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Results: 1 to 20 of 121

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 20;281(42):32048-56. Epub 2006 Aug 24.

PMID:
16935860
[PubMed - indexed for MEDLINE]
Free Article
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. doi: 10.1007/s12017-012-8212-z. Epub 2012 Dec 15.

PMID:
23242510
[PubMed - indexed for MEDLINE]
3.

CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.

Lin C, Franco B, Rosner MR.

Hum Mol Genet. 2005 Dec 15;14(24):3775-86. Epub 2005 Dec 5.

PMID:
16330482
[PubMed - indexed for MEDLINE]
Free Article
4.

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.

PMID:
15499549
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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 31;283(44):30101-11. doi: 10.1074/jbc.M804613200. Epub 2008 Aug 13.

PMID:
18701457
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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. Epub 2004 Oct 18.

PMID:
15492925
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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. Epub 2006 Apr 12.

PMID:
16611748
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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. doi: 10.1007/s00109-010-0699-x. Epub 2010 Nov 24.

PMID:
21107515
[PubMed - indexed for MEDLINE]
9.

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. doi: 10.1093/brain/awn197. Epub 2008 Sep 12.

PMID:
18790821
[PubMed - indexed for MEDLINE]
Free Article
10.

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 1;18(23):4590-602. doi: 10.1093/hmg/ddp426. Epub 2009 Sep 9.

PMID:
19740913
[PubMed - indexed for MEDLINE]
Free Article
11.

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. doi: 10.1002/ajmg.a.35401. Epub 2012 Jun 7.

PMID:
22678952
[PubMed - indexed for MEDLINE]
12.

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 25;15:24. doi: 10.1186/1471-2350-15-24.

PMID:
24564546
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
15689447
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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. doi: 10.1016/j.ejpn.2011.01.005. Epub 2011 Jul 20.

PMID:
21775177
[PubMed - indexed for MEDLINE]
15.

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. doi: 10.1155/2012/728267. Epub 2012 Jun 17. Review.

PMID:
22779007
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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 15;149A(4):722-5. doi: 10.1002/ajmg.a.32711.

PMID:
19253388
[PubMed - indexed for MEDLINE]
17.

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N.

Hum Mol Genet. 2005 Jul 15;14(14):1935-46. Epub 2005 May 25.

PMID:
15917271
[PubMed - indexed for MEDLINE]
Free Article
18.

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T.

J Med Genet. 2008 Mar;45(3):172-8. Epub 2007 Nov 9.

PMID:
17993579
[PubMed - indexed for MEDLINE]
19.

The three stages of epilepsy in patients with CDKL5 mutations.

Bahi-Buisson N, Kaminska A, Boddaert N, Rio M, Afenjar A, Gérard M, Giuliano F, Motte J, Héron D, Morel MA, Plouin P, Richelme C, des Portes V, Dulac O, Philippe C, Chiron C, Nabbout R, Bienvenu T.

Epilepsia. 2008 Jun;49(6):1027-37. doi: 10.1111/j.1528-1167.2007.01520.x. Epub 2008 Feb 7.

PMID:
18266744
[PubMed - indexed for MEDLINE]
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 6;13:68. doi: 10.1186/1471-2350-13-68.

PMID:
22867051
[PubMed - indexed for MEDLINE]
Free PMC Article

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