-
2
-
-
42249095974
-
Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
-
DOI 10.1212/01.wnl.0000291011.54508.aa
-
Neul JL, Fang P, Barrish J, et al. Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome. Neurology. 2008 ; 70: 1313-1321 (Pubitemid 351550354)
-
(2008)
Neurology
, vol.70
, Issue.16
, pp. 1313-1321
-
-
Neul, J.L.1
Fang, P.2
Barrish, J.3
Lane, J.4
Caeg, E.B.5
Smith, E.O.6
Zoghbi, H.7
Percy, A.8
Glaze, D.G.9
-
3
-
-
80052696272
-
MeCP2 and Rett syndrome: Reversibility and potential avenues for therapy
-
Gadalla KKE, Baily MES, Cobb SR. MeCP2 and Rett syndrome: reversibility and potential avenues for therapy. Biochem J. 2011 ; 439: 1-14
-
(2011)
Biochem J
, vol.439
, pp. 1-14
-
-
Gadalla, K.K.E.1
Baily, M.E.S.2
Cobb, S.R.3
-
4
-
-
80053997718
-
MeCp2 Rett mutations affect large scale chromatin organization
-
Agarwal N, Becker A, Jost KL, et al. MeCp2 Rett mutations affect large scale chromatin organization. Human Mol Genet. 2011 ; 20: 4187-4195
-
(2011)
Human Mol Genet
, vol.20
, pp. 4187-4195
-
-
Agarwal, N.1
Becker, A.2
Jost, K.L.3
-
5
-
-
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
-
DOI 10.1053/ejpn.2002.0612
-
Hagberg B, Hanefeld F, Percy A, Skjeldal O. 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. Eur J Paediatr Neurol. 2002 ; 6: 293-297 (Pubitemid 36267302)
-
(2002)
European Journal of Paediatric Neurology
, vol.6
, Issue.5
, pp. 293-297
-
-
Hagberg, B.1
Hanefeld, F.2
Percy, A.3
Skjeldal, O.4
-
6
-
-
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, Eriksonn M, Albåge M, Lagercrantz H, Katz-Salamon M. Disturbances in cardiorespiratory function during day and night in Rett syndrome. Pediatr Neurol. 2007 ; 37: 338-344 (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
-
7
-
-
0031471323
-
Rett syndrome: Analysis of deaths in the British survey
-
Kerr AM, Amstrong DD, Prescott RJ, Doyle D, Kearney DL. Rett syndrome: analysis of death in the British survey. Eur Child Adolesc Psychiatry. 1997 ; 6: 71-74 (Pubitemid 28027156)
-
(1997)
European Child and Adolescent Psychiatry
, vol.6
, Issue.SUPPL. 1
, pp. 71-74
-
-
Kerr, A.M.1
Armstrong, D.D.2
Prescott, R.J.3
Doyle, D.4
Kearney, D.L.5
-
8
-
-
0030808740
-
Immaturity of medullary cardiorespiratory neurones leading to inappropriate autonomic reactions as a likely cause of sudden death in Rett's syndrome [4]
-
Julu PO, Kerr AM, Hansen S, Apartopoulos F, Jamal GA. Immaturity of medullary cardiorespiratory neurones leading to inappropriate autonomic reactions as a likely cause of sudden death in Rett's syndrome. Arch Dis Child. 1997 ; 77: 464-465 (Pubitemid 27521540)
-
(1997)
Archives of Disease in Childhood
, vol.77
, Issue.5
, pp. 464-465
-
-
Julu, P.O.O.1
Kerr, A.M.2
Hansen, S.3
Apartopoulos, F.4
Jamal, G.A.5
-
9
-
-
57349174628
-
Autonomic dysregulation in young girls with Rett syndrome during nighttime in-home recordings
-
Weese-Mayer DE, Lieske SP, Boothby CM, Kenny AS, Bennett HL, Ramirez JM. Autonomic dysregulation in young girls with Rett syndrome during nighttime in-home recordings. Pediatr Pulmonol. 43: 1045-1060
-
Pediatr Pulmonol
, vol.43
, pp. 1045-1060
-
-
Weese-Mayer, D.E.1
Lieske, S.P.2
Boothby, C.M.3
Kenny, A.S.4
Bennett, H.L.5
Ramirez, J.M.6
-
10
-
-
27144461978
-
Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome
-
Julu PO, Engerström IW. Assessment of the maturity-related brainstem functions reveals the heterogeneous phenotypes and facilitates clinical management of Rett syndrome. Brain Dev. 2005 ; (27 suppl 1). S43 - S53
-
(2005)
Brain Dev
, Issue.27 SUPPL. 1
-
-
Julu, P.O.1
Engerström, I.W.2
-
11
-
-
44949214686
-
Cardiorespiratory challenges in Rett's syndrome
-
DOI 10.1016/S0140-6736(08)60849-1, PII S0140673608608491
-
Julu PO, Engerström IW, Hansen S, et al. Cardiorespiratory challenges in Rett's syndrome. Lancet. 2008 ; 371: 1981-1983 (Pubitemid 351802279)
-
(2008)
The Lancet
, vol.371
, Issue.9629
, pp. 1981-1983
-
-
Julu, P.O.1
Engerstrom, I.W.2
Hansen, S.3
Apartopoulos, F.4
Engerstrom, B.5
Pini, G.6
Delamont, R.S.7
Smeets, E.E.8
-
12
-
-
70349652460
-
Central sleep apnoea in Rett syndrome
-
D'Orsi G, Demaio V, Scarpelli F, Calvario T, Minervini MG. Central sleep apnoea in Rett syndrome. Neurol Sci. 2009 ; 30: 389-391
-
(2009)
Neurol Sci
, vol.30
, pp. 389-391
-
-
D'Orsi, G.1
Demaio, V.2
Scarpelli, F.3
Calvario, T.4
Minervini, M.G.5
-
13
-
-
1842429102
-
Phenotypic Manifestations of MECP2 Mutations in Classical and Atypical Rett Syndrome
-
Schanen C, Houwink EJF, Dorrani N, et al. Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. Am J Med Genet A. 2004 ; 126A: 129-140 (Pubitemid 38445468)
-
(2004)
American Journal of Medical Genetics
, vol.126 A
, Issue.2
, pp. 129-140
-
-
Schanen, C.1
Houwink, E.J.F.2
Dorrani, N.3
Lane, J.4
Everett, R.5
Feng, A.6
Cantor, R.M.7
Percy, A.8
-
14
-
-
0030463120
-
The Sleep Disturbance Scale for Children (SDSC) construction and validation of an instrument to evaluate sleep disturbances in childhood and adolescence
-
Bruni O, Ottaviano S, Guidetti V, et al. The sleep disturbance Scale for Children (SDCS) construction and validation of an instrument to evaluate sleep disturbances in childhood and adolescence. J Sleep Res. 1996 ; 5: 251-261 (Pubitemid 27047036)
-
(1996)
Journal of Sleep Research
, vol.5
, Issue.4
, pp. 251-261
-
-
Bruni, O.1
Ottaviano, S.2
Guidetti, V.3
Romoli, M.4
Innocenzi, M.5
Cortesi, F.6
Giannotti, F.7
-
15
-
-
34247475945
-
-
1st ed. Westchester, IL: American Academy of Sleep Medicine;2007:48-49. Westchester, IL
-
Iber C, Ancoli-Israel S, Chesson AL, Quan SF 1 st ed. Westchester, IL: American Academy of Sleep Medicine;2007:48-49. Westchester, IL: American Academy of Sleep Medicine ; 2007: 48-49.
-
(2007)
American Academy of Sleep Medicine
, pp. 48-49
-
-
Iber, C.1
Ancoli-Israel, S.2
Chesson, A.L.3
Quan, S.F.4
-
16
-
-
60849099649
-
Plasma IGF-1 levels and cognitive dysfunction in children with obstructive sleep apnea
-
Gozal D, Capdevilla OS, McLaughlin Crabtree V, Serpero LD, Witcher LA, Kheirandish-Gozal L. Plasma IGF-1 levels and cognitive dysfunction in children with obstructive sleep apnea. Sleep Med. 2009 ; 10: 167-173
-
(2009)
Sleep Med
, vol.10
, pp. 167-173
-
-
Gozal, D.1
Capdevilla, O.S.2
McLaughlin Crabtree, V.3
Serpero, L.D.4
Witcher, L.A.5
Kheirandish-Gozal, L.6
-
17
-
-
49749089703
-
Spectrum of polysomnographic abnormalities in children with epilepsy
-
Kaleyias J, Crus M, Goraya JS, et al. Spectrum of polysomnographic abnormalities in children with epilepsy. Pediatr Neurol. 2008 ; 39: 170-176
-
(2008)
Pediatr Neurol
, vol.39
, pp. 170-176
-
-
Kaleyias, J.1
Crus, M.2
Goraya, J.S.3
-
18
-
-
70350306951
-
Acute cardiovascular changes with obstructive events in children with sleep disordered breathing
-
O'Driscoll DM, Foster AM, Ng ML, et al. Acute cardiovascular changes with obstructive events in children with sleep disordered breathing. Sleep. 2009 ; 32: 1265-1271
-
(2009)
Sleep
, vol.32
, pp. 1265-1271
-
-
O'Driscoll, D.M.1
Foster, A.M.2
Ng, M.L.3
-
19
-
-
0036105691
-
Assessment of inspiratory flow limitation in children with sleep-disordered breathing by a nasal cannula pressure transducer system
-
DOI 10.1002/ppul.10096
-
Serebrisky D, Cordero R, Mandeli J, Kattan M, Lamm C. Assessment of inspiratory flow limitation in children with sleep-disordered breathing by a nasal cannula pressure transducer system. Pediatr Pulmonol. 2002 ; 33: 380-387 (Pubitemid 34407755)
-
(2002)
Pediatric Pulmonology
, vol.33
, Issue.5
, pp. 380-387
-
-
Serebrisky, D.1
Cordero, R.2
Mandeli, J.3
Kattan, M.4
Lamm, C.5
-
20
-
-
0842346562
-
Adenotonsillectomy in Children with Obstructive Sleep Apnea Syndrome Reduces Health Care Utilization
-
DOI 10.1542/peds.113.2.351
-
Tarasiuk A, Simon T, Tal A, Reuven H. Adenotonsillectomy in children with obstructive sleep apnea syndrome reduces health care utilization. Pediatrics. 2004 ; 113: 351-356 (Pubitemid 38177087)
-
(2004)
Pediatrics
, vol.113
, Issue.2
, pp. 351-356
-
-
Tarasiuk, A.1
Simon, T.2
Tal, A.3
Reuveni, H.4
-
21
-
-
0023157148
-
Rett's syndrome: Characterization of respiratory patterns and sleep
-
DOI 10.1002/ana.410210410
-
Glaze DG, Frost JD, Zoghbi HY, Percy AK. Rett's syndrome: characterization of respiratory patterns and sleep. Ann Neurol. 1987 ; 21: 377-382 (Pubitemid 17053275)
-
(1987)
Annals of Neurology
, vol.21
, Issue.4
, pp. 377-382
-
-
Glaze, D.G.1
Frost Jr., J.D.2
Zoghbi, H.Y.3
Percy, A.K.4
-
22
-
-
0023718501
-
Hyperventilation in the awake state: Potentially treatable component of Rett syndrome
-
Southall DP, Kerr AM, Tirosh E, Amos P, Lang MH, Stephenson JB. Hyperventilation in the awake state: potentially treatable component of Rett syndrome. Arch Dis Child. 1988 ; 63: 1039-1048
-
(1988)
Arch Dis Child
, vol.63
, pp. 1039-1048
-
-
Southall, D.P.1
Kerr, A.M.2
Tirosh, E.3
Amos, P.4
Lang, M.H.5
Stephenson, J.B.6
-
23
-
-
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. 2009 ; 168: 101-108
-
(2009)
Respir Physiol Neurobiol
, vol.168
, pp. 101-108
-
-
Katz, D.M.1
Dutschmann, M.2
Ramirez, J.M.3
Hilaire, G.4
-
24
-
-
33947145165
-
-/y knockout mice
-
DOI 10.1113/jphysiol.2006.119966
-
Stettner GM, Huppke P, Brendel C, Richter DW, Gärtner J, Dutschmann M. Breathing dysfunction associated with impaired control of postinspiratory activity in Mecp2 /y knockout mice. J Physiol. 2007 ; 579 (pt 3). 863-876 (Pubitemid 46404365)
-
(2007)
Journal of Physiology
, vol.579
, Issue.3
, pp. 863-876
-
-
Stettner, G.M.1
Huppke, P.2
Brendel, C.3
Richter, D.W.4
Gartner, J.5
Dutschmann, M.6
-
25
-
-
49649114388
-
Aging in people with specific genetic syndromes: Rett syndrome
-
Halbach NS, Smeets EE, Schrander-Stumpel CT, van Schrojenstein Lantman de Valk HH, Maaskant MA, Curfs LM. Aging in people with specific genetic syndromes: Rett syndrome. Am J Med Genet A. 2008 ; 146A: 1925-1932
-
(2008)
Am J Med Genet A
, vol.146
, pp. 1925-1932
-
-
Halbach, N.S.1
Smeets, E.E.2
Schrander-Stumpel, C.T.3
Van Schrojenstein Lantman De Valk, H.H.4
Maaskant, M.A.5
Curfs, L.M.6
-
26
-
-
77958001185
-
Paroxysmal activity and seizures associated with sleep breathing disorder in children: A possible overlap between diurnal and nocturnal symptoms
-
Miano S, Bachiller C, Gutiérrez M, Salcedo A, Villa MP, Peraita-Adrados R. Paroxysmal activity and seizures associated with sleep breathing disorder in children: a possible overlap between diurnal and nocturnal symptoms. Seizure. 2010 ; 19: 547-552
-
(2010)
Seizure
, vol.19
, pp. 547-552
-
-
Miano, S.1
Bachiller, C.2
Gutiérrez, M.3
Salcedo, A.4
Villa, M.P.5
Peraita-Adrados, R.6
-
27
-
-
0033978862
-
Sleep apnea treatment improves seizure control in children with neurodevelopmental disorders
-
DOI 10.1016/S0887-8994(99)00114-9, PII S0887899499001149
-
Koh S, Ward SL, Lin M, Chen LS. Sleep apnea treatment improves seizure control in children with neurodevelopmental disorders. Pediatr Neurol. 2000 ; 22: 36-39 (Pubitemid 30045602)
-
(2000)
Pediatric Neurology
, vol.22
, Issue.1
, pp. 36-39
-
-
Koh, S.1
Ward, S.L.2
Lin, M.3
Chen, L.S.4
-
28
-
-
4544375876
-
Afebrile seizures associated with infections: Comparison with febrile and unprovoked seizures
-
Lee WL, Ong HT. Afebrile seizures associated with infections: comparison with febrile and unprovoked seizures. Pediatr Neurol. 2004 ; 31: 157-164
-
(2004)
Pediatr Neurol
, vol.31
, pp. 157-164
-
-
Lee, W.L.1
Ong, H.T.2
-
29
-
-
0037405096
-
Prevalence of hearing loss in Rett syndrome
-
DOI 10.1017/S0012162203000628
-
Pillion JP, Rawool VW, Bibat G, Naidu S. Prevalence of hearing loss in Rett syndrome. Dev Med Child Neurol. 2003 ; 45: 338-343 (Pubitemid 36469393)
-
(2003)
Developmental Medicine and Child Neurology
, vol.45
, Issue.5
, pp. 338-343
-
-
Pillion, J.P.1
Rawool, V.W.2
Bibat, G.3
Naidu, S.4
-
30
-
-
17444421924
-
Natural history of snoring and obstructive sleep apnea in Thai school-age children
-
DOI 10.1002/ppul.20207
-
Anuntaseree W, Kuasirikul S, Suntornlohanakul S. Natural history of snoring and obstructive sleep apnea in Thai school-age children. Pediatr Pulmonol. 2005 ; 39: 415-420 (Pubitemid 40548282)
-
(2005)
Pediatric Pulmonology
, vol.39
, Issue.5
, pp. 415-420
-
-
Anuntaseree, W.1
Kuasirikul, S.2
Suntornlohanakul, S.3
|