214 related articles for article (PubMed ID: 16935860)
1. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation.
Bertani I; Rusconi L; Bolognese F; Forlani G; Conca B; De Monte L; Badaracco G; Landsberger N; Kilstrup-Nielsen C
J Biol Chem; 2006 Oct; 281(42):32048-56. PubMed ID: 16935860
[TBL] [Abstract][Full Text] [Related]
2. Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.
Das DK; Mehta B; Menon SR; Raha S; Udani V
Neuromolecular Med; 2013 Mar; 15(1):218-25. PubMed ID: 23242510
[TBL] [Abstract][Full Text] [Related]
3. CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.
Lin C; Franco B; Rosner MR
Hum Mol Genet; 2005 Dec; 14(24):3775-86. PubMed ID: 16330482
[TBL] [Abstract][Full Text] [Related]
4. CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail.
Rusconi L; Salvatoni L; Giudici L; Bertani I; Kilstrup-Nielsen C; Broccoli V; Landsberger N
J Biol Chem; 2008 Oct; 283(44):30101-11. PubMed ID: 18701457
[TBL] [Abstract][Full Text] [Related]
5. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.
Archer HL; Evans J; Edwards S; Colley J; Newbury-Ecob R; O'Callaghan F; Huyton M; O'Regan M; Tolmie J; Sampson J; Clarke A; Osborne J
J Med Genet; 2006 Sep; 43(9):729-34. PubMed ID: 16611748
[TBL] [Abstract][Full Text] [Related]
6. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
Tao J; Van Esch H; Hagedorn-Greiwe M; Hoffmann K; Moser B; Raynaud M; Sperner J; Fryns JP; Schwinger E; Gécz J; Ropers HH; Kalscheuer VM
Am J Hum Genet; 2004 Dec; 75(6):1149-54. PubMed ID: 15499549
[TBL] [Abstract][Full Text] [Related]
7. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Weaving LS; Christodoulou J; Williamson SL; Friend KL; McKenzie OL; Archer H; Evans J; Clarke A; Pelka GJ; Tam PP; Watson C; Lahooti H; Ellaway CJ; Bennetts B; Leonard H; Gécz J
Am J Hum Genet; 2004 Dec; 75(6):1079-93. PubMed ID: 15492925
[TBL] [Abstract][Full Text] [Related]
8. Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.
Zhao Y; Zhang X; Bao X; Zhang Q; Zhang J; Cao G; Zhang J; Li J; Wei L; Pan H; Wu X
BMC Med Genet; 2014 Feb; 15():24. PubMed ID: 24564546
[TBL] [Abstract][Full Text] [Related]
9. Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
Bahi-Buisson N; Villeneuve N; Caietta E; Jacquette A; Maurey H; Matthijs G; Van Esch H; Delahaye A; Moncla A; Milh M; Zufferey F; Diebold B; Bienvenu T
Am J Med Genet A; 2012 Jul; 158A(7):1612-9. PubMed ID: 22678952
[TBL] [Abstract][Full Text] [Related]
10. What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.
Kilstrup-Nielsen C; Rusconi L; La Montanara P; Ciceri D; Bergo A; Bedogni F; Landsberger N
Neural Plast; 2012; 2012():728267. PubMed ID: 22779007
[TBL] [Abstract][Full Text] [Related]
11. CDKL5/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; Renieri A
J Med Genet; 2005 Feb; 42(2):103-7. PubMed ID: 15689447
[TBL] [Abstract][Full Text] [Related]
12. HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder.
Trazzi S; Fuchs C; Viggiano R; De Franceschi M; Valli E; Jedynak P; Hansen FK; Perini G; Rimondini R; Kurz T; Bartesaghi R; Ciani E
Hum Mol Genet; 2016 Sep; 25(18):3887-3907. PubMed ID: 27466189
[TBL] [Abstract][Full Text] [Related]
13. Key clinical features to identify girls with CDKL5 mutations.
Bahi-Buisson N; Nectoux J; Rosas-Vargas H; Milh M; Boddaert N; Girard B; Cances C; Ville D; Afenjar A; Rio M; Héron D; N'guyen Morel MA; Arzimanoglou A; Philippe C; Jonveaux P; Chelly J; Bienvenu T
Brain; 2008 Oct; 131(Pt 10):2647-61. PubMed ID: 18790821
[TBL] [Abstract][Full Text] [Related]
14. Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy.
Nectoux J; Fichou Y; Cagnard N; Bahi-Buisson N; Nusbaum P; Letourneur F; Chelly J; Bienvenu T
J Mol Med (Berl); 2011 Feb; 89(2):193-202. PubMed ID: 21107515
[TBL] [Abstract][Full Text] [Related]
15. Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.
Intusoma U; Hayeeduereh F; Plong-On O; Sripo T; Vasiknanonte P; Janjindamai S; Lusawat A; Thammongkol S; Visudtibhan A; Limprasert P
Eur J Paediatr Neurol; 2011 Sep; 15(5):432-8. PubMed ID: 21775177
[TBL] [Abstract][Full Text] [Related]
16. CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.
Ricciardi S; Kilstrup-Nielsen C; Bienvenu T; Jacquette A; Landsberger N; Broccoli V
Hum Mol Genet; 2009 Dec; 18(23):4590-602. PubMed ID: 19740913
[TBL] [Abstract][Full Text] [Related]
17. A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.
Sprovieri T; Conforti FL; Fiumara A; Mazzei R; Ungaro C; Citrigno L; Muglia M; Arena A; Quattrone A
Am J Med Genet A; 2009 Feb; 149A(4):722-5. PubMed ID: 19253388
[TBL] [Abstract][Full Text] [Related]
18. Molecular and Synaptic Bases of CDKL5 Disorder.
Zhu YC; Xiong ZQ
Dev Neurobiol; 2019 Jan; 79(1):8-19. PubMed ID: 30246934
[TBL] [Abstract][Full Text] [Related]
19. CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells.
Valli E; Trazzi S; Fuchs C; Erriquez D; Bartesaghi R; Perini G; Ciani E
Biochim Biophys Acta; 2012; 1819(11-12):1173-85. PubMed ID: 22921766
[TBL] [Abstract][Full Text] [Related]
20. CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.
Maortua H; Martínez-Bouzas C; Calvo MT; Domingo MR; Ramos F; García-Ribes A; Martínez MJ; López-Aríztegui MA; Puente N; Rubio I; Tejada MI
BMC Med Genet; 2012 Aug; 13():68. PubMed ID: 22867051
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
