-
1
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2
-
DOI 10.1038/13810
-
RE Amir IB Van den Veyver M Wan CQ Tran U Francke HY Zoghbi 1999 Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 Nat Genet 23 185 188 10508514 10.1038/13810 1:CAS:528: DyaK1MXmtlOhtbo%3D (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
-
-
33749242599
-
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients
-
DOI 10.1136/jmg.2006.041467
-
HL Archer J Evans S Edwards J Colley R Newbury-Ecob F O'Callaghan M Huyton M O'Regan J Tolmie J Sampson A Clarke J Osborne 2006 CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients J Med Genet 43 729 734 16611748 10.1136/jmg.2006.041467 1:CAS:528:DC%2BD28XhtFGrt7fF (Pubitemid 44483915)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.9
, pp. 729-734
-
-
Archer, H.L.1
Evans, J.2
Edwards, S.3
Colley, J.4
Newbury-Ecob, R.5
O'Callaghan, F.6
Huyton, M.7
O'Regan, M.8
Tolmie, J.9
Sampson, J.10
Clarke, A.11
Osborne, J.12
-
3
-
-
0028904853
-
Selective dendritic alterations in the cortex of Rett syndrome
-
7876888 10.1097/00005072-199503000-00006 1:STN:280:DyaK2M7ot1Wmug%3D%3D
-
D Armstrong JK Dunn B Antalffy R Trivedi 1995 Selective dendritic alterations in the cortex of Rett syndrome J Neuropathol Exp Neurol 54 195 201 7876888 10.1097/00005072-199503000-00006 1:STN:280:DyaK2M7ot1Wmug%3D%3D
-
(1995)
J Neuropathol Exp Neurol
, vol.54
, pp. 195-201
-
-
Armstrong, D.1
Dunn, J.K.2
Antalffy, B.3
Trivedi, R.4
-
4
-
-
29144440149
-
Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome
-
DOI 10.1016/j.nbd.2005.07.005, PII S0969996105002044
-
Y Asaka DG Jugloff L Zhang JH Eubanks RM Fitzsimonds 2006 Hippocampal synaptic plasticity is impaired in the Mecp2-null mouse model of Rett syndrome Neurobiol Dis 21 217 227 16087343 10.1016/j.nbd.2005.07.005 1:CAS:528: DC%2BD2MXhtlCkt7fP (Pubitemid 41817320)
-
(2006)
Neurobiology of Disease
, vol.21
, Issue.1
, pp. 217-227
-
-
Asaka, Y.1
Jugloff, D.G.M.2
Zhang, L.3
Eubanks, J.H.4
Fitzsimonds, R.M.5
-
5
-
-
44849144752
-
The three stages of epilepsy in patients with CDKL5 mutations
-
DOI 10.1111/j.1528-1167.2007.01520.x
-
N Bahi-Buisson A Kaminska N Boddaert M Rio A Afenjar M Gerard F Giuliano J Motte D Heron MA Morel P Plouin C Richelme V des Portes O Dulac C Philippe C Chiron R Nabbout T Bienvenu 2008 The three stages of epilepsy in patients with CDKL5 mutations Epilepsia 49 1027 1037 18266744 10.1111/j.1528-1167.2007.01520.x 1:CAS:528:DC%2BD1cXosVagsbc%3D (Pubitemid 351793996)
-
(2008)
Epilepsia
, vol.49
, Issue.6
, pp. 1027-1037
-
-
Bahi-Buisson, N.1
Kaminska, A.2
Boddaert, N.3
Rio, M.4
Afenjar, A.5
Gerard, M.6
Giuliano, F.7
Motte, J.8
Heron, D.9
Morel, M.A.N.10
Plouin, P.11
Richelme, C.12
Des Portes, V.13
Dulac, O.14
Philippe, C.15
Chiron, C.16
Nabbout, R.17
Bienvenu, T.18
-
6
-
-
54949090865
-
Key clinical features to identify girls with CDKL5 mutations
-
18790821 10.1093/brain/awn197
-
N Bahi-Buisson J Nectoux H Rosas-Vargas M Milh N Boddaert B Girard C Cances D Ville A Afenjar M Rio D Heron MA N'Guyen Morel A Arzimanoglou C Philippe P Jonveaux J Chelly T Bienvenu 2008 Key clinical features to identify girls with CDKL5 mutations Brain 131 2647 2661 18790821 10.1093/brain/awn197
-
(2008)
Brain
, vol.131
, pp. 2647-2661
-
-
Bahi-Buisson, N.1
Nectoux, J.2
Rosas-Vargas, H.3
Milh, M.4
Boddaert, N.5
Girard, B.6
Cances, C.7
Ville, D.8
Afenjar, A.9
Rio, M.10
Heron, D.11
N'Guyen Morel, M.A.12
Arzimanoglou, A.13
Philippe, C.14
Jonveaux, P.15
Chelly, J.16
Bienvenu, T.17
-
7
-
-
73949149517
-
Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene
-
19455595 1:CAS:528:DC%2BC3cXitVKitbs%3D
-
N Bahi-Buisson B Girard A Gautier J Nectoux Y Fichou Y Saillour K Poirier J Chelly T Bienvenu 2010 Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene Am J Med Genet B Neuropsychiatr Genet 153B 202 207 19455595 1:CAS:528: DC%2BC3cXitVKitbs%3D
-
(2010)
Am J Med Genet B Neuropsychiatr Genet
, vol.153
, pp. 202-207
-
-
Bahi-Buisson, N.1
Girard, B.2
Gautier, A.3
Nectoux, J.4
Fichou, Y.5
Saillour, Y.6
Poirier, K.7
Chelly, J.8
Bienvenu, T.9
-
8
-
-
0027963287
-
Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents
-
PV Belichenko A Oldfors B Hagberg A Dahlstrom 1994 Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents Neuroreport 5 1509 1513 7948850 10.1097/00001756-199407000-00025 1:STN:280: DyaK2M%2FjsF2ksA%3D%3D (Pubitemid 24251884)
-
(1994)
NeuroReport
, vol.5
, Issue.12
, pp. 1509-1513
-
-
Belichenko, P.V.1
Oldfors, A.2
Hagberg, B.3
Dahlstrom, A.4
-
9
-
-
62149119249
-
Evidence for both neuronal cell autonomous and nonautonomous effects of methyl-CpG-binding protein 2 in the cerebral cortex of female mice with Mecp2 mutation
-
19167498 10.1016/j.nbd.2008.12.016 1:CAS:528:DC%2BD1MXjsVOnsr4%3D
-
NP Belichenko PV Belichenko WC Mobley 2009 Evidence for both neuronal cell autonomous and nonautonomous effects of methyl-CpG-binding protein 2 in the cerebral cortex of female mice with Mecp2 mutation Neurobiol Dis 34 71 77 19167498 10.1016/j.nbd.2008.12.016 1:CAS:528:DC%2BD1MXjsVOnsr4%3D
-
(2009)
Neurobiol Dis
, vol.34
, pp. 71-77
-
-
Belichenko, N.P.1
Belichenko, P.V.2
Mobley, W.C.3
-
10
-
-
33845988053
-
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation
-
DOI 10.1074/jbc.M606325200
-
I Bertani L Rusconi F Bolognese G Forlani B Conca L De Monte G Badaracco N Landsberger C Kilstrup-Nielsen 2006 Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation J Biol Chem 281 32048 32056 16935860 10.1074/jbc.M606325200 1:CAS:528: DC%2BD28XhtVOrtrnN (Pubitemid 46041465)
-
(2006)
Journal of Biological Chemistry
, vol.281
, Issue.42
, pp. 32048-32056
-
-
Bertani, I.1
Rusconi, L.2
Bolognese, F.3
Forlani, G.4
Conca, B.5
De Monte, L.6
Badaracco, G.7
Landsberger, N.8
Kilstrup-Nielsen, C.9
-
11
-
-
10744222511
-
A WW domain binding region in methyl-CpG-binding protein MeCP2: Impact on Rett syndrome
-
DOI 10.1007/s00109-003-0497-9
-
JP Buschdorf WH Stratling 2004 A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome J Mol Med 82 135 143 14618241 10.1007/s00109-003-0497-9 1:CAS:528:DC%2BD2cXhtVygt7Y%3D (Pubitemid 38299712)
-
(2004)
Journal of Molecular Medicine
, vol.82
, Issue.2
, pp. 135-143
-
-
Buschdorf, J.P.1
Stratling, W.H.2
-
12
-
-
77952553247
-
CDKL5 is a brain MeCP2 target gene regulated by DNA methylation
-
20211261 10.1016/j.nbd.2010.02.014 1:CAS:528:DC%2BC3cXlsFansr0%3D
-
D Carouge L Host D Aunis J Zwiller P Anglard 2010 CDKL5 is a brain MeCP2 target gene regulated by DNA methylation Neurobiol Dis 38 414 424 20211261 10.1016/j.nbd.2010.02.014 1:CAS:528:DC%2BC3cXlsFansr0%3D
-
(2010)
Neurobiol Dis
, vol.38
, pp. 414-424
-
-
Carouge, D.1
Host, L.2
Aunis, D.3
Zwiller, J.4
Anglard, P.5
-
13
-
-
45849105557
-
MeCP2, a key contributor to neurological disease, activates and represses transcription
-
DOI 10.1126/science.1153252
-
M Chahrour SY Jung C Shaw X Zhou ST Wong J Qin HY Zoghbi 2008 MeCP2, a key contributor to neurological disease, activates and represses transcription Science 320 1224 1229 18511691 10.1126/science.1153252 1:CAS:528: DC%2BD1cXmt1OisrY%3D (Pubitemid 351929512)
-
(2008)
Science
, vol.320
, Issue.5880
, pp. 1224-1229
-
-
Chahrour, M.1
Sung, Y.J.2
Shaw, C.3
Zhou, X.4
Wong, S.T.C.5
Qin, J.6
Zoghbi, H.Y.7
-
14
-
-
77957196807
-
CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling
-
20861382 10.1523/JNEUROSCI.1102-10.2010 1:CAS:528:DC%2BC3cXht1CmsbjN
-
Q Chen YC Zhu J Yu S Miao J Zheng L Xu Y Zhou D Li C Zhang J Tao ZQ Xiong 2010 CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling J Neurosci 30 12777 12786 20861382 10.1523/JNEUROSCI.1102-10.2010 1:CAS:528:DC%2BC3cXht1CmsbjN
-
(2010)
J Neurosci
, vol.30
, pp. 12777-12786
-
-
Chen, Q.1
Zhu, Y.C.2
Yu, J.3
Miao, S.4
Zheng, J.5
Xu, L.6
Zhou, Y.7
Li, D.8
Zhang, C.9
Tao, J.10
Xiong, Z.Q.11
-
15
-
-
0037405913
-
RettBASE: The IRSA MECP2 variation database-A new mutation database in evolution
-
12673788 10.1002/humu.10194 1:CAS:528:DC%2BD3sXjslygtr4%3D
-
J Christodoulou A Grimm T Maher B Bennetts 2003 RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution Hum Mutat 21 466 472 12673788 10.1002/humu.10194 1:CAS:528:DC%2BD3sXjslygtr4%3D
-
(2003)
Hum Mutat
, vol.21
, pp. 466-472
-
-
Christodoulou, J.1
Grimm, A.2
Maher, T.3
Bennetts, B.4
-
16
-
-
73049092246
-
CDKL5 truncation due to a t(X;2) (p22.1;p25.3) in a girl with X-linked infantile spasm syndrome
-
19807736 10.1111/j.1399-0004.2009.01286.x 1:STN:280: DC%2BC3c%2Fjs1Kjtw%3D%3D
-
C Cordova-Fletes N Rademacher I Muller JN Mundo-Ayala EA Morales-Jeanhs JE Garcia-Ortiz A Leon-Gil H Rivera MG Dominguez VM Kalscheuer 2010 CDKL5 truncation due to a t(X;2) (p22.1;p25.3) in a girl with X-linked infantile spasm syndrome Clin Genet 77 92 96 19807736 10.1111/j.1399-0004.2009.01286.x 1:STN:280:DC%2BC3c%2Fjs1Kjtw%3D%3D
-
(2010)
Clin Genet
, vol.77
, pp. 92-96
-
-
Cordova-Fletes, C.1
Rademacher, N.2
Muller, I.3
Mundo-Ayala, J.N.4
Morales-Jeanhs, E.A.5
Garcia-Ortiz, J.E.6
Leon-Gil, A.7
Rivera, H.8
Dominguez, M.G.9
Kalscheuer, V.M.10
-
17
-
-
54049089062
-
CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy
-
18809835 10.1212/01.wnl.0000326592.37105.88 1:CAS:528: DC%2BD1cXhtFartL%2FK
-
M Elia M Falco R Ferri A Spalletta M Bottitta G Calabrese M Carotenuto SA Musumeci M Lo Giudice M Fichera 2008 CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy Neurology 71 997 999 18809835 10.1212/01.wnl.0000326592.37105.88 1:CAS:528:DC%2BD1cXhtFartL%2FK
-
(2008)
Neurology
, vol.71
, pp. 997-999
-
-
Elia, M.1
Falco, M.2
Ferri, R.3
Spalletta, A.4
Bottitta, M.5
Calabrese, G.6
Carotenuto, M.7
Musumeci, S.A.8
Lo Giudice, M.9
Fichera, M.10
-
18
-
-
27144463130
-
Early onset seizures and Rett-like features associated with mutations in CDKL5
-
DOI 10.1038/sj.ejhg.5201451, PII 5201451
-
JC Evans HL Archer JP Colley K Ravn JB Nielsen A Kerr E Williams J Christodoulou J Gecz PE Jardine MJ Wright DT Pilz L Lazarou DN Cooper JR Sampson R Butler SD Whatley AJ Clarke 2005 Early onset seizures and Rett-like features associated with mutations in CDKL5 Eur J Hum Genet 13 1113 1120 16015284 10.1038/sj.ejhg.5201451 1:CAS:528:DC%2BD2MXhtVehs7fL (Pubitemid 41486221)
-
(2005)
European Journal of Human Genetics
, vol.13
, Issue.10
, pp. 1113-1120
-
-
Evans, J.C.1
Archer, H.L.2
Colley, J.P.3
Ravn, K.4
Nielsen, J.B.5
Kerr, A.6
Williams, E.7
Christodoulou, J.8
Gecz, J.9
Jardine, P.E.10
Wright, M.J.11
Pilz, D.T.12
Lazarou, L.13
Cooper, D.N.14
Sampson, J.R.15
Butler, R.16
Whatley, S.D.17
Clarke, A.J.18
-
19
-
-
79251642973
-
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain
-
Fichou Y, Nectoux J, Bahi-Buisson N, Chelly J, Bienvenu T (2011) An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain. J Hum Genet 56:52-57
-
(2011)
J Hum Genet
, vol.56
, pp. 52-57
-
-
Fichou, Y.1
Nectoux, J.2
Bahi-Buisson, N.3
Chelly, J.4
Bienvenu, T.5
-
20
-
-
0038353760
-
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
-
DOI 10.1086/375538
-
VM Kalscheuer J Tao A Donnelly G Hollway E Schwinger S Kubart C Menzel M Hoeltzenbein N Tommerup H Eyre M Harbord E Haan GR Sutherland HH Ropers J Gecz 2003 Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation Am J Hum Genet 72 1401 1411 12736870 10.1086/375538 1:CAS:528:DC%2BD3sXktlyit78%3D (Pubitemid 36628380)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.6
, pp. 1401-1411
-
-
Kalscheuer, V.M.1
Tao, J.2
Donnelly, A.3
Hollway, G.4
Schwinger, E.5
Kubart, S.6
Menzel, C.7
Hoeltzenbein, M.8
Tommerup, N.9
Eyre, H.10
Harbord, M.11
Haan, E.12
Sutherland, G.R.13
Ropers, H.-H.14
Gecz, J.15
-
21
-
-
56349150405
-
Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1
-
18977197 10.1016/j.bbrc.2008.10.113 1:CAS:528:DC%2BD1cXhsVGhu7rM
-
I Kameshita M Sekiguchi D Hamasaki Y Sugiyama N Hatano I Suetake S Tajima N Sueyoshi 2008 Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1 Biochem Biophys Res Commun 377 1162 1167 18977197 10.1016/j.bbrc.2008.10.113 1:CAS:528:DC%2BD1cXhsVGhu7rM
-
(2008)
Biochem Biophys Res Commun
, vol.377
, pp. 1162-1167
-
-
Kameshita, I.1
Sekiguchi, M.2
Hamasaki, D.3
Sugiyama, Y.4
Hatano, N.5
Suetake, I.6
Tajima, S.7
Sueyoshi, N.8
-
22
-
-
29644439879
-
CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders
-
DOI 10.1093/hmg/ddi391
-
C Lin B Franco MR Rosner 2005 CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders Hum Mol Genet 14 3775 3786 16330482 10.1093/hmg/ddi391 1:CAS:528:DC%2BD2MXhtlChsrzJ (Pubitemid 43020080)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.24
, pp. 3775-3786
-
-
Lin, C.1
Franco, B.2
Rosner, M.R.3
-
23
-
-
26444495179
-
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome
-
DOI 10.1093/hmg/ddi198
-
F Mari S Azimonti I Bertani F Bolognese E Colombo R Caselli E Scala I Longo S Grosso C Pescucci F Ariani G Hayek P Balestri A Bergo G Badaracco M Zappella V Broccoli A Renieri C Kilstrup-Nielsen N Landsberger 2005 CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome Hum Mol Genet 14 1935 1946 15917271 10.1093/hmg/ddi198 1:CAS:528:DC%2BD2MXlslyjsrk%3D (Pubitemid 41418030)
-
(2005)
Human Molecular Genetics
, vol.14
, 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..
-
24
-
-
77951658571
-
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy
-
19780792 10.1111/j.1528-1167.2009.02308.x 1:CAS:528:DC%2BC3cXmtFClu7s%3D
-
D Mei C Marini F Novara BD Bernardina T Granata E Fontana E Parrini AR Ferrari A Murgia O Zuffardi R Guerrini 2010 Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy Epilepsia 51 647 654 19780792 10.1111/j.1528-1167.2009.02308.x 1:CAS:528:DC%2BC3cXmtFClu7s%3D
-
(2010)
Epilepsia
, vol.51
, pp. 647-654
-
-
Mei, D.1
Marini, C.2
Novara, F.3
Bernardina, B.D.4
Granata, T.5
Fontana, E.6
Parrini, E.7
Ferrari, A.R.8
Murgia, A.9
Zuffardi, O.10
Guerrini, R.11
-
25
-
-
0032144185
-
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region
-
DOI 10.1006/geno.1998.5391
-
E Montini G Andolfi A Caruso G Buchner SM Walpole M Mariani G Consalez D Trump A Ballabio B Franco 1998 Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region Genomics 51 427 433 9721213 10.1006/geno.1998.5391 1:CAS:528:DyaK1cXlvFSnsbc%3D (Pubitemid 28413209)
-
(1998)
Genomics
, vol.51
, Issue.3
, pp. 427-433
-
-
Montini, E.1
Andolfi, G.2
Caruso, A.3
Buchner, G.4
Walpole, S.M.5
Mariani, M.6
Consalez, G.7
Trump, D.8
Ballabio, A.9
Franco, B.10
-
26
-
-
30644479042
-
Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome
-
DOI 10.1523/JNEUROSCI.2623-05.2006
-
P Moretti JM Levenson F Battaglia R Atkinson R Teague B Antalffy D Armstrong O Arancio JD Sweatt HY Zoghbi 2006 Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome J Neurosci 26 319 327 16399702 10.1523/JNEUROSCI.2623-05.2006 1:CAS:528:DC%2BD28XmtV2ltw%3D%3D (Pubitemid 43089545)
-
(2006)
Journal of Neuroscience
, vol.26
, Issue.1
, pp. 319-327
-
-
Moretti, P.1
Levenson, J.M.2
Battaglia, F.3
Atkinson, R.4
Teague, R.5
Antalffy, B.6
Armstrong, D.7
Arancio, O.8
Sweatt, J.D.9
Zoghbi, H.Y.10
-
27
-
-
33746882850
-
Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome
-
DOI 10.1111/j.1399-0004.2006.00629.x
-
J Nectoux D Heron M Tallot J Chelly T Bienvenu 2006 Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome Clin Genet 70 29 33 16813600 10.1111/j.1399-0004.2006.00629.x 1:STN:280:DC%2BD28zpsVCgtQ%3D%3D (Pubitemid 44192731)
-
(2006)
Clinical Genetics
, vol.70
, Issue.1
, pp. 29-33
-
-
Nectoux, J.1
Heron, D.2
Tallot, M.3
Chelly, J.4
Bienvenu, T.5
-
28
-
-
70350176449
-
Mutational spectrum of CDKL5 in early-onset encephalopathies: A study of a large collection of French patients and review of the literature
-
19793311 10.1111/j.1399-0004.2009.01194.x 1:CAS:528:DC%2BD1MXhtlCgu7%2FO
-
C Nemos L Lambert F Giuliano B Doray A Roubertie A Goldenberg B Delobel V Layet MA N'Guyen A Saunier F Verneau P Jonveaux C Philippe 2009 Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature Clin Genet 76 357 371 19793311 10.1111/j.1399-0004.2009.01194.x 1:CAS:528:DC%2BD1MXhtlCgu7%2FO
-
(2009)
Clin Genet
, vol.76
, pp. 357-371
-
-
Nemos, C.1
Lambert, L.2
Giuliano, F.3
Doray, B.4
Roubertie, A.5
Goldenberg, A.6
Delobel, B.7
Layet, V.8
N'Guyen, M.A.9
Saunier, A.10
Verneau, F.11
Jonveaux, P.12
Philippe, C.13
-
29
-
-
49549116684
-
CDKL5 disruption by t(X;18) in a girl with West syndrome
-
18564362 10.1111/j.1399-0004.2008.01048.x 1:CAS:528:DC%2BD1cXhsVyms73L
-
A Nishimura T Takano T Mizuguchi H Saitsu Y Takeuchi N Matsumoto 2008 CDKL5 disruption by t(X;18) in a girl with West syndrome Clin Genet 74 288 290 18564362 10.1111/j.1399-0004.2008.01048.x 1:CAS:528:DC%2BD1cXhsVyms73L
-
(2008)
Clin Genet
, vol.74
, pp. 288-290
-
-
Nishimura, A.1
Takano, T.2
Mizuguchi, T.3
Saitsu, H.4
Takeuchi, Y.5
Matsumoto, N.6
-
30
-
-
37749019135
-
Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literature
-
18063413 10.1016/j.yebeh.2007.10.010
-
M Pintaudi MG Baglietto R Gaggero E Parodi A Pessagno M Marchi S Russo E Veneselli 2008 Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature Epilepsy Behav 12 326 331 18063413 10.1016/j.yebeh.2007.10.010
-
(2008)
Epilepsy Behav
, vol.12
, pp. 326-331
-
-
Pintaudi, M.1
Baglietto, M.G.2
Gaggero, R.3
Parodi, E.4
Pessagno, A.5
Marchi, M.6
Russo, S.7
Veneselli, E.8
-
31
-
-
75349095205
-
A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder
-
19428276 10.1016/j.ejpn.2009.03.006
-
S Psoni PJ Willems E Kanavakis A Mavrou H Frissyra J Traeger-Synodinos C Sofokleous P Makrythanassis S Kitsiou-Tzeli 2010 A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder Eur J Paediatr Neurol 14 188 191 19428276 10.1016/j.ejpn.2009.03.006
-
(2010)
Eur J Paediatr Neurol
, vol.14
, pp. 188-191
-
-
Psoni, S.1
Willems, P.J.2
Kanavakis, E.3
Mavrou, A.4
Frissyra, H.5
Traeger-Synodinos, J.6
Sofokleous, C.7
Makrythanassis, P.8
Kitsiou-Tzeli, S.9
-
32
-
-
70449356630
-
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery
-
19740913 10.1093/hmg/ddp426 1:CAS:528:DC%2BD1MXhtlygs7jN
-
S Ricciardi C Kilstrup-Nielsen T Bienvenu A Jacquette N Landsberger V Broccoli 2009 CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery Hum Mol Genet 18 4590 4602 19740913 10.1093/hmg/ddp426 1:CAS:528:DC%2BD1MXhtlygs7jN
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4590-4602
-
-
Ricciardi, S.1
Kilstrup-Nielsen, C.2
Bienvenu, T.3
Jacquette, A.4
Landsberger, N.5
Broccoli, V.6
-
33
-
-
40649104780
-
Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy
-
DOI 10.1136/jmg.2007.053504
-
H Rosas-Vargas N Bahi-Buisson C Philippe J Nectoux B Girard MA N'Guyen Morel C Gitiaux L Lazaro S Odent P Jonveaux J Chelly T Bienvenu 2008 Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy J Med Genet 45 172 178 17993579 10.1136/jmg.2007.053504 1:CAS:528: DC%2BD1cXks1WjsrY%3D (Pubitemid 351373747)
-
(2008)
Journal of Medical Genetics
, vol.45
, Issue.3
, pp. 172-178
-
-
Rosas-Vargas, H.1
Bahi-Buisson, N.2
Philippe, C.3
Nectoux, J.4
Girard, B.5
N'Guyen Morel, M.A.6
Gitiaux, C.7
Lazaro, L.8
Odent, S.9
Jonveaux, P.10
Chelly, J.11
Bienvenu, T.12
-
34
-
-
57649148768
-
CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail
-
18701457 10.1074/jbc.M804613200 1:CAS:528:DC%2BD1cXht1ynt7fJ
-
L Rusconi L Salvatoni L Giudici I Bertani C Kilstrup-Nielsen V Broccoli N Landsberger 2008 CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail J Biol Chem 283 30101 30111 18701457 10.1074/jbc.M804613200 1:CAS:528: DC%2BD1cXht1ynt7fJ
-
(2008)
J Biol Chem
, vol.283
, pp. 30101-30111
-
-
Rusconi, L.1
Salvatoni, L.2
Giudici, L.3
Bertani, I.4
Kilstrup-Nielsen, C.5
Broccoli, V.6
Landsberger, N.7
-
35
-
-
70249084575
-
Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes
-
19241098 10.1007/s10048-009-0177-1 1:CAS:528:DC%2BD1MXntVSqsLs%3D
-
S Russo M Marchi F Cogliati MT Bonati M Pintaudi E Veneselli V Saletti M Balestrini B Ben-Zeev L Larizza 2009 Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes Neurogenetics 10 241 250 19241098 10.1007/s10048-009-0177-1 1:CAS:528:DC%2BD1MXntVSqsLs%3D
-
(2009)
Neurogenetics
, vol.10
, pp. 241-250
-
-
Russo, S.1
Marchi, M.2
Cogliati, F.3
Bonati, M.T.4
Pintaudi, M.5
Veneselli, E.6
Saletti, V.7
Balestrini, M.8
Ben-Zeev, B.9
Larizza, L.10
-
36
-
-
66849129536
-
A CDKL5 mutated child with precocious puberty
-
19396824 10.1002/ajmg.a.32806 1:CAS:528:DC%2BD1MXlvFClsLk%3D
-
V Saletti L Canafoglia P Cambiaso S Russo M Marchi D Riva 2009 A CDKL5 mutated child with precocious puberty Am J Med Genet A 149A 1046 1051 19396824 10.1002/ajmg.a.32806 1:CAS:528:DC%2BD1MXlvFClsLk%3D
-
(2009)
Am J Med Genet A
, vol.149
, pp. 1046-1051
-
-
Saletti, V.1
Canafoglia, L.2
Cambiaso, P.3
Russo, S.4
Marchi, M.5
Riva, D.6
-
37
-
-
59849130084
-
A novel CDKL5 mutation in a 47, XXY boy with the early-onset seizure variant of Rett syndrome
-
19161156 10.1002/ajmg.a.32606 1:CAS:528:DC%2BD1MXjtF2gtbk%3D
-
S Sartori G Di Rosa R Polli E Bettella G Tricomi G Tortorella A Murgia 2009 A novel CDKL5 mutation in a 47, XXY boy with the early-onset seizure variant of Rett syndrome Am J Med Genet A 149A 232 236 19161156 10.1002/ajmg.a.32606 1:CAS:528:DC%2BD1MXjtF2gtbk%3D
-
(2009)
Am J Med Genet A
, vol.149
, pp. 232-236
-
-
Sartori, S.1
Di Rosa, G.2
Polli, R.3
Bettella, E.4
Tricomi, G.5
Tortorella, G.6
Murgia, A.7
-
38
-
-
13444263520
-
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
-
DOI 10.1136/jmg.2004.026237
-
E Scala F Ariani F Mari R Caselli C Pescucci I Longo I Meloni D Giachino M Bruttini G Hayek M Zappella A Renieri 2005 CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms J Med Genet 42 103 107 15689447 10.1136/jmg.2004.026237 1:CAS:528:DC%2BD2MXitFGms7o%3D (Pubitemid 40204363)
-
(2005)
Journal of Medical Genetics
, 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
-
39
-
-
76849094693
-
Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state
-
20188665 10.1016/j.molcel.2010.01.030 1:CAS:528:DC%2BC3cXlt1KkurY%3D
-
PJ Skene RS Illingworth S Webb AR Kerr KD James DJ Turner R Andrews AP Bird 2010 Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state Mol Cell 37 457 468 20188665 10.1016/j.molcel.2010.01.030 1:CAS:528:DC%2BC3cXlt1KkurY%3D
-
(2010)
Mol Cell
, vol.37
, pp. 457-468
-
-
Skene, P.J.1
Illingworth, R.S.2
Webb, S.3
Kerr, A.R.4
James, K.D.5
Turner, D.J.6
Andrews, R.7
Bird, A.P.8
-
40
-
-
8844252981
-
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
-
DOI 10.1086/426460
-
J Tao H Van Esch M Hagedorn-Greiwe K Hoffmann B Moser M Raynaud J Sperner JP Fryns E Schwinger J Gecz HH Ropers VM Kalscheuer 2004 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 15499549 10.1086/426460 1:CAS:528:DC%2BD2cXhtVegsrfM (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
-
41
-
-
8844269073
-
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
-
DOI 10.1086/426462
-
LS Weaving J Christodoulou SL Williamson KL Friend OL McKenzie H Archer J Evans A Clarke GJ Pelka PP Tam C Watson H Lahooti CJ Ellaway B Bennetts H Leonard J Gecz 2004 Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation Am J Hum Genet 75 1079 1093 15492925 10.1086/426462 1:CAS:528:DC%2BD2cXhtVegsrbN (Pubitemid 39532075)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.6
, pp. 1079-1093
-
-
Weaving, L.S.1
Christodoulou, J.2
Williamson, S.L.3
Friend, K.L.4
McKenzie, O.L.D.5
Archer, H.6
Evans, J.7
Clarke, A.8
Pelka, G.J.9
Tam, P.P.L.10
Watson, C.11
Lahooti, H.12
Ellaway, C.J.13
Bennetts, B.14
Leonard, H.15
Gecz, J.16
-
42
-
-
77953785018
-
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders
-
20397747 10.1375/twin.13.2.168
-
R White G Ho S Schmidt IE Scheffer A Fischer SC Yendle T Bienvenu J Nectoux CJ Ellaway A Darmanian X Tong D Cloosterman B Bennetts V Kalra T Fullston J Gecz TC Cox J Christodoulou 2010 Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders Twin Res Hum Genet 13 168 178 20397747 10.1375/twin.13.2.168
-
(2010)
Twin Res Hum Genet
, vol.13
, pp. 168-178
-
-
White, R.1
Ho, G.2
Schmidt, S.3
Scheffer, I.E.4
Fischer, A.5
Yendle, S.C.6
Bienvenu, T.7
Nectoux, J.8
Ellaway, C.J.9
Darmanian, A.10
Tong, X.11
Cloosterman, D.12
Bennetts, B.13
Kalra, V.14
Fullston, T.15
Gecz, J.16
Cox, T.C.17
Christodoulou, J.18
-
43
-
-
29144447632
-
Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2
-
DOI 10.1073/pnas.0507856102
-
JI Young EP Hong JC Castle J Crespo-Barreto AB Bowman MF Rose D Kang R Richman JM Johnson S Berget HY Zoghbi 2005 Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2 Proc Natl Acad Sci (USA) 102 17551 17558 10.1073/pnas.0507856102 1:CAS:528:DC%2BD2MXhtlegs77O (Pubitemid 41803535)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.49
, pp. 17551-17558
-
-
Young, J.I.1
Hong, E.P.2
Castle, J.C.3
Crespo-Barreto, J.4
Bowman, A.B.5
Rose, M.F.6
Kang, D.7
Richman, R.8
Johnson, J.M.9
Berget, S.10
Zoghbi, H.Y.11
|