256 related articles for article (PubMed ID: 18790821)
1. 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]
2. 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]
3. CDKL5 deficiency disorder and other infantile-onset genetic epilepsies.
Daniels C; Greene C; Smith L; Pestana-Knight E; Demarest S; Zhang B; Benke TA; Poduri A; Olson HE;
Dev Med Child Neurol; 2024 Apr; 66(4):456-468. PubMed ID: 37771170
[TBL] [Abstract][Full Text] [Related]
4. First report of Tunisian patients with CDKL5-related encephalopathy.
Charfi Triki C; Zouari Mallouli S; Ben Jdila M; Ben Said M; Kamoun Feki F; Weckhuysen S; Masmoudi S; Fakhfakh F
Epilepsia Open; 2023 Sep; ():. PubMed ID: 37701975
[TBL] [Abstract][Full Text] [Related]
5. Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.
Lucariello M; Vidal E; Vidal S; Saez M; Roa L; Huertas D; Pineda M; Dalfó E; Dopazo J; Jurado P; Armstrong J; Esteller M
Hum Genet; 2016 Dec; 135(12):1343-1354. PubMed ID: 27541642
[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. Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study.
Neul JL; Benke TA; Marsh ED; Suter B; Silveira L; Fu C; Peters SU; Percy AK;
J Neurodev Disord; 2023 Oct; 15(1):33. PubMed ID: 37833681
[TBL] [Abstract][Full Text] [Related]
8. CDKL5-mediated developmental tuning of neuronal excitability and concomitant regulation of transcriptome.
Liao W; Lee KZ
Hum Mol Genet; 2023 Nov; 32(23):3276-3298. PubMed ID: 37688574
[TBL] [Abstract][Full Text] [Related]
9. Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study.
Pepe G; Coco R; Corica D; Di Rosa G; Bossowski F; Skorupska M; Aversa T; Stagi S; Wasniewska M
Genes (Basel); 2024 Feb; 15(3):. PubMed ID: 38540345
[TBL] [Abstract][Full Text] [Related]
10. Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.
Olson HE; Demarest ST; Pestana-Knight EM; Swanson LC; Iqbal S; Lal D; Leonard H; Cross JH; Devinsky O; Benke TA
Pediatr Neurol; 2019 Aug; 97():18-25. PubMed ID: 30928302
[TBL] [Abstract][Full Text] [Related]
11. CDKL5 deficiency in adult glutamatergic neurons alters synaptic activity and causes spontaneous seizures via TrkB signaling.
Zhu ZA; Li YY; Xu J; Xue H; Feng X; Zhu YC; Xiong ZQ
Cell Rep; 2023 Oct; 42(10):113202. PubMed ID: 37777961
[TBL] [Abstract][Full Text] [Related]
12. Epilepsy-linked kinase CDKL5 phosphorylates voltage-gated calcium channel Cav2.3, altering inactivation kinetics and neuronal excitability.
Sampedro-Castañeda M; Baltussen LL; Lopes AT; Qiu Y; Sirvio L; Mihaylov SR; Claxton S; Richardson JC; Lignani G; Ultanir SK
Nat Commun; 2023 Dec; 14(1):7830. PubMed ID: 38081835
[TBL] [Abstract][Full Text] [Related]
13. Voluntary Running Improves Behavioral and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.
Mottolese N; Uguagliati B; Tassinari M; Cerchier CB; Loi M; Candini G; Rimondini R; Medici G; Trazzi S; Ciani E
Biomolecules; 2023 Sep; 13(9):. PubMed ID: 37759796
[TBL] [Abstract][Full Text] [Related]
14. The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S; Brandi N; Pacheco P; Gerotina E; Blasco L; Trotta JR; Derdak S; Del Mar O'Callaghan M; Garcia-Cazorla À; Pineda M; Armstrong J;
Sci Rep; 2017 Sep; 7(1):12288. PubMed ID: 28947817
[TBL] [Abstract][Full Text] [Related]
15. Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Keehan L; Haviland I; Gofin Y; Swanson LC; El Achkar CM; Schreiber J; VanNoy GE; O'Heir E; O'Donnell-Luria A; Lewis RA; Magoulas P; Tran A; Azamian MS; Chao HT; Pham L; Samaco RC; Elsea S; Thorpe E; Kesari A; Perry D; Lee B; Lalani SR; Rosenfeld JA; Olson HE; Burrage LC;
Am J Med Genet A; 2022 Dec; 188(12):3516-3524. PubMed ID: 35934918
[TBL] [Abstract][Full Text] [Related]
16. Rett and Rett-related disorders: Common mechanisms for shared symptoms?
D'Mello SR
Exp Biol Med (Maywood); 2023 Nov; 248(22):2095-2108. PubMed ID: 38057990
[TBL] [Abstract][Full Text] [Related]
17. Top Caregiver Concerns in Rett syndrome and related disorders: data from the US Natural History Study.
Neul JL; Benke TA; Marsh ED; Suter B; Silveira L; Fu C; Peters SU; Percy AK;
Res Sq; 2023 Mar; ():. PubMed ID: 36993737
[TBL] [Abstract][Full Text] [Related]
18. Severity Assessment in CDKL5 Deficiency Disorder.
Demarest S; Pestana-Knight EM; Olson HE; Downs J; Marsh ED; Kaufmann WE; Partridge CA; Leonard H; Gwadry-Sridhar F; Frame KE; Cross JH; Chin RFM; Parikh S; Panzer A; Weisenberg J; Utley K; Jaksha A; Amin S; Khwaja O; Devinsky O; Neul JL; Percy AK; Benke TA
Pediatr Neurol; 2019 Aug; 97():38-42. PubMed ID: 31147226
[TBL] [Abstract][Full Text] [Related]
19. Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder?
Barbiero I; De Rosa R; Kilstrup-Nielsen C
Int J Mol Sci; 2019 Aug; 20(17):. PubMed ID: 31438497
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
