-
1
-
-
79952586788
-
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life
-
DOI: (Published online 11 February 2011).
-
Melani F, Mei D, Pisano T, et al. CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life. Dev Med Child Neurol DOI: (Published online 11 February 2011).
-
Dev Med Child Neurol
-
-
Melani, F.1
Mei, D.2
Pisano, T.3
-
2
-
-
0032144185
-
Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region
-
Montini E, Andolfi G, Caruso A, et al. Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics 1998; 51: 427-33.
-
(1998)
Genomics
, vol.51
, pp. 427-433
-
-
Montini, E.1
Andolfi, G.2
Caruso, A.3
-
3
-
-
33845988053
-
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation
-
Bertani I, Rusconi L, Bolognese F, et al. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. J Biol Chem 2006; 281: 32048-56.
-
(2006)
J Biol Chem
, vol.281
, pp. 32048-32056
-
-
Bertani, I.1
Rusconi, L.2
Bolognese, F.3
-
4
-
-
70449356630
-
CDKL5 influences RNA splicing activity by its association to the nuclear speckle machinery
-
Ricciardi S, Kilstrup-Nielsen C, Bienvenu T, Jacquette A, Landsberger N, Broccoli V. CDKL5 influences RNA splicing activity by its association to the nuclear speckle machinery. Hum Mol Genet 2009; 18: 4590-602.
-
(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
-
5
-
-
77957196807
-
CDKL5, a protein associated with Rett syndrome, regulates neuronal morphogenesis via Rac1 signaling
-
Chen Q, Zhu YC, Yu J, et al. CDKL5, a protein associated with Rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. J Neurosci 2010; 30: 12777-86.
-
(2010)
J Neurosci
, vol.30
, pp. 12777-12786
-
-
Chen, Q.1
Zhu, Y.C.2
Yu, J.3
-
6
-
-
0038353760
-
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
-
Kalscheuer V, Tao J, Donnelly A, et al. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 2003; 72: 1401-11.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1401-1411
-
-
Kalscheuer, V.1
Tao, J.2
Donnelly, A.3
-
7
-
-
13444263520
-
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms
-
Scala E, Ariani F, Mari F, et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 2005; 42: 103-7.
-
(2005)
J Med Genet
, vol.42
, pp. 103-107
-
-
Scala, E.1
Ariani, F.2
Mari, F.3
-
8
-
-
54949090865
-
Key clinical features to identify girls with CDKL5 mutations
-
Bahi-Buisson N, Nectoux J, Rosas-Vargas H, et al. Key clinical features to identify girls with CDKL5 mutations. Brain 2008; 131: 2647-61.
-
(2008)
Brain
, vol.131
, pp. 2647-2661
-
-
Bahi-Buisson, N.1
Nectoux, J.2
Rosas-Vargas, H.3
-
9
-
-
79952598623
-
Epilepsy caused by CDKL5 mutations
-
Castrén M, Gaily C, Tengström C, Lähdetie J, Archer H, Ala-Mello S. Epilepsy caused by CDKL5 mutations. Eur J Paediatr Neurol 2010; doi:.
-
(2010)
Eur J Paediatr Neurol
-
-
Castrén, M.1
Gaily, C.2
Tengström, C.3
Lähdetie, J.4
Archer, H.5
Ala-Mello, S.6
|