, Ostersund, Sweden.
-
(2003)
International Course on Rett Syndrome
-
-
Burford, B.1
-
31
-
-
33845496488
-
Signs of Rett Disorder in the First Six Month of Life
-
A lecture presented at the. June 16-18, Ostersund, Sweden
-
Einspieler, C. (2003) Signs of Rett Disorder in the First Six Month of Life. A lecture presented at the international course on Rett syndrome. June 16-18, Ostersund, Sweden.
-
(2003)
International Course on Rett Syndrome
-
-
Einspieler, C.1
-
32
-
-
84878755455
-
-
Accessed October 27, 2006
-
International Rett Syndrome Association web site. FAQ: What are the stages of Rett syndrome?http://www.rettsyndrome.org/content.asp?pl= 147&contentid=961 Accessed October 27, 2006.
-
FAQ: What Are the Stages of Rett Syndrome?
-
-
-
33
-
-
0023919107
-
Rett syndrome: A survey of North American patients
-
Coleman, M., Brubaker, J., Hunter, K., and Smith, G. (1988) Rett syndrome: a survey of North American patients. J. Ment. Def. Res. 32, 117-124.
-
(1988)
J. Ment. Def. Res.
, vol.32
, pp. 117-124
-
-
Coleman, M.1
Brubaker, J.2
Hunter, K.3
Smith, G.4
-
34
-
-
33845488910
-
Autonomic Dysfunction and Aspects of Pharmacological Treatment
-
A lecture presented at the. June 16-18, Ostersund, Sweden
-
Julu, P.O. (2003) Autonomic Dysfunction and Aspects of Pharmacological Treatment. A lecture presented at the international course on Rett syndrome. June 16-18, Ostersund, Sweden.
-
(2003)
International Course on Rett Syndrome
-
-
Julu, P.O.1
-
35
-
-
27144461978
-
Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome
-
Julu, P.O. and Witt Engerstrom, I. (2005) Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome. Brain Dev. 27(Suppl 1), S43-53.
-
(2005)
Brain Dev.
, vol.27
, Issue.SUPPL. 1
-
-
Julu, P.O.1
Witt Engerstrom, I.2
-
36
-
-
0001146052
-
The clinical background to the Rett disorder
-
Kerr, A.M. and Witt-Engerstrom, I., Eds. Oxford University Press, Oxford
-
Kerr, A.M. and Witt Engerstrom, I. (2001) The clinical background to the Rett disorder. In Rett Disorder and the Developing Brain. Kerr, A.M. and Witt-Engerstrom, I., Eds. Oxford University Press, Oxford. pp. 1-26.
-
(2001)
Rett Disorder and the Developing Brain
, pp. 1-26
-
-
Kerr, A.M.1
Witt Engerstrom, I.2
-
37
-
-
33845487526
-
The effect of hand vibrators on the hand stereotypes and function in Rett syndrome - Two case studies
-
[Hebrew]
-
Lotan, M. and Roth, D. (1996) The effect of hand vibrators on the hand stereotypes and function in Rett syndrome - two case studies. Isr. Physiother. Q. 52, 23-26. [Hebrew]
-
(1996)
Isr. Physiother. Q
, vol.52
, pp. 23-26
-
-
Lotan, M.1
Roth, D.2
-
38
-
-
3142753971
-
Trisomy 21 and Rett syndrome: A double burden
-
Leonard, H., Weaving, L., Eastaugh, P., Smith, L., Delatycki, M., Witt Engerstrom, I., and Christodoulou, J. (2004) Trisomy 21 and Rett syndrome: a double burden. J. Paediatr. Child Health. 40, 406-409.
-
(2004)
J. Paediatr. Child Health
, vol.40
, pp. 406-409
-
-
Leonard, H.1
Weaving, L.2
Eastaugh, P.3
Smith, L.4
Delatycki, M.5
Witt Engerstrom, I.6
Christodoulou, J.7
-
39
-
-
0034952081
-
A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening
-
Ellaway, C.J., Badawi, N., Raffaele, L., Christodoulou, J., and Leonard, H. (2001) A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening. Clin. Dysmorph. 10, 185-188.
-
(2001)
Clin. Dysmorph.
, vol.10
, pp. 185-188
-
-
Ellaway, C.J.1
Badawi, N.2
Raffaele, L.3
Christodoulou, J.4
Leonard, H.5
-
40
-
-
0002597037
-
Rett variants - Rettoid phenotypes
-
Hagberg, B., Anvret, M., and Wahlstrom, J., Eds. MacKeith Press, London
-
Hagberg, B. and Gillberg, C. (1993) Rett variants - rettoid phenotypes. In Rett Syndrome - Clinical and Biological Aspects. Hagberg, B., Anvret, M., and Wahlstrom, J., Eds. MacKeith Press, London. pp.40-60.
-
(1993)
Rett Syndrome - Clinical and Biological Aspects
, pp. 40-60
-
-
Hagberg, B.1
Gillberg, C.2
-
41
-
-
0029038394
-
Molecular and neurobiology aspect of Rett syndrome
-
Hanfield, F., Hagberg, B., and Percy, A.K. (1995) Molecular and neurobiology aspect of Rett syndrome. Neuropediatrics 26, 60-61.
-
(1995)
Neuropediatrics
, vol.26
, pp. 60-61
-
-
Hanfield, F.1
Hagberg, B.2
Percy, A.K.3
-
42
-
-
0024516981
-
Rett syndrome: Clinical peculiarities, diagnostic approach, and possible cause
-
Hagberg, B.A. (1989) Rett syndrome: clinical peculiarities, diagnostic approach, and possible cause. Pediatr. Neurol. 5(2), 75-83.
-
(1989)
Pediatr. Neurol.
, vol.5
, Issue.2
, pp. 75-83
-
-
Hagberg, B.A.1
-
43
-
-
0022537016
-
"Forme fruste" of Rett syndrome - A case report
-
Hagberg, B. and Rasmussen, P. (1986) "Forme fruste" of Rett syndrome - a case report. Am. J. Med. Genet. Suppl. 1, 175-181.
-
(1986)
Am. J. Med. Genet. Suppl.
, vol.1
, pp. 175-181
-
-
Hagberg, B.1
Rasmussen, P.2
-
44
-
-
0036120278
-
Rett syndrome: Clinical manifestations in males with MECP2 mutations
-
Ben-Zeev, B., Yaron, Y., Schanen, N.C., Wolf, H., Brandt, N., Ginot, N., Shomrat, R., Or, R., and Urtreger, A. (2002) Rett syndrome: clinical manifestations in males with MECP2 mutations. J. Child. Neurol. 17(1), 20-24.
-
(2002)
J. Child. Neurol.
, vol.17
, Issue.1
, pp. 20-24
-
-
Ben-Zeev, B.1
Yaron, Y.2
Schanen, N.C.3
Wolf, H.4
Brandt, N.5
Ginot, N.6
Shomrat, R.7
Or, R.8
Urtreger, A.9
-
45
-
-
0037215780
-
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)
-
Moog, U., Smeets, E.E., van Roozendaal, K.E., Schoenmakers, S., Herbergs, J., Schoonbrood-Lenssen, A.M., and Schrander-Stumpel, C.T. (2003) Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). Eur. J. Paediatr. Neurol. 7(1), 5-12.
-
(2003)
Eur. J. Paediatr. Neurol.
, vol.7
, Issue.1
, pp. 5-12
-
-
Moog, U.1
Smeets, E.E.2
Van Roozendaal, K.E.3
Schoenmakers, S.4
Herbergs, J.5
Schoonbrood-Lenssen, A.M.6
Schrander-Stumpel, C.T.7
-
46
-
-
13444263520
-
DKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
-
Scala, E., Ariani, F., Mari, F., Caselli, R., Pescucci, C., Longo, I., Meloni, I., Giachino, D., Bruttini, M., Hayek, G., Zappella, M., and Renieri, A. (2005) DKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J. Med. Genet. 42(2), 103-107.
-
(2005)
J. Med. Genet.
, vol.42
, Issue.2
, pp. 103-107
-
-
Scala, E.1
Ariani, F.2
Mari, F.3
Caselli, R.4
Pescucci, C.5
Longo, I.6
Meloni, I.7
Giachino, D.8
Bruttini, M.9
Hayek, G.10
Zappella, M.11
Renieri, A.12
-
47
-
-
0026079908
-
The Rett syndrome and Rett-like syndrome: A board concept
-
Lin, M.Y., Wang, P.J., Lin, L.H., and Shen, Y.Z. (1991) The Rett syndrome and Rett-like syndrome: a board concept. Brain Dev. 13, 228-231.
-
(1991)
Brain Dev.
, vol.13
, pp. 228-231
-
-
Lin, M.Y.1
Wang, P.J.2
Lin, L.H.3
Shen, Y.Z.4
-
48
-
-
0032406038
-
The preserved speech variant: A subgroup of the Rett complex: A clinical report of 30 cases
-
Zappella, M., Gillberg, C., and Ehlers, S. (1998) The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases. J. Autism Dev. Disord. 28, 519-526.
-
(1998)
J. Autism Dev. Disord.
, vol.28
, pp. 519-526
-
-
Zappella, M.1
Gillberg, C.2
Ehlers, S.3
-
49
-
-
26944490315
-
Should a syndrome be called by its correct name? the example of the preserved speech variant of Rett syndrome
-
author reply 711-712
-
Zappella, M., Mari, F., and Renieri, A. (2005) Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome. Eur. J. Pediatr. 164(11), 710; author reply 711-712.
-
(2005)
Eur. J. Pediatr.
, vol.164
, Issue.11
, pp. 710
-
-
Zappella, M.1
Mari, F.2
Renieri, A.3
-
50
-
-
0035192492
-
Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech
-
Yamashita, Y., Kondo, I., Fukuda, T., Morishima, R., Kusaga, A., Iwanaga, R., and Matsuishi, T. (2001) Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech. Brain Dev. 23(Suppl 1), S157-160.
-
(2001)
Brain Dev.
, vol.23
, Issue.SUPPL. 1
-
-
Yamashita, Y.1
Kondo, I.2
Fukuda, T.3
Morishima, R.4
Kusaga, A.5
Iwanaga, R.6
Matsuishi, T.7
-
51
-
-
27144493864
-
Rett syndrome: Model of neurodevelopmental disorders
-
Percy, A.K. and Lane, J.B. (2005) Rett syndrome: model of neurodevelopmental disorders. J. Child. Neurol. 20(9), 718-721.
-
(2005)
J. Child. Neurol.
, vol.20
, Issue.9
, pp. 718-721
-
-
Percy, A.K.1
Lane, J.B.2
-
52
-
-
33750814953
-
International Research Review
-
Paper presented at the, May 24-27, Boston, MA. Tape 622-15
-
Percy, A.K. (1996). International Research Review. Paper presented at the IRSA 12th Annual Conference, May 24-27, Boston, MA. Tape 622-15.
-
(1996)
IRSA 12th Annual Conference
-
-
Percy, A.K.1
-
53
-
-
0032231726
-
A severely affected male born into a RS kinderred supports x-lined
-
Schanen, N.C. (1998) A severely affected male born into a RS kinderred supports x-lined. Am. J. Hum. Genet. 63, 267-269.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 267-269
-
-
Schanen, N.C.1
-
54
-
-
0031831762
-
Neonatal encephalopathy in two boys in families with recurrent Rett Syndrome
-
Schanen, N.C., Kurczynsk, T.W., Brunelle, D., Woodcock, M.M., Dune, L.S., and Percy, A.K. (1998) Neonatal encephalopathy in two boys in families with recurrent Rett Syndrome. J. Child Neurol. 13, 229-231.
-
(1998)
J. Child Neurol.
, vol.13
, pp. 229-231
-
-
Schanen, N.C.1
Kurczynsk, T.W.2
Brunelle, D.3
Woodcock, M.M.4
Dune, L.S.5
Percy, A.K.6
-
55
-
-
0034969850
-
Occurrence of Rett syndrome in boys
-
Leonard, H., Silberstein, J., Falk, R., Houwink-Manville, I., Ellaway, C., Raffaele, L.S., Engerstrom, I.W., and Schanen, C. (2001) Occurrence of Rett syndrome in boys. J. Child Neurol. 16, 333-338.
-
(2001)
J. Child Neurol.
, vol.16
, pp. 333-338
-
-
Leonard, H.1
Silberstein, J.2
Falk, R.3
Houwink-Manville, I.4
Ellaway, C.5
Raffaele, L.S.6
Engerstrom, I.W.7
Schanen, C.8
-
56
-
-
0034891348
-
Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene
-
Schwartzman, J.S., Bernardino, A., Nishimura, A., Gomes, R.R., and Zatz, M. (2001) Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics 32(3), 162-164.
-
(2001)
Neuropediatrics
, vol.32
, Issue.3
, pp. 162-164
-
-
Schwartzman, J.S.1
Bernardino, A.2
Nishimura, A.3
Gomes, R.R.4
Zatz, M.5
-
57
-
-
0034596477
-
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
-
Clayton-Smith, J., Watson, P., Ramsden, S., and Black, G.C. (2000) Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males. Lancet 356, 830-832.
-
(2000)
Lancet
, vol.356
, pp. 830-832
-
-
Clayton-Smith, J.1
Watson, P.2
Ramsden, S.3
Black, G.C.4
-
58
-
-
85047697344
-
Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy
-
Topcu, M., Akyerli, C., Sayi, A., Toruner, G.A., Kocoglu, S.R., Cimbis, M., and Ozcelik, T. (2002) Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur. J. Hum. Genet. 10, 77-81.
-
(2002)
Eur. J. Hum. Genet.
, vol.10
, pp. 77-81
-
-
Topcu, M.1
Akyerli, C.2
Sayi, A.3
Toruner, G.A.4
Kocoglu, S.R.5
Cimbis, M.6
Ozcelik, T.7
-
59
-
-
33845474058
-
Testing for the Gene
-
May 18-21, Las Vegas, Nevada. Tape RS 5
-
Hoffbuhr, K. (2000) Testing for the Gene. IRSA Annual Conference, May 18-21, Las Vegas, Nevada. Tape RS 5.
-
(2000)
IRSA Annual Conference
-
-
Hoffbuhr, K.1
-
60
-
-
0034711147
-
Two affected boys in a Rett syndrome family: Clinical and molecular findings
-
Villard, L., Kpebe, A., Cardoso, C., Chelly, P.J., Tardieu, P.M., and Fontes, M. (2000) Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology 55(8), 1188-1193.
-
(2000)
Neurology
, vol.55
, Issue.8
, pp. 1188-1193
-
-
Villard, L.1
Kpebe, A.2
Cardoso, C.3
Chelly, P.J.4
Tardieu, P.M.5
Fontes, M.6
-
62
-
-
0029062591
-
Microscopic observations of the brain in Rett syndrome
-
Bauman, M.L., Kemper, T.L., and Arin, D.M. (1995) Microscopic observations of the brain in Rett syndrome. Neuropediatrics 26, 105-108.
-
(1995)
Neuropediatrics
, vol.26
, pp. 105-108
-
-
Bauman, M.L.1
Kemper, T.L.2
Arin, D.M.3
-
63
-
-
0027207093
-
The pattern of growth failure in Rett syndrome
-
Percy, A.D. (1993) The pattern of growth failure in Rett syndrome. Am. J. Dis. Child 147, 633-637.
-
(1993)
Am. J. Dis. Child
, vol.147
, pp. 633-637
-
-
Percy, A.D.1
-
65
-
-
0038182387
-
Rett syndrome - An update
-
Jellinger, K.A. (2003) Rett syndrome - an update. J. Neural Transm. 110(6), 681-701.
-
(2003)
J. Neural Transm.
, vol.110
, Issue.6
, pp. 681-701
-
-
Jellinger, K.A.1
-
66
-
-
0029006747
-
Preliminary evidence for neurodegenerative changes in the substantia nigra of Rett syndrome
-
Kitt, C.A. and Wilcox, B.J. (1995) Preliminary evidence for neurodegenerative changes in the substantia nigra of Rett syndrome. Neuropediatrics 26, 114-118.
-
(1995)
Neuropediatrics
, vol.26
, pp. 114-118
-
-
Kitt, C.A.1
Wilcox, B.J.2
-
67
-
-
33750807254
-
Neurobiology of Rett Syndrome, A Disorder of Synaptic Development
-
A lecture presented at the. June 16-18, Ostersund, Sweden
-
Johnston, M. (2003) Neurobiology of Rett Syndrome, A Disorder of Synaptic Development. A lecture presented at the international course on Rett syndrome. June 16-18, Ostersund, Sweden.
-
(2003)
International Course on Rett Syndrome
-
-
Johnston, M.1
-
68
-
-
27144448737
-
MeCP2 expression and function during brain development: Implications for Rett syndrome's pathogenesis and clinical evolution
-
Kaufmann, W.E., Johnston, M.V., and Blue, M.E. (2005) MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution. Brain Dev. 27(Suppl 1), S77-S87.
-
(2005)
Brain Dev.
, vol.27
, Issue.SUPPL. 1
-
-
Kaufmann, W.E.1
Johnston, M.V.2
Blue, M.E.3
-
69
-
-
0242300612
-
DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation
-
Martinowich, K., Hattori, D., Wu, H., Fouse, S., He, F., Hu, Y., Fan, G., and Sun, Y.E. (2003) DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science 302(5646), 890-893.
-
(2003)
Science
, vol.302
, Issue.5646
, pp. 890-893
-
-
Martinowich, K.1
Hattori, D.2
Wu, H.3
Fouse, S.4
He, F.5
Hu, Y.6
Fan, G.7
Sun, Y.E.8
-
70
-
-
0242332183
-
Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2
-
Chen, W.G., Chang, Q., Lin, Y., Meissner, A., West, A.E., Griffith, E.C., Jaenisch, R., and Greenberg, M.E. (2003) Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2. Science 302(5646), 885-889.
-
(2003)
Science
, vol.302
, Issue.5646
, 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
-
71
-
-
0003921408
-
-
International Rett Syndrome Association, Washington, D.C.
-
Hunter, K. (1999) The Rett Syndrome Handbook. International Rett Syndrome Association, Washington, D.C.
-
(1999)
The Rett Syndrome Handbook
-
-
Hunter, K.1
-
72
-
-
84878749251
-
-
Accessed October 27, 2006
-
International Rett Syndrome Association web site. Adults with Rett syndrome http://www.rettsyndrome.org/content.asp?contentid=670 Accessed October 27, 2006.
-
Adults with Rett Syndrome
-
-
-
75
-
-
0004059041
-
-
F.A. Davis, Philadelphia
-
Fisher, A.G., Murray, E.A., and Bundy, A.C. (1991) Sensory Integration Theory and Practice. F.A. Davis, Philadelphia.
-
(1991)
Sensory Integration Theory and Practice
-
-
Fisher, A.G.1
Murray, E.A.2
Bundy, A.C.3
-
77
-
-
0035836047
-
Behavioral and emotional features in Rett syndrome
-
Mount, R.H., Hastings, R.P., Reilly, S., Cass, H., and Charman, T. (2001) Behavioral and emotional features in Rett syndrome. Disabil. Rehabil. 23, 129-138.
-
(2001)
Disabil. Rehabil.
, vol.23
, pp. 129-138
-
-
Mount, R.H.1
Hastings, R.P.2
Reilly, S.3
Cass, H.4
Charman, T.5
-
78
-
-
0026078956
-
EEG and respiration in Rett syndrome
-
Elian, M. and Rudolf, N.D. (1991) EEG and respiration in Rett syndrome. Acta Neurol. Scand. 83, 123-128.
-
(1991)
Acta Neurol. Scand.
, vol.83
, pp. 123-128
-
-
Elian, M.1
Rudolf, N.D.2
-
79
-
-
0035409467
-
Characterization of breathing and associated central autonomic dysfunction in the Rett disorder
-
Julu, P.O., Kerr, A.M., Apartopoulos, F., Al-Rawas, S., Witt Engerström, I., Engerström. L., Gamal, A.J., and Hansen, S. (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
Al-Rawas, S.4
Witt Engerström, I.5
Engerström, L.6
Gamal, A.J.7
Hansen, S.8
-
81
-
-
4344616939
-
Physical fitness and functional ability of children with intellectual disability: Effects of a short-term daily treadmill intervention
-
Lotan, M., Isakov, E., Kessel, S., and Merrick, J. (2004) Physical fitness and functional ability of children with intellectual disability: effects of a short-term daily treadmill intervention. TheScientificWorldJOURNAL 4, 449-457.
-
(2004)
TheScientificWorldJOURNAL
, vol.4
, pp. 449-457
-
-
Lotan, M.1
Isakov, E.2
Kessel, S.3
Merrick, J.4
-
82
-
-
8344223793
-
Improving functional skills and physical fitness in children with Rett syndrome
-
Lotan, M., Isakov, E., and Merrick, J. (2004) Improving functional skills and physical fitness in children with Rett syndrome. J. Intellect. Disabil. Res. 48(8), 730-735.
-
(2004)
J. Intellect. Disabil. Res.
, vol.48
, Issue.8
, pp. 730-735
-
-
Lotan, M.1
Isakov, E.2
Merrick, J.3
-
83
-
-
33845494050
-
Lessons from Rett Syndrome and the MECP2 Gene as a Model for a Neuro-Developmental Disorder
-
December 9, Sheba Hospital, Ramat-Gan, Israel. [Hebrew]
-
Ben-Zeev, B. (2004) Lessons from Rett Syndrome and the MECP2 Gene as a Model for a Neuro-Developmental Disorder. Annual Conference for Rare Diseases, December 9, Sheba Hospital, Ramat-Gan, Israel. [Hebrew]
-
(2004)
Annual Conference for Rare Diseases
-
-
Ben-Zeev, B.1
-
84
-
-
0025270017
-
Motor disabilities in the Rett syndrome and physical therapy strategies
-
Hanks, S.B. (1990) Motor disabilities in the Rett syndrome and physical therapy strategies. Brain Dev. 12, 157-161.
-
(1990)
Brain Dev.
, vol.12
, pp. 157-161
-
-
Hanks, S.B.1
-
85
-
-
33750819185
-
Physical Therapy Strategies
-
Paper presented at the, May 24-27, Boston, MA. Tape 622-08
-
Hanks, S.B. (1996) Physical Therapy Strategies. Paper presented at the IRSA 12th Annual Conference, May 24-27, Boston, MA. Tape 622-08.
-
(1996)
IRSA 12th Annual Conference
-
-
Hanks, S.B.1
-
86
-
-
33750801377
-
Why Physical Therapy?
-
Hanks, S.B. (2001) Why Physical Therapy? Rett Gazette 1-2, 6-8.
-
(2001)
Rett Gazette
, vol.1-2
, pp. 6-8
-
-
Hanks, S.B.1
-
88
-
-
0027124529
-
Oral manifestation of Rett's syndrome
-
Peak, J., Eveson, J.W., and Scully, C. (1992) Oral manifestation of Rett's syndrome. Br. Dent. J. 172, 248-249.
-
(1992)
Br. Dent. J.
, vol.172
, pp. 248-249
-
-
Peak, J.1
Eveson, J.W.2
Scully, C.3
-
89
-
-
0009959899
-
Speechless yet communicative: Revealing the person behind the disability of Rett syndrome through clinical research on songs in music therapy
-
Aldridge, D., di Franco, G., Ruud, E., and Wigram, T., Eds. ISMEZ, Rome
-
Elefant, C. (2001) Speechless yet communicative: revealing the person behind the disability of Rett syndrome through clinical research on songs in music therapy. In Music Therapy in Europe. Aldridge, D., di Franco, G., Ruud, E., and Wigram, T., Eds. ISMEZ, Rome.
-
(2001)
Music Therapy in Europe
-
-
Elefant, C.1
-
90
-
-
33845485464
-
Music, Choice Making and Communication in Rett Syndrome
-
A lecture presented at the. June 16-18, Ostersund, Sweden
-
Elefant, C. (2003) Music, Choice Making and Communication in Rett Syndrome. A lecture presented at the international course on Rett syndrome. June 16-18, Ostersund, Sweden.
-
(2003)
International Course on Rett Syndrome
-
-
Elefant, C.1
-
91
-
-
27144498559
-
Learning ability in children with Rett syndrome
-
Elefant, C., and Wigram, T. (2005) Learning ability in children with Rett syndrome. Brain Dev. 27(Suppl 1), S97-S101.
-
(2005)
Brain Dev.
, vol.27
, Issue.SUPPL. 1
-
-
Elefant, C.1
Wigram, T.2
-
92
-
-
0035836013
-
Storybook-based communication intervention for girls with Rett syndrome and their mothers
-
Koppenhaver, D., Erickson, K.A., Harris, B., McLellan, J., Skotko, B.G., and Newton, R.A. (2001) Storybook-based communication intervention for girls with Rett syndrome and their mothers. Disabil. Rehabil. 23(3/4), 149-159.
-
(2001)
Disabil. Rehabil.
, vol.23
, Issue.3-4
, pp. 149-159
-
-
Koppenhaver, D.1
Erickson, K.A.2
Harris, B.3
McLellan, J.4
Skotko, B.G.5
Newton, R.A.6
-
93
-
-
0009958902
-
Educational implications of Rett syndrome
-
Sigafoos, J. and Woodyatt, G. (1996) Educational implications of Rett syndrome. Eur. J. Ment. Disabil. 3(11), 19-28.
-
(1996)
Eur. J. Ment. Disabil.
, vol.3
, Issue.11
, pp. 19-28
-
-
Sigafoos, J.1
Woodyatt, G.2
-
94
-
-
0034411517
-
Assessment of potential communication acts in three individuals with Rett syndrome
-
Sigafoos, J., Woodyatt, G., Tucker, M., Roberts-Pennell, D., and Pittendreigh, N. (1999) Assessment of potential communication acts in three individuals with Rett syndrome. J. Dev. Phys. Disabil. 12(3), 203-216.
-
(1999)
J. Dev. Phys. Disabil.
, vol.12
, Issue.3
, pp. 203-216
-
-
Sigafoos, J.1
Woodyatt, G.2
Tucker, M.3
Roberts-Pennell, D.4
Pittendreigh, N.5
-
95
-
-
0002341077
-
Communication development and aberrant behavior in children with developmental disabilities
-
Sigafoos, J. (2000) Communication development and aberrant behavior in children with developmental disabilities. Educ. Train. Ment. Retard. Dev. Disabil. 35(2), 168-176.
-
(2000)
Educ. Train. Ment. Retard. Dev. Disabil.
, vol.35
, Issue.2
, pp. 168-176
-
-
Sigafoos, J.1
-
96
-
-
84992803023
-
Identifying potential communicative acts in children with developmental and physical disabilities
-
Sigafoos, J., Woodyatt, G., Keen, D., Tait, K., Tucker, M., Roberts-Pennell, D., and Pittendreigh, N. (2000) Identifying potential communicative acts in children with developmental and physical disabilities. Commun. Disord. Q. 21(2), 77-86.
-
(2000)
Commun. Disord. Q
, vol.21
, Issue.2
, pp. 77-86
-
-
Sigafoos, J.1
Woodyatt, G.2
Keen, D.3
Tait, K.4
Tucker, M.5
Roberts-Pennell, D.6
Pittendreigh, N.7
-
99
-
-
0031456733
-
Rett syndrome: Habilitation and management reviewed
-
Budden, S.S. (1997) Rett syndrome: habilitation and management reviewed. Eur. Child Adolesc. Psychiatry 6(Suppl 1), 103-107.
-
(1997)
Eur. Child Adolesc. Psychiatry
, vol.6
, Issue.SUPPL. 1
, pp. 103-107
-
-
Budden, S.S.1
-
100
-
-
33845475831
-
Epilepsy
-
Paper presented at the, May 24-27, Boston, MA. Tape 622-18
-
Glaze, D. (1996) Epilepsy. Paper presented at the IRSA 12th Annual Conference, May 24-27, Boston, MA. Tape 622-18.
-
(1996)
IRSA 12th Annual Conference
-
-
Glaze, D.1
-
101
-
-
33845486673
-
Emotional/Musical Communication of Children with RS
-
A lecture at an. Sheba Hospital, Ramat-Gan, Israel
-
Elefant, C. (2005) Emotional/Musical Communication of Children with RS. A lecture at an annual conference on RS. Sheba Hospital, Ramat-Gan, Israel.
-
(2005)
Annual Conference on RS
-
-
Elefant, C.1
-
102
-
-
0027538430
-
Emotional and behavioral aspects of Rett syndrome
-
Sansom, D., Krishnen, U.H., Corbett, J., and Kerr, A. (1993) Emotional and behavioral aspects of Rett syndrome. Dev. Med. Child Neurol. 35, 340-345.
-
(1993)
Dev. Med. Child Neurol.
, vol.35
, pp. 340-345
-
-
Sansom, D.1
Krishnen, U.H.2
Corbett, J.3
Kerr, A.4
-
103
-
-
0026765446
-
Age-related occurrence of signs and symptoms in the Rett syndrome
-
Witt-Engerstrom, I. (1992) Age-related occurrence of signs and symptoms in the Rett syndrome. Brain Dev. 14, S11-20.
-
(1992)
Brain Dev.
, vol.14
-
-
Witt-Engerstrom, I.1
-
104
-
-
0031914089
-
Rett syndrome: Characterization of seizures versus non-seizures
-
Glaze, D.G., Schultz, R.J., and Frost, J.D. (1998) Rett syndrome: characterization of seizures versus non-seizures. Electroencephalogr. Clin. Neurophysiol. 106, 79-83.
-
(1998)
Electroencephalogr. Clin. Neurophysiol.
, vol.106
, pp. 79-83
-
-
Glaze, D.G.1
Schultz, R.J.2
Frost, J.D.3
-
105
-
-
0025944395
-
Four adult Rett patients at an institution for the handicapped
-
Yano, S., Yamashita, Y., Matsuishi, T., Abe, T., Yamada, S., and Shnohara, M. (1991) Four adult Rett patients at an institution for the handicapped. Pediatr. Neurol. 7, 186-190.
-
(1991)
Pediatr. Neurol.
, vol.7
, pp. 186-190
-
-
Yano, S.1
Yamashita, Y.2
Matsuishi, T.3
Abe, T.4
Yamada, S.5
Shnohara, M.6
-
106
-
-
0028110924
-
Altered energy balance may account for growth failure in Rett syndrome
-
Motil, K.J., Schultz, R., Brown, B., Glaze, D.G., and Percy, A.K. (1994) Altered energy balance may account for growth failure in Rett syndrome. J. Child Neurol. 9, 315-319.
-
(1994)
J. Child Neurol.
, vol.9
, pp. 315-319
-
-
Motil, K.J.1
Schultz, R.2
Brown, B.3
Glaze, D.G.4
Percy, A.K.5
-
107
-
-
0026712191
-
Growth and nutrition in ten girls with Rett syndrome
-
Thommessen, M., Kase, B.F., and Heiberg, A. (1992) Growth and nutrition in ten girls with Rett syndrome. Acta Pediatr. 81, 686-689.
-
(1992)
Acta Pediatr.
, vol.81
, pp. 686-689
-
-
Thommessen, M.1
Kase, B.F.2
Heiberg, A.3
-
108
-
-
0033512353
-
Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome
-
Motil, K.J., Schultz, R.J., Browning, K., Trautwein, L., and Glaze, D.G. (1999) Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome. J. Pediatr. Gastroenterol. Nutr. 29(1), 31-37.
-
(1999)
J. Pediatr. Gastroenterol. Nutr.
, vol.29
, Issue.1
, pp. 31-37
-
-
Motil, K.J.1
Schultz, R.J.2
Browning, K.3
Trautwein, L.4
Glaze, D.G.5
-
109
-
-
0029062584
-
Management of Rett syndrome: A ten-year experience
-
Budden, S.S. (1995) Management of Rett syndrome: a ten-year experience. Neuropediatrics 26(2), 75-77.
-
(1995)
Neuropediatrics
, vol.26
, Issue.2
, pp. 75-77
-
-
Budden, S.S.1
-
110
-
-
0031892489
-
Increased energy expenditure associated with repetitive involuntary movement does not contribute to growth failure in girls with Rett syndrome
-
Motil, K.J., Schultz, R.J., Wong, W.W., and Glaze, D.G. (1998) Increased energy expenditure associated with repetitive involuntary movement does not contribute to growth failure in girls with Rett syndrome. J. Pediatr. 132(2), 228-233.
-
(1998)
J. Pediatr.
, vol.132
, Issue.2
, pp. 228-233
-
-
Motil, K.J.1
Schultz, R.J.2
Wong, W.W.3
Glaze, D.G.4
-
111
-
-
33845495137
-
Nutrition and Weight Management
-
Paper presented at the, May 24-27, Boston, MA. Tape 622-11
-
Motil, K. (1996) Nutrition and Weight Management. Paper presented at the IRSA 12th Annual Conference, May 24-27, Boston, MA. Tape 622-11.
-
(1996)
IRSA 12th Annual Conference
-
-
Motil, K.1
-
112
-
-
0035835984
-
Growth and nutrition in Rett syndrome
-
Reilly, S. and Cass, H. (2001) Growth and nutrition in Rett syndrome. Disabil. Rehabil. 23, 118-128.
-
(2001)
Disabil. Rehabil.
, vol.23
, pp. 118-128
-
-
Reilly, S.1
Cass, H.2
-
113
-
-
0034088550
-
Preserved speech variant is allelic of classic Rett syndrome
-
De Bona, C., Zappella, M., Hayek, G., Meloni, I., Vitelli, F., Bruttini, M., Cusano, R., Loffredo, P., Longo, I., and Renieri, A. (2000) Preserved speech variant is allelic of classic Rett syndrome. Eur. J. Hum. Genet. 8(5), 325-330.
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, Issue.5
, pp. 325-330
-
-
De Bona, C.1
Zappella, M.2
Hayek, G.3
Meloni, I.4
Vitelli, F.5
Bruttini, M.6
Cusano, R.7
Loffredo, P.8
Longo, I.9
Renieri, A.10
-
114
-
-
0029057467
-
Gross motor disability and head growth in Rett syndrome
-
Stenbom, Y., Engerstron, I.W., and Hagberg, B. (1995) Gross motor disability and head growth in Rett syndrome. Neuropediatrics 26, 85-66.
-
(1995)
Neuropediatrics
, vol.26
, pp. 85-166
-
-
Stenbom, Y.1
Engerstron, I.W.2
Hagberg, B.3
-
115
-
-
33845482257
-
Ways to Resolve Agitation
-
A lecture presented at the, June 16-18, Ostersund, Sweden
-
Bergstrom-Isacsson, M. (2003) Ways to Resolve Agitation. A lecture presented at the international course on Rett syndrome, June 16-18, Ostersund, Sweden.
-
(2003)
International Course on Rett Syndrome
-
-
Bergstrom-Isacsson, M.1
-
116
-
-
85009587831
-
Music and the Rett disorder: The Swedish Rett Center survey
-
Merker, B., Bergstrom-Isacsson, M., and Witt Engerstrom, I. (2001) Music and the Rett disorder: the Swedish Rett Center survey. Nord. J. Music Ther. 10(1), 42-53.
-
(2001)
Nord. J. Music Ther.
, vol.10
, Issue.1
, pp. 42-53
-
-
Merker, B.1
Bergstrom-Isacsson, M.2
Witt Engerstrom, I.3
-
117
-
-
27144509527
-
Assessment and treatment of a girl with Rett syndrome
-
Bruscia, K., Ed. Barcelona Publications
-
Wigram, T. (1991) Assessment and treatment of a girl with Rett syndrome. In Case Studies in Music Therapy. Bruscia, K., Ed. Barcelona Publications.
-
(1991)
Case Studies in Music Therapy
-
-
Wigram, T.1
-
118
-
-
27144525706
-
A model of assessment and differential diagnosis of handicap in children through the medium of music therapy
-
Wigram, T., Saperston, B., and West, R., Eds. Harwood Academic, Chur, Switzerland
-
Wigram, T. (1995) A model of assessment and differential diagnosis of handicap in children through the medium of music therapy. In The Art and Science of Music Therapy: A Handbook. Wigram, T., Saperston, B., and West, R., Eds. Harwood Academic, Chur, Switzerland.
-
(1995)
The Art and Science of Music Therapy: A Handbook
-
-
Wigram, T.1
-
119
-
-
0037405096
-
Prevalence of hearing loss in Rett syndrome
-
Pillion, J.P., Rawool, V.W., Bibat, G., and Naidu, S. (2003) Prevalence of hearing loss in Rett syndrome. Dev. Med. Child Neurol. 45(5), 338-343.
-
(2003)
Dev. Med. Child Neurol.
, vol.45
, Issue.5
, pp. 338-343
-
-
Pillion, J.P.1
Rawool, V.W.2
Bibat, G.3
Naidu, S.4
-
120
-
-
0030734344
-
Osteopenia in Rett syndrome
-
Haas, R.H., Dixon, S.D., Sartoris, D.J., and Hennessy, M.J. (1997) Osteopenia in Rett syndrome. J. Pediatr. 131(5), 771-774.
-
(1997)
J. Pediatr.
, vol.131
, Issue.5
, pp. 771-774
-
-
Haas, R.H.1
Dixon, S.D.2
Sartoris, D.J.3
Hennessy, M.J.4
-
121
-
-
0035201347
-
Bone histomorphometry in three females with Rett syndrome
-
Budden, S.S. and Gunness, M.E. (2001) Bone histomorphometry in three females with Rett syndrome. Brain Dev. 23, S133-S137.
-
(2001)
Brain Dev.
, vol.23
-
-
Budden, S.S.1
Gunness, M.E.2
-
122
-
-
18044398815
-
Dual X-ray absorptiometry and bone ultrasonography in patients with Rett syndrome
-
Cepollaro, C., Gonnelli, S., Bruni, D., Pacini, S., Martini, S., Franci, M.B., Gennari, L., Rossi, S., Hayek, G., Zappella, M., and Gennari, C. (2001) Dual X-ray absorptiometry and bone ultrasonography in patients with Rett syndrome. Calcif. Tissue Int. 69, 259-262.
-
(2001)
Calcif. Tissue Int.
, vol.69
, pp. 259-262
-
-
Cepollaro, C.1
Gonnelli, S.2
Bruni, D.3
Pacini, S.4
Martini, S.5
Franci, M.B.6
Gennari, L.7
Rossi, S.8
Hayek, G.9
Zappella, M.10
Gennari, C.11
-
123
-
-
0022515632
-
A comparative study of the relative influence of different anticonvulsant drugs, UV exposure and diet on vitamin D and calcium metabolism in out-patients with epilepsy
-
Gough, H., Goggin, T., Bissessar, A., Baker, M., Crowley, M., and Callaghan, N. (1986) A comparative study of the relative influence of different anticonvulsant drugs, UV exposure and diet on vitamin D and calcium metabolism in out-patients with epilepsy. Q. J. Med. 59(230), 569-577.
-
(1986)
Q. J. Med.
, vol.59
, Issue.230
, pp. 569-577
-
-
Gough, H.1
Goggin, T.2
Bissessar, A.3
Baker, M.4
Crowley, M.5
Callaghan, N.6
-
124
-
-
33845479449
-
-
A lecture given at Sydney Australia, February
-
Weeks, L. (1997) Rett Syndrome. A lecture given at Sydney Australia, February.
-
(1997)
Rett Syndrome
-
-
Weeks, L.1
-
125
-
-
0041421096
-
Hand preference, extent of laterality, and functional hand use in Rett syndrome
-
Umansky, R., Watson, J.S., Colvin, L., Fyfe, S., Leonard, S., de Klerk, N., and Leonard, H. (2003) Hand preference, extent of laterality, and functional hand use in Rett syndrome. J. Child Neurol. 18(7), 481-487.
-
(2003)
J. Child Neurol.
, vol.18
, Issue.7
, pp. 481-487
-
-
Umansky, R.1
Watson, J.S.2
Colvin, L.3
Fyfe, S.4
Leonard, S.5
De Klerk, N.6
Leonard, H.7
-
126
-
-
0035836030
-
Rett syndrome and aging: A case study
-
Jacobsen, K., Viken, A., and Von Tetchner, S. (2001) Rett syndrome and aging: a case study. Disabil. Rehabil. 23(3/4), 160-166.
-
(2001)
Disabil. Rehabil.
, vol.23
, Issue.3-4
, pp. 160-166
-
-
Jacobsen, K.1
Viken, A.2
Von Tetchner, S.3
-
127
-
-
0027435227
-
Teaching self-feeding skills to patients with Rett syndrome
-
Piazza, C.C., Nederson, C., and Fisher, W. (1993) Teaching self-feeding skills to patients with Rett syndrome. Dev. Med. Child Neurol. 35, 991-996.
-
(1993)
Dev. Med. Child Neurol.
, vol.35
, pp. 991-996
-
-
Piazza, C.C.1
Nederson, C.2
Fisher, W.3
-
128
-
-
0031443353
-
The preserved speech variant of the Rett complex: A report of 8 cases
-
Zappella, M. (1997) The preserved speech variant of the Rett complex: a report of 8 cases. Eur. Child Adolesc. Psychiatry 6(Suppl 1), 23-25.
-
(1997)
Eur. Child Adolesc. Psychiatry
, vol.6
, Issue.SUPPL. 1
, pp. 23-25
-
-
Zappella, M.1
-
129
-
-
84878763064
-
-
Accessed October 27, 2006
-
International Rett Syndrome Association web site. Life Expectancy in Rett Syndrome: http://www.rettsyndrome.org/content.asp?contentid=158 Accessed October 27, 2006.
-
Life Expectancy in Rett Syndrome
-
-
-
130
-
-
0032956073
-
Recent insights into hyperventilation from the study of Rett syndrome
-
Kerr, A.M. and Julu, P.O. (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
-
131
-
-
0028235383
-
Eelectrocardiographic findings in Rett syndrome: An explanation for sudden death?
-
Sekul, E.A., Moak, J.P., Schultz, R.J., Glaze, D.G., Dunn, J.K., and Percy, A.K. (1994) Eelectrocardiographic findings in Rett syndrome: an explanation for sudden death? J. Pediatr. 125, 80-82.
-
(1994)
J. Pediatr.
, vol.125
, pp. 80-82
-
-
Sekul, E.A.1
Moak, J.P.2
Schultz, R.J.3
Glaze, D.G.4
Dunn, J.K.5
Percy, A.K.6
-
132
-
-
0032764776
-
Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death
-
Guideri, F., Acampa, M., Hayek, G., Zappella, M., and Di Perri, T. (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, G.3
Zappella, M.4
Di Perri, T.5
-
133
-
-
0032885518
-
SUDEP: Overview of definitions and review of incidence data
-
Annegers, J.F. and Coan, S.P. (1999) SUDEP: overview of definitions and review of incidence data. Seizure 8(6), 347-352.
-
(1999)
Seizure
, vol.8
, Issue.6
, pp. 347-352
-
-
Annegers, J.F.1
Coan, S.P.2
-
134
-
-
33644634991
-
Forensic issues and possible mechanisms of sudden death in Rett syndrome
-
Byard, R.W. (2006) Forensic issues and possible mechanisms of sudden death in Rett syndrome. J. Clin. Forensic Med. 13(2), 96-99.
-
(2006)
J. Clin. Forensic Med.
, vol.13
, Issue.2
, pp. 96-99
-
-
Byard, R.W.1
-
135
-
-
0029765109
-
Observations on hand movement in Rett syndrome: A pilot study
-
Elian, M. and de M. Rudolf, N. (1996) Observations on hand movement in Rett syndrome: a pilot study. Acta Neurol. Scand. 94, 212-214.
-
(1996)
Acta Neurol. Scand.
, vol.94
, pp. 212-214
-
-
Elian, M.1
De M Rudolf, N.2
-
136
-
-
33645227011
-
Scoliosis management in Rett syndrome: A case study
-
Lotan, M., Merrick, J., and Carmeli, E. (2005) Scoliosis management in Rett syndrome: a case study. TheScientificWorldJOURNAL 5, 264-273.
-
(2005)
TheScientificWorldJOURNAL
, vol.5
, pp. 264-273
-
-
Lotan, M.1
Merrick, J.2
Carmeli, E.3
-
137
-
-
33845476488
-
Physiotherapy and music therapy for a girl with Rett syndrome - A dual treatment approach
-
Lotan, M. and Elefant, C. (2006) Physiotherapy and music therapy for a girl with Rett syndrome - a dual treatment approach. Fysioterapeuten 13(2), 15-20.
-
(2006)
Fysioterapeuten
, vol.13
, Issue.2
, pp. 15-20
-
-
Lotan, M.1
Elefant, C.2
-
139
-
-
0032013067
-
The relationship of cumulative motor asymmetries to scoliosis in Rett syndrome
-
McClure, M.K., Battaglia, C., and McClure, R.J. (1998) The relationship of cumulative motor asymmetries to scoliosis in Rett syndrome. Am. J. Occup. Ther. 52, 196-204.
-
(1998)
Am. J. Occup. Ther.
, vol.52
, pp. 196-204
-
-
McClure, M.K.1
Battaglia, C.2
McClure, R.J.3
-
140
-
-
0028593366
-
Scoliosis in Rett syndrome
-
Haung, T.S., Lubicky, S.P., and Hammerberg, K.W. (1994) Scoliosis in Rett syndrome. Orthoped. Rev. 23, 931-937.
-
(1994)
Orthoped. Rev.
, vol.23
, pp. 931-937
-
-
Haung, T.S.1
Lubicky, S.P.2
Hammerberg, K.W.3
-
141
-
-
33750813072
-
Orthopedic update in Rett syndrome
-
Spring, 4-5
-
Sponseller, P. (2001) Orthopedic update in Rett syndrome. Rett Gazette. Spring, 1, 4-5.
-
(2001)
Rett Gazette
, pp. 1
-
-
Sponseller, P.1
-
142
-
-
33750813072
-
Orthopaedic Update in Rett Syndrome
-
Spring, 4,5
-
Sponseller, P. (2001) Orthopaedic Update in Rett Syndrome. Rett Gazette, Spring, 1,4,5.
-
(2001)
Rett Gazette
, pp. 1
-
-
Sponseller, P.1
-
143
-
-
0025266725
-
Evoked potentials in the Rett syndrome
-
Kalmanchey, R. (1990) Evoked potentials in the Rett syndrome. Brain Dev. 12(1), 73-76.
-
(1990)
Brain Dev.
, vol.12
, Issue.1
, pp. 73-76
-
-
Kalmanchey, R.1
-
144
-
-
0025361526
-
The Rett syndrome: Gross motor disability and neural impairment in adults
-
Witt-Engerstrom, I. and Hagberg, B. (1990) The Rett syndrome: gross motor disability and neural impairment in adults. Brain Dev. 12(1), 23-26.
-
(1990)
Brain Dev.
, vol.12
, Issue.1
, pp. 23-26
-
-
Witt-Engerstrom, I.1
Hagberg, B.2
-
145
-
-
0025268914
-
Cerebrospinal fluid studies in Rett syndrome: Biogenic amines and B-endorphins
-
Budden, S.S., Myer, E.D., and Butler, I.J. (1990) Cerebrospinal fluid studies in Rett syndrome: biogenic amines and B-endorphins. Brain Dev. 12(1), 81-84.
-
(1990)
Brain Dev.
, vol.12
, Issue.1
, pp. 81-84
-
-
Budden, S.S.1
Myer, E.D.2
Butler, I.J.3
-
146
-
-
0001937850
-
The neuropathology of the Rett disorder
-
Kerr, A.M. and Witt-Engerstrom, I., Eds. Oxford University Press, Oxford
-
Armstrong, D.D. and Kinney, H. (2001) The neuropathology of the Rett disorder. In Rett Disorder and the Developing Brain. Kerr, A.M. and Witt-Engerstrom, I., Eds. Oxford University Press, Oxford. pp. 57-84.
-
(2001)
Rett Disorder and the Developing Brain
, pp. 57-84
-
-
Armstrong, D.D.1
Kinney, H.2
-
147
-
-
84970296951
-
Preliminary assessment of choice making among children with Rett syndrome
-
Sigafoos, J., Laurie, S., and Pennell, D. (1995) Preliminary assessment of choice making among children with Rett syndrome. J. Assoc. Pers. Severe Handicaps 20, 175-184.
-
(1995)
J. Assoc. Pers. Severe Handicaps
, vol.20
, pp. 175-184
-
-
Sigafoos, J.1
Laurie, S.2
Pennell, D.3
-
148
-
-
0030171491
-
Teaching children with Rett syndrome to request preferred objects using aided communication: Two preliminary studies
-
Sigafoos, J., Laurie, S., and Pennell, D. (1996) Teaching children with Rett syndrome to request preferred objects using aided communication: two preliminary studies. Augment. Altern. Commun. 12, 88-96.
-
(1996)
Augment. Altern. Commun.
, vol.12
, pp. 88-96
-
-
Sigafoos, J.1
Laurie, S.2
Pennell, D.3
-
149
-
-
0026645826
-
Communication abilities and Rett syndrome
-
Woodyatt, G. and Ozanne, A. (1992) Communication abilities and Rett syndrome. J. Autism Dev. Disord. 22, 155-173.
-
(1992)
J. Autism Dev. Disord.
, vol.22
, pp. 155-173
-
-
Woodyatt, G.1
Ozanne, A.2
-
150
-
-
0028150873
-
Intentionality and communication in four children with Rett syndrome
-
Woodyatt, G. and Ozanne, A. (1994) Intentionality and communication in four children with Rett syndrome. Aust. N. Z. J. Dev. Disabil. 19, 173-183.
-
(1994)
Aust. N. Z. J. Dev. Disabil.
, vol.19
, pp. 173-183
-
-
Woodyatt, G.1
Ozanne, A.2
-
151
-
-
27144519861
-
Management of young children with Rett syndrome in the multi-sensory environment
-
Lotan, M. and Shapiro, M. (2005) Management of young children with Rett syndrome in the multi-sensory environment. Brain Dev. 27(Suppl 1), S88-S94.
-
(2005)
Brain Dev.
, vol.27
, Issue.SUPPL. 1
-
-
Lotan, M.1
Shapiro, M.2
-
152
-
-
0041843793
-
Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome
-
Ronnett, G.V., Leopold, D., Cai, X., Hoffbuhr, K.C., Moses, L., Hoffman, E.P., and Naidu, S. (2003) Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome. Ann. Neurol. 54(2), 206-218.
-
(2003)
Ann. Neurol.
, vol.54
, Issue.2
, 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
-
153
-
-
0021998471
-
Rett syndrome: Initial experience with an emerging clinical entity
-
Percy, A.K., Zoghbi, H., and Riccardi, V.M. (1985) Rett syndrome: initial experience with an emerging clinical entity. Brain Dev. 7(3), 300-304.
-
(1985)
Brain Dev.
, vol.7
, Issue.3
, pp. 300-304
-
-
Percy, A.K.1
Zoghbi, H.2
Riccardi, V.M.3
-
154
-
-
0024507967
-
Neurophysiological findings in the Rett syndrome. II. Visual and auditory brainstem, middle and late evoked responses
-
Bader, G.G., Witt-Engerstrom, I., and Hagberg, B. (1989) Neurophysiological findings in the Rett syndrome. II. Visual and auditory brainstem, middle and late evoked responses. Brain Dev. 11(2), 110-114.
-
(1989)
Brain Dev.
, vol.11
, Issue.2
, pp. 110-114
-
-
Bader, G.G.1
Witt-Engerstrom, I.2
Hagberg, B.3
-
155
-
-
0024564182
-
Neurophysiological findings in the Rett syndrome. I. EMG, conduction velocity, EEG and somatosensory-evoked potential
-
Bader, G.G., Witt-Engerstrom, I., and Hagberg, B. (1989) Neurophysiological findings in the Rett syndrome. I. EMG, conduction velocity, EEG and somatosensory-evoked potential. Brain Dev. 11(2), 102-109.
-
(1989)
Brain Dev.
, vol.11
, Issue.2
, pp. 102-109
-
-
Bader, G.G.1
Witt-Engerstrom, I.2
Hagberg, B.3
-
156
-
-
0029052197
-
Visual function in Rett syndrome
-
Saunders, K.J., McCulloch, D.L., and Kerr, A.M. (1995) Visual function in Rett syndrome. Dev. Med. Child Neurol. 37, 496-504.
-
(1995)
Dev. Med. Child Neurol.
, vol.37
, pp. 496-504
-
-
Saunders, K.J.1
McCulloch, D.L.2
Kerr, A.M.3
-
157
-
-
0031914434
-
Sleep dysfunction in Rett syndrome: A trial of exogenous melatonin treatment
-
McArthur, A.J. and Budden, S.S. (1998) Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment. Dev. Med. Child Neurol. 40, 186-192.
-
(1998)
Dev. Med. Child Neurol.
, vol.40
, pp. 186-192
-
-
McArthur, A.J.1
Budden, S.S.2
-
158
-
-
33845483647
-
Sleep in Relation to Other Behaviors in Rett Syndrome
-
A lecture presented at the, June 16-18,Ostersund, Sweden
-
Nomura, Y. (2003) Sleep in Relation to Other Behaviors in Rett Syndrome. A lecture presented at the international course on Rett syndrome, June 16-18,Ostersund, Sweden.
-
(2003)
International Course on Rett Syndrome
-
-
Nomura, Y.1
-
159
-
-
27144489959
-
Early behavior characteristics and sleep disturbance in Rett syndrome
-
Nomura, Y. (2005) Early behavior characteristics and sleep disturbance in Rett syndrome. Brain Dev. 27(Suppl 1), S35-S42.
-
(2005)
Brain Dev.
, vol.27
, Issue.SUPPL. 1
-
-
Nomura, Y.1
-
160
-
-
0025633787
-
Aberrant sleep patterns in children with Rett syndrome
-
Piazza, C.C., Fisher, W., Kiesewetter, B.S., Bowman, L., and Moser, H. (1990) Aberrant sleep patterns in children with Rett syndrome. Brain Dev. 2, 488-493.
-
(1990)
Brain Dev.
, vol.2
, pp. 488-493
-
-
Piazza, C.C.1
Fisher, W.2
Kiesewetter, B.S.3
Bowman, L.4
Moser, H.5
-
161
-
-
0025994733
-
Behavioral treatment of sleep dysfunction in patients with Rett syndrome
-
Piazza, C.C., Fisher, W., and Moser, H. (1991) Behavioral treatment of sleep dysfunction in patients with Rett syndrome. Brain Dev. 13, 232-237.
-
(1991)
Brain Dev.
, vol.13
, pp. 232-237
-
-
Piazza, C.C.1
Fisher, W.2
Moser, H.3
-
162
-
-
33845490809
-
Intervention and Assessment of Hand Behavior
-
Paper presented at the, May 24-27, Boston, MA. Tape 622-07
-
Weiss, M. (1996) Intervention and Assessment of Hand Behavior. Paper presented at the IRSA 12th Annual Conference, May 24-27, Boston, MA. Tape 622-07.
-
(1996)
IRSA 12th Annual Conference
-
-
Weiss, M.1
-
163
-
-
0026747147
-
Motor symptoms of the Rett syndrome: Abnormal muscle tone, posture, locomotion and stereotyped movement
-
Nomura, Y. and Segawa, M. (1992) Motor symptoms of the Rett syndrome: abnormal muscle tone, posture, locomotion and stereotyped movement. Brain Dev. 14(Suppl), S21-28.
-
(1992)
Brain Dev.
, vol.14
, Issue.SUPPL.
-
-
Nomura, Y.1
Segawa, M.2
-
164
-
-
0035200455
-
Neurobiology and neurochemistry of Rett syndrome
-
Matsuishi, T., Yamashita, Y., and Kusaga, A. (2001) Neurobiology and neurochemistry of Rett syndrome. Brain Dev. 23(Suppl 1), S58-61.
-
(2001)
Brain Dev.
, vol.23
, Issue.SUPPL. 1
-
-
Matsuishi, T.1
Yamashita, Y.2
Kusaga, A.3
-
165
-
-
0037404490
-
Findings from a multidisciplinary clinical case series of females with Rett syndrome
-
Cass, H., Reilly, S., Owen, L., Wisbeach, A., Weekes, L., Slonims, V., Wigram, T., and Charman, T. (2003) Findings from a multidisciplinary clinical case series of females with Rett syndrome. Dev. Med. Child Neurol. 45(5), 325-337.
-
(2003)
Dev. Med. Child Neurol.
, vol.45
, Issue.5
, pp. 325-337
-
-
Cass, H.1
Reilly, S.2
Owen, L.3
Wisbeach, A.4
Weekes, L.5
Slonims, V.6
Wigram, T.7
Charman, T.8
-
166
-
-
33845487524
-
The Rett Syndrome Evaluation Center in Israel. A Play Based Assessment Model
-
A poster presented at the, Dead Sea, Israel, March
-
Lotan, M., Wein, J., Elefant, C., Sharf, A., and Yoshei, Y. (2005) The Rett Syndrome Evaluation Center in Israel. A Play Based Assessment Model. A poster presented at the annual Israeli Physical Therapy Association Conference, Dead Sea, Israel, March.
-
(2005)
Annual Israeli Physical Therapy Association Conference
-
-
Lotan, M.1
Wein, J.2
Elefant, C.3
Sharf, A.4
Yoshei, Y.5
-
167
-
-
0033013097
-
Rett syndrome: Randomized controlled trial of L-carnitine
-
Ellaway, C., Williams, K., Leonard, H., Higgins, G., Wilcken, B., and Christodoulou, J. (1999) Rett syndrome: randomized controlled trial of L-carnitine. J. Child Neurol. 14, 162-167.
-
(1999)
J. Child Neurol.
, vol.14
, pp. 162-167
-
-
Ellaway, C.1
Williams, K.2
Leonard, H.3
Higgins, G.4
Wilcken, B.5
Christodoulou, J.6
-
168
-
-
0028327513
-
Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone
-
Percy, A.K., Glaze, D.G., Schultz, R.J., Zoghbi, H.Y., Williamson, D., Frost, J.D., Jr., Jankovic, J.J., del Junco, D., Skender, M., and Waring, S. (1994) Rett syndrome: controlled study of an oral opiate antagonist, naltrexone. Ann. Neurol. 35, 464-70.
-
(1994)
Ann. Neurol.
, vol.35
, pp. 464-470
-
-
Percy, A.K.1
Glaze, D.G.2
Schultz, R.J.3
Zoghbi, H.Y.4
Williamson, D.5
Frost Jr., J.D.6
Jankovic, J.J.7
Del Junco, D.8
Skender, M.9
Waring, S.10
-
169
-
-
16644370679
-
Risperidone in the treatment of disruptive behavioral symptoms in children with autistic and other pervasive developmental disorders
-
Shea, S., Turgay, A., Carroll, A., Schulz, M., Orlik, H., Smith, I., and Dunbar, F. (2003) Risperidone in the treatment of disruptive behavioral symptoms in children with autistic and other pervasive developmental disorders. Pediatrics 114(5), 634-641.
-
(2003)
Pediatrics
, vol.114
, Issue.5
, pp. 634-641
-
-
Shea, S.1
Turgay, A.2
Carroll, A.3
Schulz, M.4
Orlik, H.5
Smith, I.6
Dunbar, F.7
-
170
-
-
0034658015
-
Impact of Parkinson's disease and its pharmacologic treatment on quality of life and economic outcomes
-
Scheife, R.T., Schumock, G.T., Burstein, A., Gottwald, M.D., and Luer, M.S. (2000) Impact of Parkinson's disease and its pharmacologic treatment on quality of life and economic outcomes. Am. J. Health Syst. Pharm. 57(10), 953-962.
-
(2000)
Am. J. Health Syst. Pharm.
, vol.57
, Issue.10
, pp. 953-962
-
-
Scheife, R.T.1
Schumock, G.T.2
Burstein, A.3
Gottwald, M.D.4
Luer, M.S.5
-
171
-
-
0026756450
-
Magnesium for hyperventilation in Rett's syndrome
-
Egger, J., Hofacker, N., Schiel, W., and Holthausen, H. (1992) Magnesium for hyperventilation in Rett's syndrome. Lancet 340, 621-622.
-
(1992)
Lancet
, vol.340
, pp. 621-622
-
-
Egger, J.1
Hofacker, N.2
Schiel, W.3
Holthausen, H.4
-
172
-
-
10744222971
-
Reduced folate transport to the CNS in female Rett patients
-
Ramaekers, V.T., Hansen, S.I., Holm, J., Opladen, T., Senderek, J., Hausler, M., Heimann, G., Fowler, B., Maiwald, R., and Blau, N. (2003) Reduced folate transport to the CNS in female Rett patients. Neurology 61(4), 506-515.
-
(2003)
Neurology
, vol.61
, Issue.4
, 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
-
173
-
-
21144454723
-
Spinal fluid 5- methyltetrahydro-folate levels are normal in Rett syndrome
-
Neul, J.L., Maricich, S.M., Islam, M., Barrish, J., Smith, E.O., Bottiglieri, T., Hyland, K., Humphreys, P., Percy, A., and Glaze, D. (2005) Spinal fluid 5- methyltetrahydro-folate levels are normal in Rett syndrome. Neurology 64(12), 2151-2152.
-
(2005)
Neurology
, vol.64
, Issue.12
, pp. 2151-2152
-
-
Neul, J.L.1
Maricich, S.M.2
Islam, M.3
Barrish, J.4
Smith, E.O.5
Bottiglieri, T.6
Hyland, K.7
Humphreys, P.8
Percy, A.9
Glaze, D.10
-
174
-
-
33745466540
-
Lithium and antidepressants: Potential agents for the treatment of Rett syndrome
-
Tsai, S.J. (2006) Lithium and antidepressants: potential agents for the treatment of Rett syndrome. Med. Hypotheses 67(3), 626-629.
-
(2006)
Med. Hypotheses
, vol.67
, Issue.3
, pp. 626-629
-
-
Tsai, S.J.1
-
175
-
-
0032894370
-
Prolonged QT interval in Rett syndrome
-
Ellaway, C.J., Sholler, G., Leonard, H., and Christodoulou, J. (1999) Prolonged QT interval in Rett syndrome. Arch. Dis. Child. 80, 470-472.
-
(1999)
Arch. Dis. Child.
, vol.80
, pp. 470-472
-
-
Ellaway, C.J.1
Sholler, G.2
Leonard, H.3
Christodoulou, J.4
-
176
-
-
13244262974
-
Rett syndrome: Clinical review and genetic update
-
Weaving, L.S., Ellaway, C.J., Gécz, J., and Christodoulou, J. (2005) Rett syndrome: clinical review and genetic update. Med. Genet. 42, 1-7.
-
(2005)
Med. Genet.
, vol.42
, pp. 1-7
-
-
Weaving, L.S.1
Ellaway, C.J.2
Gécz, J.3
Christodoulou, J.4
-
177
-
-
3142667817
-
Rett syndrome management with Snoezelen or controlled multi-sensory environment. A review
-
Lotan, M. and Merrick, J. (2004) Rett syndrome management with Snoezelen or controlled multi-sensory environment. A review. Int. J. Adolesc. Med. Health 16(1), 5-12.
-
(2004)
Int. J. Adolesc. Med. Health
, vol.16
, Issue.1
, pp. 5-12
-
-
Lotan, M.1
Merrick, J.2
-
178
-
-
33845501840
-
What to look for in a sensory integration evaluation, especially when complex issues are involved
-
Spring
-
Schmidt, J. (2003) What to look for in a sensory integration evaluation, especially when complex issues are involved. Rett Gazette Spring 2-4.
-
(2003)
Rett Gazette
, pp. 2-4
-
-
Schmidt, J.1
-
179
-
-
33845512718
-
Using Computers to Promote Communication and Adaptive Hand Use in Girls with Rett Syndrome
-
Paper presented at the, May 24-27, Boston, MA
-
Van Acker, R. (1996) Using Computers to Promote Communication and Adaptive Hand Use in Girls with Rett Syndrome. Paper presented at the IRSA 12th Annual Conference, May 24-27, Boston, MA.
-
(1996)
IRSA 12th Annual Conference
-
-
Van Acker, R.1
-
180
-
-
0031458769
-
Evoking communication in Rett syndrome: Comparisons with conversations and games in mother-infant interaction
-
Burford, B. and Trevarthen, C. (1997) Evoking communication in Rett syndrome: comparisons with conversations and games in mother-infant interaction. Eur. Child Adolesc. Psychiatr. 6(Suppl. 1), 1-5.
-
(1997)
Eur. Child Adolesc. Psychiatr.
, vol.6
, Issue.SUPPL. 1
, pp. 1-5
-
-
Burford, B.1
Trevarthen, C.2
-
182
-
-
85009576522
-
Rett syndrome: Dual intervention - Music and physical therapy
-
Elefant, C. and Lotan, M. (2004) Rett syndrome: dual intervention - music and physical therapy. Nord. J. Music Ther. 13(2), 172-182.
-
(2004)
Nord. J. Music Ther.
, vol.13
, Issue.2
, pp. 172-182
-
-
Elefant, C.1
Lotan, M.2
-
183
-
-
27144560409
-
The relevance and value of music therapy for children with Rett syndrome
-
Hill, S.A. (1997) The relevance and value of music therapy for children with Rett syndrome. Br. J. Spec. Educ. 24(3), 124-128.
-
(1997)
Br. J. Spec. Educ.
, vol.24
, Issue.3
, pp. 124-128
-
-
Hill, S.A.1
-
184
-
-
33750815741
-
Music Therapy Within the Assessment Process for a Therapy Clinic for People with Rett Syndrome
-
Paper presented at the
-
Wigram, T. and Cass, H. (1996) Music Therapy Within the Assessment Process for a Therapy Clinic for People with Rett Syndrome. Paper presented at the Rett Syndrome World Conference in Sweden.
-
(1996)
Rett Syndrome World Conference in Sweden
-
-
Wigram, T.1
Cass, H.2
-
185
-
-
0022496734
-
Music therapy for children with Rett syndrome
-
Wesecky, A. (1986) Music therapy for children with Rett syndrome. Am. J. Hum. Genet. 24(Suppl 1), 253-257.
-
(1986)
Am. J. Hum. Genet.
, vol.24
, Issue.SUPPL. 1
, pp. 253-257
-
-
Wesecky, A.1
-
188
-
-
4444323779
-
Rett syndrome: A challenge for music therapists
-
Hadsell, N.A. and Coleman, K.A. (1988) Rett syndrome: a challenge for music therapists. Music Ther. Perspect. 5, 52-55.
-
(1988)
Music Ther. Perspect.
, vol.5
, pp. 52-55
-
-
Hadsell, N.A.1
Coleman, K.A.2
-
190
-
-
33845492393
-
Aquatic rehabilitation for individuals with Rett syndrome
-
Lotan, M. and Hadar-Frumer, M. (2004) Aquatic rehabilitation for individuals with Rett syndrome. Aquat. Phys. Ther. 12(1), 6-16.
-
(2004)
Aquat. Phys. Ther.
, vol.12
, Issue.1
, pp. 6-16
-
-
Lotan, M.1
Hadar-Frumer, M.2
-
191
-
-
34250747390
-
Physical Therapy and Gross Motor Skills in Rett Syndrome
-
A handout received at the, Washington, D.C.
-
Beuchel, K. (2001) Physical Therapy and Gross Motor Skills in Rett Syndrome. A handout received at the IRSA Annual Conference, Washington, D.C.
-
(2001)
IRSA Annual Conference
-
-
Beuchel, K.1
-
192
-
-
33750796190
-
Hippotherapy: Never heard of it
-
Winter
-
Graffman, K. (2002) Hippotherapy: never heard of it. Rett Gazette Winter 3-5.
-
(2002)
Rett Gazette
, pp. 3-5
-
-
Graffman, K.1
|