(Q28236247)

1

0 references

M Marchi

2

0 references

F Cogliati

3

0 references

M T Bonati

4

0 references

M Pintaudi

5

0 references

E Veneselli

6

0 references

V Saletti

7

0 references

M Balestrini

8

0 references

B Ben-Zeev

9

0 references

L Larizza

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy

10

0 references

language of work or name

English

0 references

publication date

July 2009

0 references

published in

Neurogenetics

0 references

volume

10

0 references

issue

3

0 references

page(s)

241-50

0 references

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-009-0177-1

Angelman syndrome 2005: updated consensus for diagnostic criteria.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-009-0177-1

MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail

1 reference

12 December 2020

Seizures and electroencephalographic findings in CDKL5 mutations: case report and review

1 reference

12 December 2020

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

1 reference

12 December 2020

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome

1 reference

12 December 2020

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation

1 reference

12 December 2020

Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome

1 reference

12 December 2020

Rett syndrome: clinical review and genetic update

1 reference

12 December 2020

Early onset seizures and Rett-like features associated with mutations in CDKL5.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region

1 reference

12 December 2020

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

1 reference

12 December 2020

Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature

1 reference

12 December 2020

Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation

1 reference

12 December 2020

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

1 reference

12 December 2020

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

1 reference

12 December 2020

Key clinical features to identify girls with CDKL5 mutations

1 reference

12 December 2020

Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects

1 reference

12 December 2020

CDKL5 disruption by t(X;18) in a girl with West syndrome

1 reference

12 December 2020

The three stages of epilepsy in patients with CDKL5 mutations

1 reference

12 December 2020

10.1007/S10048-009-0177-1

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

19241098

1 reference

Consolidated OpenCitations Corpus – April 2017