-
1
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2
-
DOI 10.1038/13810
-
Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY: Rett syndrome is caused by mutations in X-linked MECP2 , encoding methyl-CpG-binding protein 2. Nat Genet 23: 185-188 (1999 (Pubitemid 29455390)
-
(1999)
Nature Genetics
, vol.23
, Issue.2
, 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
-
-
33847267187
-
Correlation between clinical severity in patients with rett syndrome with p.R168X or p.T158M MECP2 mutation and the direction and degree of skewing of Xchromosome inactivation
-
Archer H, Evans J, Leonard H, Colvin L, Ravine D, et al: Correlation between clinical severity in patients with Rett syndrome with p.R168X or p.T158M MECP2 mutation and the direction and degree of skewing of Xchromosome inactivation. J Med Genet 44: 148-52 (2007.
-
(2007)
J. Med. Genet.
, vol.44
, pp. 148-152
-
-
Archer, H.1
Evans, J.2
Leonard, H.3
Colvin, L.4
Ravine, D.5
-
4
-
-
0003880745
-
The neuropathology of the rett disorder
-
in Kerr A Witt- Engerström I eds The Neuropathology of the Rett Disorder Oxford University Press Oxford
-
Armstrong DD, Kinney HC: The neuropathology of the Rett disorder, in Kerr A, Witt- Engerström I (eds): Rett Disorder and the Developing Brain. The Neuropathology of the Rett Disorder, pp 57-84 (Oxford University Press, Oxford 2001
-
(2001)
Rett Disorder and the Developing Brain
, pp. 57-84
-
-
Armstrong, D.D.1
Kinney, H.C.2
-
5
-
-
0031761177
-
Decreased dendritic branching in frontal, motor and limbic cortex in Rett Syndrome compared with Trisomy 21
-
Armstrong DD, Dunn JK, Antalffy B: Decreased dendritic branching in frontal, motor, limbic cortex in Rett syndrome compared with trisomy 21. J Neuropathol Exp Neurol 57: 1013-1017 (1998 (Pubitemid 28525447)
-
(1998)
Journal of Neuropathology and Experimental Neurology
, vol.57
, Issue.11
, pp. 1013-1017
-
-
Armstrong, D.D.1
Dunn, K.2
Antalffy, B.3
-
6
-
-
77951561039
-
Updating the profile of C-terminal MECP2 deletions in Rett syndrome
-
Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, et al: Updating the profile of C-terminal MECP2 deletions in Rett syndrome. J Med Genet 47: 242-248 (2010
-
(2010)
J. Med. Genet.
, vol.47
, pp. 242-248
-
-
Bebbington, A.1
Percy, A.2
Christodoulou, J.3
Ravine, D.4
Ho, G.5
-
7
-
-
0035129277
-
A detailed analysis of the MECP2 gene: Prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients
-
DOI 10.1007/s004390000422
-
Bourdon V, Philippe C, Labrune O, Amsallem D, Arnould C, Jonveaux P: A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross rearrangements in Rett syndrome patients. Hum Genet 108: 43-50 (2001 (Pubitemid 32140541)
-
(2001)
Human Genetics
, vol.108
, Issue.1
, pp. 43-50
-
-
Bourdon, V.1
Philippe, C.2
Labrune, O.3
Amsallem, D.4
Arnould, C.5
Jonveaux, P.6
-
8
-
-
22344441631
-
Methyl CpG-binding proteins induce large-scale chromatin reorganization during terminal differentiation
-
DOI 10.1083/jcb.200502062
-
Brero A, Easwaran HP, Nowak D, Grunewald I, Cremer T, et al: Methyl CpG-binding proteins induce large-scale chromatin reorganization during terminal differentiation. J Cell Biol 169: 733-743 (2005 (Pubitemid 41002879)
-
(2005)
Journal of Cell Biology
, vol.169
, Issue.5
, pp. 733-743
-
-
Brero, A.1
Easwaran, H.P.2
Nowak, D.3
Grunewald, I.4
Cremer, T.5
Leonhardt, H.6
Cardoso, M.C.7
-
9
-
-
35648978121
-
The Story of Rett Syndrome: From Clinic to Neurobiology
-
DOI 10.1016/j.neuron.2007.10.001, PII S0896627307007568
-
Chahrour M, Zoghbi HY: The story of Rett syndrome: from clinic to neurobiology. Neuron 56: 422-437 (2007 (Pubitemid 350026269)
-
(2007)
Neuron
, vol.56
, Issue.3
, pp. 422-437
-
-
Chahrour, M.1
Zoghbi, H.Y.2
-
10
-
-
0033152745
-
The methyl-CpG-binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA
-
Chandler SP, Guschin D, Landsberger N, Wolffe AP: The methyl-CpG-binding transcriptional repressor MeCP2 stably associates with nucleosomal DNA. Biochemistry 38: 7008-7018 (1999
-
(1999)
Biochemistry
, vol.38
, pp. 7008-7018
-
-
Chandler, S.P.1
Guschin, D.2
Landsberger, N.3
Wolffe, A.P.4
-
11
-
-
31444434393
-
The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression
-
DOI 10.1016/j.neuron.2005.12.027, PII S0896627306000109
-
Chang Q, Khare G, Dani V, Nelson S, Jaenisch R: The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Neuron 2006, 49, 341-348 (Pubitemid 43152236)
-
(2006)
Neuron
, vol.49
, Issue.3
, pp. 341-348
-
-
Chang, Q.1
Khare, G.2
Dani, V.3
Nelson, S.4
Jaenisch, R.5
-
12
-
-
0242332183
-
Derepression of BDNF transcription involves calcium-dependent phosphorylation of MECP2
-
Chen W, Chang Q, Lin Y, Meissner A, West A, et al: Derepression of BDNF transcription involves calcium-dependent phosphorylation of MECP2. Science 302: 885 (2003
-
(2003)
Science
, vol.302
, pp. 885
-
-
Chen, W.1
Chang, Q.2
Lin, Y.3
Meissner, A.4
West, A.5
-
13
-
-
44449140370
-
Methyl-CpG binding proteins: Specialized transcriptional repressors or structural components of chromatin
-
Clouaire T, Stancheva I: Methyl-CpG binding proteins: specialized transcriptional repressors or structural components of chromatin? Cell Mol Life Sci 65: 1509-1522 (2008
-
(2008)
Cell. Mol. Life Sci.
, vol.65
, pp. 1509-1522
-
-
Clouaire, T.1
Stancheva, I.2
-
14
-
-
8444253290
-
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
-
DOI 10.1093/hmg/ddh282
-
Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, et al: Mild overexpression of MeCP2 causes a progressive neurological disorder in mice. Hum Mol Genet 13: 2679-2689 (2004 (Pubitemid 39485416)
-
(2004)
Human Molecular Genetics
, vol.13
, Issue.21
, pp. 2679-2689
-
-
Collins, A.L.1
Levenson, J.M.2
Vilaythong, A.P.3
Richman, R.4
Armstrong, D.L.5
Noebels, J.L.6
Sweatt, J.D.7
Zoghbi, H.Y.8
-
15
-
-
70350349099
-
Angelman syndrome: Current understanding and research prospects
-
Dan B: Angelman syndrome: current understanding and research prospects. Epilepsia 50: 2331-2339 (2009
-
(2009)
Epilepsia
, vol.50
, pp. 2331-2339
-
-
Dan, B.1
-
16
-
-
70249144074
-
Postural control in children with rett syndrome or angelman syndrome
-
in Hadders-Algra M Brogren Carlberg E eds Mac Keith Press London
-
Dan B, Cheron B: Postural control in children with Rett syndrome or Angelman syndrome; in Hadders-Algra M, Brogren Carlberg E(eds): Posture: A Key Issue in Developmental Disorders, pp 148-169 (Mac Keith Press, London 2008
-
(2008)
Posture: A. Key Issue in Developmental Disorders
, pp. 148-169
-
-
Dan, B.1
Cheron, B.2
-
17
-
-
0029765109
-
Observations on hand movements in Rett syndrome: A pilot study
-
Elian M, de M Rudolf N: Observations on hand movements in Rett syndrome: a pilot study. Acta Neurol Scand 94: 212-214 (1996 (Pubitemid 26330361)
-
(1996)
Acta Neurologica Scandinavica
, vol.94
, Issue.3
, pp. 212-214
-
-
Elian, M.1
Rudolf, N.D.M.2
-
18
-
-
0035836010
-
Rett syndrome: Clinical characteristics and recent genetic advances
-
DOI 10.1080/09638280150504171
-
Ellaway C, Christodoulou J: Rett syndrome: clinical characteristics and recent genetic advances. Disabil Rehabil 23: 98-106 (2001 (Pubitemid 32218950)
-
(2001)
Disability and Rehabilitation
, vol.23
, Issue.3-4
, pp. 98-106
-
-
Ellaway, C.1
Christodoulou, J.2
-
19
-
-
80051716594
-
Trends in the diagnosis of rett syndrome in australia
-
Fehr S, Bebbington A, Nassar N, Downs J, Ronen GM, et al: Trends in the diagnosis of Rett syndrome in Australia. Pediatr Res 70: 313-319 (2011
-
(2011)
Pediatr. Res.
, vol.70
, pp. 313-319
-
-
Fehr, S.1
Bebbington, A.2
Nassar, N.3
Downs, J.4
Ronen, G.M.5
-
20
-
-
77956477922
-
Survival with rett syndrome: Comparing retts original sample with data from the australian rett syndrome database
-
Freilinger M, Bebbington A, Lanator I, De Klerk N, Dunkler D, et al: Survival with Rett syndrome: comparing Rett's original sample with data from the Australian Rett Syndrome Database. Dev Med Child Neurol 52: 962-965 (2010
-
(2010)
Dev. Med. Child. Neurol.
, vol.52
, pp. 962-965
-
-
Freilinger, M.1
Bebbington, A.2
Lanator, I.3
De Klerk, N.4
Dunkler, D.5
-
21
-
-
2542458430
-
When enough is enough: Genetic diseases associated with transcriptional derepression
-
DOI 10.1016/j.gde.2004.04.010, PII S0959437X04000565
-
Gabellini D, Green MR, Tupler R: When enough is enough: genetic diseases associated with transcriptional derepression. Curr Opin Genet Dev 14: 301-307 (2004 (Pubitemid 38686936)
-
(2004)
Current Opinion in Genetics and Development
, vol.14
, Issue.3
, pp. 301-307
-
-
Gabellini, D.1
Green, M.R.2
Tupler, R.3
-
22
-
-
78650056304
-
From stem cells to neural networks: Recent advances and perspectives for neurodevelopmental disorders
-
Gaspard N, Vanderhaeghen P: From stem cells to neural networks: recent advances and perspectives for neurodevelopmental disorders. Dev Med Child Neurol 53: 13-17 (2011
-
(2011)
Dev. Med. Child. Neurol.
, vol.53
, pp. 13-17
-
-
Gaspard, N.1
Vanderhaeghen, P.2
-
23
-
-
0035080490
-
Parental origin of de novo MECP2 mutations in Rett syndrome
-
DOI 10.1038/sj.ejhg.5200618
-
Girard M, Couvert P, Carrie A, Tardieu M, Chelly J, et al: Parental origin of de novo MECP2 mutations in Rett syndrome. Eur J Hum Genet 9: 231-236 (2001 (Pubitemid 32241774)
-
(2001)
European Journal of Human Genetics
, vol.9
, Issue.3
, pp. 231-236
-
-
Girard, M.1
Couvert, P.2
Carrie, A.3
Tardieu, M.4
Chelly, J.5
Beldjord, C.6
Bienvenu, T.7
-
24
-
-
65549112583
-
A study of the treatment of rett syndrome with folate and betaine
-
Glaze DG, Percy AK, Motil KJ, Lane JB, Isaacs JS, et al: A study of the treatment of Rett syndrome with folate and betaine. J Child Neurol 24: 551-556 (2009
-
(2009)
J. Child Neurol.
, vol.24
, pp. 551-556
-
-
Glaze, D.G.1
Percy, A.K.2
Motil, K.J.3
Lane, J.B.4
Isaacs, J.S.5
-
25
-
-
33847266846
-
Reversal of neurological defects in a mouse model of Rett syndrome
-
DOI 10.1126/science.1138389
-
Guy J, Gan J, Selfridge J, Cobb S, Bird A: Reversal of neurological defects in a mouse model of Rett syndrome. Science 315: 1143-1147 (2007 (Pubitemid 46328028)
-
(2007)
Science
, vol.315
, Issue.5815
, pp. 1143-1147
-
-
Guy, J.1
Gan, J.2
Selfridge, J.3
Cobb, S.4
Bird, A.5
-
27
-
-
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, Aicardi J, Dias K, Ramos O: A progressive syndrome of autism, dementia, ataxia and loss of purposeful handuse in girls: Rett's syndrome: report of 35 cases. Ann Neurol 14: 471-479 (1983 (Pubitemid 13010048)
-
(1983)
Annals of Neurology
, vol.14
, Issue.4
, pp. 471-479
-
-
Hagberg, B.1
Aicardi, J.2
Dias, K.3
Ramos, O.4
-
30
-
-
84856212881
-
Genotype-phenotype relationships as prognosticators in rett syndrome should be handled with care in clinical practice
-
Halbach N, Smeets E, van den Braak N, van Roozendaal K, Blok R, et al: Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice. Am J Med Genet A 158A:340-350 (2012
-
(2012)
Am. J. Med. Genet. A.
, vol.A
, pp. 340-350
-
-
Halbach, N.1
Smeets, E.2
Van Den Braak, N.3
Van Roozendaal, K.4
Blok, R.5
-
31
-
-
0034701904
-
Rett syndrome: Analysis of MECP2 and clinical characterization of 31 patients
-
Huppke P, Laccone F, Kramer N, Engel W, Hanefeld F: Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 9: 1369-1375 (2000 (Pubitemid 30312485)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.9
, pp. 1369-1375
-
-
Huppke, P.1
Laccone, F.2
Kramer, N.3
Engel, W.4
Hanefeld, F.5
-
32
-
-
0035192429
-
The role of different X-inactivation pattern on the variable clinical phenotype with rett syndrome
-
Ishii T, Makita Y, Ogawa A, Amamiya S, Yamamoto M, et al: The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome. Brain Dev 23 (suppl 1):S161-S164 (2001
-
(2001)
Brain Dev.
, vol.23
, Issue.1
-
-
Ishii, T.1
Makita, Y.2
Ogawa, A.3
Amamiya, S.4
Yamamoto, M.5
-
33
-
-
0000656342
-
A new syndrome of progressive psychomotor retardation with peculiar stereotyped movements and autistic tendency: A report of three cases
-
Ishikawa A, Goto T, Narasaki M, Yokochi K, Kitahara H, Fukuyama Y: A new syndrome of progressive psychomotor retardation with peculiar stereotyped movements and autistic tendency: a report of three cases. Brain Dev 3: 258 (1978
-
(1978)
Brain Dev.
, vol.3
, pp. 258
-
-
Ishikawa, A.1
Goto, T.2
Narasaki, M.3
Yokochi, K.4
Kitahara, H.5
Fukuyama, Y.6
-
34
-
-
43049099355
-
Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice
-
DOI 10.1093/hmg/ddn026
-
Jugloff DG, Vandamme K, Logan R Visanji NP, Brotchie JM, Eubanks JH: Targeted delivery of a Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2 -deficient mice. Hum Mol Genet 17: 1386-1396 (2008 (Pubitemid 351627335)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.10
, pp. 1386-1396
-
-
Jugloff, D.G.M.1
Vandamme, K.2
Logan, R.3
Visanji, N.P.4
Brotchie, J.M.5
Eubanks, J.H.6
-
35
-
-
27144461978
-
Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome
-
DOI 10.1016/j.braindev.2005.02.012, PII S0387760405001385
-
Julu PO, Witt Engerström I: Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome. Brain Dev 27 (suppl 1):S43-S53 (2005 (Pubitemid 41501609)
-
(2005)
Brain and Development
, vol.27
, Issue.SUPPL. 1
-
-
Julu, P.O.O.1
Witt Engerstrom, I.2
-
36
-
-
0035409467
-
Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder
-
Julu PO, Kerr AM, Apartopoulos F, Al-Rawas S, Witt-Engerström I, et al: Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder. Arch Dis Child 85: 29-37 (2001
-
(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
-
37
-
-
44949214686
-
Clinical update addressing the cardiorespiratory challenges in medicine posed by rett syndrome: The frösö declaration
-
Julu PO, Witt Engerström I, Hansen S, Apartopoulos F, Witt B, et al: Clinical update addressing the cardiorespiratory challenges in medicine posed by Rett syndrome: The Frösö Declaration. Lancet 371: 1981-1983 (2008
-
(2008)
Lancet
, vol.371
, pp. 1981-1983
-
-
Julu, P.O.1
Witt Engerström, I.2
Hansen, S.3
Apartopoulos, F.4
Witt, B.5
-
38
-
-
69249232208
-
Breathing disorders in rett syndrome: Progressive neurochemical dysfunction in the respiratory network after birth
-
Katz DM, Dutschmann M, Ramirez JM, Hilaire G: Breathing disorders in Rett syndrome: progressive neurochemical dysfunction in the respiratory network after birth. Respir Physiol Neurobiol 168: 101-108 (2009
-
(2009)
Respir Physiol. Neurobiol.
, vol.168
, pp. 101-108
-
-
Katz, D.M.1
Dutschmann, M.2
Ramirez, J.M.3
Hilaire, G.4
-
39
-
-
22244478317
-
Histone modifications in Rett syndrome lymphocytes: A preliminary evaluation
-
DOI 10.1016/j.braindev.2004.09.005, PII S0387760404001779, Chromosomal Aberration and Epileptic Syndrome, Part 2
-
Kaufmann WE, Jarrar MH, Wang JS, Lee YJ, Reddy S, et al: Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation. Brain Dev 27: 331-339 (2005 (Pubitemid 40991752)
-
(2005)
Brain and Development
, vol.27
, Issue.5
, pp. 331-339
-
-
Kaufmann, W.E.1
Jarrar, M.H.2
Wang, J.S.3
Lee, Y.-J.M.4
Reddy, S.5
Bibat, G.6
Naidu, S.7
-
40
-
-
0002676072
-
Rett syndrome british longitudinal study 1982-1990 and 1990 survey
-
in Roosendaal JJ ed Kerckbosch Publisher Zeist
-
Kerr AM: Rett syndrome British longitudinal study (1982-1990) and 1990 survey; in Roosendaal JJ (ed): Mental Retardation and Medical Care, pp 143-145 (Kerckbosch Publisher, Zeist 1992
-
(1992)
Mental Retardation and Medical Care
, pp. 143-145
-
-
Kerr, A.M.1
-
42
-
-
0035880454
-
Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry
-
LaSalle JM, Goldstine J, Balmer D, Greco CM: Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry. Hum Mol Genet 10: 1729-1740 (2001 (Pubitemid 32899090)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.17
, pp. 1729-1740
-
-
LaSalle, J.M.1
Goldstine, J.2
Balmer, D.3
Greco, C.M.4
-
43
-
-
42149098005
-
The use of botulinum toxin in head and face medicine: An interdisciplinary field
-
Laskawi R: The use of botulinum toxin in head and face medicine: an interdisciplinary field. Head Face Med 10: 4-5 (2008
-
(2008)
Head. Face. Med.
, vol.10
, pp. 4-5
-
-
Laskawi, R.1
-
44
-
-
0034969850
-
Occurrence of Rett syndrome in boys
-
Leonard H, Silberstein J, Falk R, Houwink-Manville I, Ellaway C, et al: Occurrence of Rett syndrome in boys. J Child Neurol 16: 333-338 (2001 (Pubitemid 32547297)
-
(2001)
Journal of Child Neurology
, vol.16
, Issue.5
, 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
-
45
-
-
79953741776
-
Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: Insights into rett syndrome
-
Lioy DT, Wu WW, Bissonnette JM: Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: insights into Rett syndrome. Auton Neurosci 161: 55-62 (2011
-
(2011)
Auton. Neurosci.
, vol.161
, pp. 55-62
-
-
Lioy, D.T.1
Wu, W.W.2
Bissonnette, J.M.3
-
46
-
-
0024379177
-
Aminoglycoside suppression at UAG, UAA and UGA codons in Escherichia coli and human tissue culture cells
-
Martin R, Mogg AE, Heywood LA, Nitschke L, Burke JF: Aminoglycoside suppression at UAG, UAA and UGA codons in Escherichia coli and human tissue culture cells. Mol Gen Genet 217: 411-418 (1989 (Pubitemid 19165012)
-
(1989)
Molecular and General Genetics
, vol.217
, Issue.2-3
, pp. 411-418
-
-
Martin, R.1
Mogg, A.E.2
Heywood, L.A.3
Nitschke, L.4
Burke, J.F.5
-
47
-
-
0242300612
-
DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation
-
Martinowich K, Hattori D, Wu H, Fouse S, He F, et al: DNA methylation-related chromatin remodeling in activity-dependent BDNF gene regulation. Science 302: 890 (2003
-
(2003)
Science
, vol.302
, pp. 890
-
-
Martinowich, K.1
Hattori, D.2
Wu, H.3
Fouse, S.4
He, F.5
-
48
-
-
0037215780
-
Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP 2)
-
DOI 10.1016/S1090-3798(02)00134-4
-
Moog U, Smeets E, van Roozendaal K, Schoenmakers S, Herbergs J, et al: Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2) . Eur J Paediatr Neurol 7: 5-12 (2003 (Pubitemid 36284838)
-
(2003)
European Journal of Paediatric Neurology
, vol.7
, Issue.1
, pp. 5-12
-
-
Moog, U.1
Smeets, E.E.J.2
Van Roozendaal, K.E.P.3
Schoenmakers, S.4
Herbergs, J.5
Schoonbrood-Lenssen, A.M.J.6
Schrander-Stumpel, C.T.R.M.7
-
49
-
-
0033512353
-
Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome
-
DOI 10.1097/00005176-199907000-00010
-
Motil KJ, Schultz RJ, Browning K, Trautwein L, Glaze DG: Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr 29: 31-37 (1999 (Pubitemid 30345824)
-
(1999)
Journal of Pediatric Gastroenterology and Nutrition
, 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
-
50
-
-
0032574977
-
Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex
-
DOI 10.1038/30764
-
Nan X, Ng HH, Johnson CA, Laherty CD, Tur - ner BM, et al: Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex. Nature 393: 386-389 (1998 (Pubitemid 28269714)
-
(1998)
Nature
, vol.393
, Issue.6683
, pp. 386-389
-
-
Nan, X.1
Ng, H.-H.2
Johnson, C.A.3
Laherty, C.D.4
Turner, B.M.5
Eisenman, R.N.6
Bird, A.7
-
51
-
-
45949096771
-
The p.Val66Met polymorphism in the BDNF gene protects against early seizures in rett syndrome
-
22 Pt 2
-
Nectoux J, Bahi-Buisson N, Guellec I, Coste J, De Roux N, et al: The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. Neurology 70(22 Pt 2):2145-2151 (2008
-
(2008)
Neurology.
, vol.70
, pp. 2145-2151
-
-
Nectoux, J.1
Bahi-Buisson, N.2
Guellec, I.3
Coste, J.4
De Roux, N.5
-
52
-
-
78650903501
-
Rett syndrome: Revised diagnostic criteria and nomenclature
-
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, et al: Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 68: 944-950 (2010
-
(2010)
Ann. Neurol.
, vol.68
, pp. 944-950
-
-
Neul, J.L.1
Kaufmann, W.E.2
Glaze, D.G.3
Christodoulou, J.4
Clarke, A.J.5
-
53
-
-
77954494457
-
Epilepsy in rett syndrome-The experience of a national rett center
-
Nissenkorn A, Gak E, Vecksler M, Reznik H, Menascu S, Ben Zeev B: Epilepsy in Rett syndrome - the experience of a National Rett Center. Epilepsia 51: 1252-1258 (2010
-
(2010)
Epilepsia
, vol.51
, pp. 1252-1258
-
-
Nissenkorn, A.1
Gak, E.2
Vecksler, M.3
Reznik, H.4
Menascu, S.5
Ben Zeev, B.6
-
54
-
-
0026747147
-
Motor symptoms of the rett syndrome: Abnormal muscle tone posture locomotion and stereotyped movement
-
suppl
-
Nomura Y, Segawa M: Motor symptoms of the Rett syndrome: abnormal muscle tone, posture, locomotion and stereotyped movement. Brain Dev 14 (suppl):S21-S28 (1992
-
(1992)
Brain Dev.
, vol.14
-
-
Nomura, Y.1
Segawa, M.2
-
55
-
-
0021929479
-
Rett syndrome - An early catecholamine and indolamine deficient disorder?
-
Nomura Y, Segawa M, Higurashi M: Rett syndrome - an early catecholamine and indolamine deficient disorder? Brain Dev 7: 334-341 (1985 (Pubitemid 15239583)
-
(1985)
Brain and Development
, vol.7
, Issue.3
, pp. 334-341
-
-
Nomura, Y.1
Segawa, M.2
Higurashi, M.3
-
56
-
-
35148840586
-
Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome
-
DOI 10.1523/JNEUROSCI.1869-07.2007
-
Ogier M, Wang H, Hong E, Wang Q, Greenberg ME, Katz DM: Brain-derived neurotrophic factor expression and respiratory function improve after ampakine treatment in a mouse model of Rett syndrome. J Neurosci 27: 10912-10917 (2007 (Pubitemid 47535875)
-
(2007)
Journal of Neuroscience
, vol.27
, Issue.40
, pp. 10912-10917
-
-
Ogier, M.1
Wang, H.2
Hong, E.3
Wang, Q.4
Greenberg, M.E.5
Katz, D.M.6
-
57
-
-
70249097309
-
Postural cortical myoclonus during gait in rett syndrome
-
Pelc K, Dan B: Postural cortical myoclonus during gait in Rett syndrome. Epilepsy Behav 16: 188 (2009
-
(2009)
Epilepsy. Behav.
, vol.16
, pp. 188
-
-
Pelc, K.1
Dan, B.2
-
58
-
-
32244440647
-
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: A molecular update
-
DOI 10.1016/j.ejmg.2005.04.003, PII S1769721205000728
-
Philippe C, Villard L, De Roux N, Raynaud M, Bonnefond JP, et al: Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. Eur J Med Genet 49: 9-18 (2006 (Pubitemid 43213195)
-
(2006)
European Journal of Medical Genetics
, vol.49
, Issue.1
, pp. 9-18
-
-
Philippe, C.1
Villard, L.2
De Roux, N.3
Raynaud, M.4
Bonnefond, J.P.5
Pasquier, L.6
Lesca, G.7
Mancini, J.8
Jonveaux, P.9
Moncla, A.10
Chelly, J.11
Bienvenu, T.12
-
60
-
-
0038127131
-
Rett syndrome: The complex nature of a monogenic disease
-
Renieri A, Meloni I, Longo I, Ariani F, Mari F, et al: Rett syndrome: the complex nature of a monogenic disease. J Mol Med 81: 346-354 (2003 (Pubitemid 36783238)
-
(2003)
Journal of Molecular Medicine
, vol.81
, Issue.6
, pp. 346-354
-
-
Renieri, A.1
Meloni, I.2
Longo, I.3
Ariani, F.4
Mari, F.5
Pescucci, C.6
Cambi, F.7
-
61
-
-
0014011176
-
Ber ein eigenartiges hirnatrophisches syndrom bei hyperammonämie im Kindesalter
-
Rett A: Über ein eigenartiges hirnatrophisches Syndrom bei Hyperammonämie im Kindesalter. Wien Med Wochenschr 116: 723-728 (1966
-
(1966)
Wien. Med. Wochenschr
, vol.116
, pp. 723-728
-
-
Rett A.Ü1
-
62
-
-
0001388820
-
Cerebral atrophy associated with hyperammonaemia
-
in vinklen PJ Bruyn GW eds North Holland publishing company Amsterdam
-
Rett A: Cerebral Atrophy associated with hyperammonaemia, in Vinklen PJ, Bruyn GW (eds): Handbook of Clinical Neurology, vol. 29, pp 305-329 (North Holland publishing company, Amsterdam 1977
-
(1977)
Handbook of Clinical Neurology
, vol.29
, pp. 305-329
-
-
Rett, A.1
-
63
-
-
35348868814
-
Disturbances in Cardiorespiratory Function During Day and Night in Rett Syndrome
-
DOI 10.1016/j.pediatrneurol.2007.06.009, PII S0887899407003062
-
Rohdin M, Fernell E, Eriksson M, Albåge M, Lagercrantz H, Katz-Salamon M: Disturbances in cardiorespiratory function during day and night in Rett syndrome. Pediatr Neurol 37: 338-344 (2007 (Pubitemid 47575825)
-
(2007)
Pediatric Neurology
, vol.37
, Issue.5
, pp. 338-344
-
-
Rohdin, M.1
Fernell, E.2
Eriksson, M.3
Albage, M.4
Lagercrantz, H.5
Katz-Salamon, M.6
-
64
-
-
44849101156
-
A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome
-
DOI 10.1093/hmg/ddn062
-
Samaco RC, Fryer JD, Ren J, Fyffe S, Chao HT, et al: A partial loss of function allele of methyl- CpG-binding protein predicts a human neurodevelopmental syndrome. Hum Mol Genet 17: 1718-1727 (2008 (Pubitemid 351791498)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.12
, pp. 1718-1727
-
-
Samaco, R.C.1
Fryer, J.D.2
Ren, J.3
Fyffe, S.4
Chao, H.-T.5
Sun, Y.6
Greer, J.J.7
Zoghbi, H.Y.8
Neul, J.L.9
-
65
-
-
0030876388
-
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map
-
Schanen NC, Dahle EJ, Capozzoli F, Holm VA, Zoghbi HY, Francke U: A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. Am J Hum Genet 61: 634-641 (1997 (Pubitemid 27418405)
-
(1997)
American Journal of Human Genetics
, vol.61
, Issue.3
, pp. 634-641
-
-
Schanen, N.C.1
Dahle, E.J.R.2
Capozzoli, F.3
Holm, V.A.4
Zoghbi, H.Y.5
Francke, U.6
-
66
-
-
0042905824
-
Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome
-
DOI 10.1002/humu.10242
-
Schollen E, Smeets E, Deflem E, Fryns JP, Matthijs G: Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: implications for routine diagnosis of Rett syndrome. Hum Mut 22: 116-120 (2003 (Pubitemid 36950808)
-
(2003)
Human Mutation
, vol.22
, Issue.2
, pp. 116-120
-
-
Schollen, E.1
Smeets, E.2
Deflem, E.3
Fryns, J.P.4
Matthijs, G.5
-
67
-
-
0031978042
-
Hand and foot growth failure in Rett syndrome
-
Schultz R, Glaze D, Motil K, Hebert D, Percy A: Hand and foot growth failure in Rett syndrome. J Child Neurol 13: 71-74 (1998 (Pubitemid 28155113)
-
(1998)
Journal of Child Neurology
, vol.13
, Issue.2
, pp. 71-74
-
-
Schultz, R.1
Glaze, D.2
Motil, K.3
Hebert, D.4
Percy, A.5
-
68
-
-
0037130455
-
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3
-
DOI 10.1016/S0896-6273(02)00768-7
-
Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, et al: Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35: 243-254 (2002 (Pubitemid 34876728)
-
(2002)
Neuron
, vol.35
, Issue.2
, pp. 243-254
-
-
Shahbazian, M.D.1
Young, J.I.2
Yuva-Paylor, L.A.3
Spencer, C.M.4
Antalffy, B.A.5
Noebels, J.L.6
Armstrong, D.L.7
Paylor, R.8
Zoghbi, H.Y.9
-
69
-
-
84860158987
-
Rett syndrome
-
in Cassidy S Allanson J eds 3rd ed John Wiley & Sons Inc. Hoboken NJ
-
Smeets EE, Schrander-Stumpel CT: Rett Syndrome, in Cassidy S, Allanson J (eds): Management of Genetic Syndromes, 3rd ed, pp 677-691 (John Wiley & Sons Inc., Hoboken, NJ 2010
-
(2010)
Management of Genetic Syndromes
, pp. 677-691
-
-
Smeets, E.E.1
Schrander-Stumpel, C.T.2
-
70
-
-
0042893900
-
Rett syndrome in adolescent and adult females: Clinical and molecular genetic findings
-
Smeets E, Schollen E, Moog U, Matthijs G, Herbergs J, et al: Rett Syndrome in adolescent and adult females: clinical and molecular genetic findings. Am J Med Gen 122A:227-233 (2003 (Pubitemid 37152868)
-
(2003)
American Journal of Medical Genetics
, vol.A
, Issue.3
, pp. 227-233
-
-
Smeets, E.1
Schollen, E.2
Moog, U.3
Matthijs, G.4
Herbergs, J.5
Smeets, H.6
Curfs, L.7
Schrander-Stumpel, C.8
Fryns, J.P.9
-
71
-
-
19944427298
-
Rett syndrome in females with CTS hot spot deletions: A disorder profile
-
DOI 10.1002/ajmg.a.30410
-
Smeets E, Terhal P, Casaer P, Peters A, Midro A, et al: Rett syndrome in females with CTS hot spot deletions: a disorder profile. Am J Med Genet A 132A:117-120 (2005 (Pubitemid 40093317)
-
(2005)
American Journal of Medical Genetics
, vol.A
, Issue.2
, pp. 117-120
-
-
Smeets, E.1
Terhal, P.2
Casaer, P.3
Peters, A.4
Midro, A.5
Schollen, E.6
Van Roozendaal, K.7
Moog, U.8
Matthijs, G.9
Herbergs, J.10
Smeets, H.11
Curfs, L.12
Schrander-Stumpel, C.13
Fryns, J.P.14
-
72
-
-
33749251447
-
Management of a severe forceful breather with Rett Syndrome using carbogen
-
DOI 10.1016/j.braindev.2006.04.010, PII S0387760406001136
-
Smeets E, Julu P, van Waardenburg D, Engerström I, Hansen S, et al: Management of a severe forceful breather with Rett syndrome using carbogen. Brain Dev 28: 625-632 (2006 (Pubitemid 44485955)
-
(2006)
Brain and Development
, vol.28
, Issue.10
, pp. 625-632
-
-
Smeets, E.E.J.1
Julu, P.O.O.2
Van Waardenburg, D.3
Engerstrom, I.W.4
Hansen, S.5
Apartopoulos, F.6
Curfs, L.M.G.7
Schrander-Stumpel, C.T.R.M.8
-
73
-
-
59849090408
-
Rett syndrome and long-term disorder profile
-
Smeets EE, Chenault M, Curfs LM, Schrander- Stumpel CT, Frijns JP: Rett syndrome and long-term disorder profile. Am J Med Genet A 149A:199-205 (2009
-
(2009)
Am. J. Med. Genet. A.
, vol.A
, pp. 199-205
-
-
Smeets, E.E.1
Chenault, M.2
Curfs, L.M.3
Schrander- Stumpel, C.T.4
Frijns, J.P.5
-
75
-
-
8844252981
-
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
-
DOI 10.1086/426460
-
Tao J, Van Esch H, Hagedorn-Greiwe M, Hoffmann K, Moser B, et al: Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 75: 1149-1154 (2004 (Pubitemid 39532084)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.6
, pp. 1149-1154
-
-
Tao, J.1
Van Esch, H.2
Hagedorn-Greiwe, M.3
Hoffmann, K.4
Moser, B.5
Raynaud, M.6
Sperner, J.7
Fryns, J.-P.8
Schwinger, E.9
Gecz, J.10
Ropers, H.-H.11
Kalscheuer, V.M.12
-
76
-
-
60549115413
-
Partial reversal of rett syndrome-like symptoms in MeCP2 mutant mice
-
USA
-
Tropea D, Giacometti E, Wilson NR, Beard C, McCurry C, et al: Partial reversal of Rett syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci USA 106: 2029-2034 (2009
-
(2009)
Proc. Natl. Acad. Sci.
, vol.106
, pp. 2029-2034
-
-
Tropea, D.1
Giacometti, E.2
Wilson, N.R.3
Beard, C.4
McCurry, C.5
-
77
-
-
23944503759
-
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
-
DOI 10.1086/444549
-
Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, et al: Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 77: 442-453 (2005 (Pubitemid 41192650)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.3
, pp. 442-453
-
-
Van Esch, H.1
Bauters, M.2
Ignatius, J.3
Jansen, M.4
Raynaud, M.5
Hollanders, K.6
Lugtenberg, D.7
Bienvenu, T.8
Jensen, L.R.9
Gecz, J.10
Moraine, C.11
Marynen, P.12
Fryns, J.-P.13
Froyen, G.14
-
78
-
-
34447297311
-
MECP2 mutations in males
-
Villard J: MECP2 mutations in males. J Med Genet 44: 417-423 (2007
-
(2007)
J. Med. Genet.
, vol.44
, pp. 417-423
-
-
Villard, J.1
-
79
-
-
0035339188
-
MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome
-
Wan M, Zhao K, Francke U: MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome. Hum Mol Genet 10: 1085-1092 (2001 (Pubitemid 32447786)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.10
, pp. 1085-1092
-
-
Wan, M.1
Zhao, K.2
Lee, S.S.J.3
Francke, U.4
-
80
-
-
33750941251
-
Dysregulation of brain derived neurotrophic factor expression and neurosecretory function in Mecp2 null mice
-
Wang H, Chan SA, Ogier M, Hellard D, Wang Q, et al: Dysregulation of brain derived neurotrophic factor expression and neurosecretory function in Mecp2 null mice. J Neurosci 26: 10911-10915 (2006
-
(2006)
J. Neurosci.
, vol.26
, pp. 10911-10915
-
-
Wang, H.1
Chan, S.A.2
Ogier, M.3
Hellard, D.4
Wang, Q.5
-
81
-
-
33748899822
-
Autonomic nervous system dysregulation: Breathing and heart rate perturbation during wakefulness in young girls with rett syndrome
-
DOI 10.1203/01.pdr.0000238302.84552.d0, PII 0000645020061000000015
-
Weese-Mayer DE, Lieske SP, Boothby CM, Kenny AS, Bennett HL, et al: Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome. Pediatr Res 60: 443-449 (2006 (Pubitemid 44427598)
-
(2006)
Pediatric Research
, vol.60
, Issue.4
, pp. 443-449
-
-
Weese-Mayer, D.E.1
Lieske, S.P.2
Boothby, C.M.3
Kenny, A.S.4
Bennett, H.L.5
Silvestri, J.M.6
Ramirez, J.-M.7
-
83
-
-
0025617299
-
Rett syndrome in sweden neurodevelopment-disability-pathophysiology
-
Witt Engerström I: Rett Syndrome in Sweden. Neurodevelopment - disability - pathophysiology. Acta Paediatr Scand Suppl 369: 1-60 (1990
-
(1990)
Acta. Paediatr Scand. Suppl.
, vol.369
, pp. 1-60
-
-
Witt Engerström, I.1
-
84
-
-
0036778361
-
MECP2 mutations in israel: Implications for molecular analysis genetic counseling and prenatal diagnosis in rett syndrome
-
Yaron Y, Ben Zeev B, Shomrat R, Bercovich D, Naiman T, Orr-Urtreger A: MECP2 mutations in Israel: implications for molecular analysis, genetic counseling and prenatal diagnosis in Rett syndrome. Hum Mutat 20: 323-324 (2002
-
(2002)
Hum. Mutat.
, vol.20
, pp. 323-324
-
-
Yaron, Y.1
Ben Zeev, B.2
Shomrat, R.3
Bercovich, D.4
Naiman, T.5
Orr-Urtreger, A.6
-
85
-
-
37649022627
-
Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes
-
USA
-
Yasui DH, Peddada S, Bieda MC, Vallero RO, Hogart A, et al: Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. Proc Natl Acad Sci USA 104: 19416-19321 (2007
-
(2007)
Proc. Natl. Acad. Sci.
, vol.104
, pp. 19416-19321
-
-
Yasui, D.H.1
Peddada, S.2
Bieda, M.C.3
Vallero, R.O.4
Hogart, A.5
-
86
-
-
18244382110
-
In-frame deletion in MECP2 causes mild nonspecific mental retardation [6]
-
DOI 10.1002/ajmg.10085
-
Yntema HG, Oudakker AR, Kleefstra T, Hamel BC, van Bokhoven H, et al: In-frame deletion in MECP2 causes mild nonspecific mental retardation. Am J Med Genet 107: 81-83 (2002 (Pubitemid 34003365)
-
(2002)
American Journal of Medical Genetics
, vol.107
, Issue.1
, pp. 81-83
-
-
Yntema, H.G.1
Oudakker, A.R.2
Kleefstra, T.3
Hamel, B.C.J.4
Van Bokhoven, H.5
Chelly, J.6
Kalscheuer, V.M.7
Fryns, J.-P.8
Raynaud, M.9
Moizard, M.-P.10
Moraine, C.11
-
87
-
-
0025305473
-
Patterns of X chromosome inactivation in the Rett syndrome
-
Zoghbi HY, Percy AK, Schulz RJ, Fill C: Patterns of X chromosome inactivation in the Rett syndrome. Brain Dev 12: 131-135 (1990 (Pubitemid 20119245)
-
(1990)
Brain and Development
, vol.12
, Issue.1
, pp. 131-135
-
-
Zoghbi, H.Y.1
Percy, A.K.2
Schultz, R.J.3
Fill, C.4
-
88
-
-
34247641061
-
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
-
DOI 10.1086/515583
-
Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, et al: Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 80: 994-1001 (2007 (Pubitemid 46668469)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.5
, pp. 994-1001
-
-
Zweier, C.1
Peippo, M.M.2
Hoyer, J.3
Sousa, S.4
Bottani, A.5
Clayton-Smith, J.6
Reardon, W.7
Saraiva, J.8
Cabral, A.9
Gohring, I.10
Devriendt, K.11
De Ravel, T.12
Bijlsma, E.K.13
Hennekam, R.C.M.14
Orrico, A.15
Cohen, M.16
Dreweke, A.17
Reis, A.18
Nurnberg, P.19
Rauch, A.20
more..
-
89
-
-
56049110850
-
Further delineation of pitt-hopkins syndrome: Phenotypic and genotypic description of 16 novel patients
-
Zweier C, Sticht H, Bijlsma EK, Clayton-Smith J, Boonen SE, et al: Further delineation of Pitt- Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. J Med Genet 45: 738-744 (2008
-
(2008)
J. Med. Genet.
, vol.45
, pp. 738-744
-
-
Zweier, C.1
Sticht, H.2
Bijlsma, E.K.3
Clayton-Smith, J.4
Boonen, S.E.5
-
90
-
-
72149095158
-
CNTNAP2 and NRXN1 are mutated in autosomal-recessive pitt-hopkins- like mental retardation and determine the level of a common synaptic protein in drosophila
-
Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, et al: CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins- like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet 85: 655-666 (2009
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 655-666
-
-
Zweier, C.1
De Jong, E.K.2
Zweier, M.3
Orrico, A.4
Ousager, L.B.5
|