scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1041545877 |
P356 | DOI | 10.1007/S10048-011-0277-6 |
P698 | PubMed publication ID | 21318334 |
P50 | author | Vera M. Kalscheuer | Q28468812 |
Irina Stefanova | Q42871067 | ||
P2093 | author name string | Wolfgang Lieb | |
Georg Christoph Korenke | |||
Franco Laccone | |||
Ute Fischer | |||
Gabriele Gillessen-Kaesbach | |||
Andreas Tzschach | |||
Berten Ceulemans | |||
Rainer Boor | |||
Bettina Moser | |||
Charlotte Runge | |||
Melanie Hambrock | |||
Nils Rademacher | |||
Stefanie Spranger | |||
P2860 | cites work | Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation | Q24532056 |
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation | Q24534159 | ||
CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery | Q28257945 | ||
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Q33910551 | ||
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. | Q34415995 | ||
An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain | Q60894792 | ||
P433 | issue | 2 | |
P921 | main subject | Severe mental retardation | Q12373588 |
P304 | page(s) | 165-167 | |
P577 | publication date | 2011-02-12 | |
P1433 | published in | Neurogenetics | Q15710048 |
P1476 | title | Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. | |
P478 | volume | 12 |
Q50305506 | CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. |
Q34367603 | CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain |
Q48428697 | CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients. |
Q36642996 | CDKL5 regulates flagellar length and localizes to the base of the flagella in Chlamydomonas |
Q36006599 | CDKL5-Related Disorders: From Clinical Description to Molecular Genetics |
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Q34531736 | Mutations in HECW2 are associated with intellectual disability and epilepsy |
Q37493116 | Mutations in the C-terminus of CDKL5: proceed with caution |
Q35722175 | Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. |
Q89945289 | Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders |
Q54505733 | Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. |
Q59047735 | Rett Syndrome: Coming to Terms with Treatment |
Q28272644 | The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy |
Q35053870 | There is variability in the attainment of developmental milestones in the CDKL5 disorder. |
Q28270699 | What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy |
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