(Q35148890)

English

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

0 references

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

disability affecting intellectual abilities

1 reference

based on heuristic

inferred from title

Andres Moreno-De-Luca

1

object named as

Andres Moreno-De-Luca

0 references

Christa Lese Martin

9

object named as

Christa L Martin

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

David H. Ledbetter

8

object named as

David H Ledbetter

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

author name string

Andres Moreno-De-Luca

1

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Sandra L Helmers

2

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Hui Mao

3

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Thomas G Burns

4

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Amanda M A Melton

5

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Karen R Schmidt

6

1 reference

Europe PubMed Central

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6 August 2017

Paul M Fernhoff

7

1 reference

Europe PubMed Central

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6 August 2017

language of work or name

0 references

publication date

23 October 2010

1 reference

Europe PubMed Central

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6 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

48

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Europe PubMed Central

PubMed publication ID

6 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

141-144

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

28 July 2018

Sorting of the Alzheimer's disease amyloid precursor protein mediated by the AP-4 complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

28 July 2018

Congenital anomalies in children with cerebral palsy: a population-based record linkage study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

28 July 2018

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

28 July 2018

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

28 July 2018

AP-4, a novel protein complex related to clathrin adaptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

28 July 2018

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

28 July 2018

Methylation-specific PCR simplifies imprinting analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

28 July 2018

Parental age, genetic mutation, and cerebral palsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

28 July 2018

Cerebral palsy in multiple births in Western Australia: genetic aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

28 July 2018

Cerebral palsy in Saudi Arabia: a case-control study of risk factors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

28 July 2018

Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

27 September 2018

Cerebral palsy: classification and epidemiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

27 September 2018

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

27 September 2018

Accumulation of AMPA receptors in autophagosomes in neuronal axons lacking adaptor protein AP-4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

27 September 2018

High familial risks for cerebral palsy implicate partial heritable aetiology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

27 September 2018

SPPL2a and SPPL2b promote intramembrane proteolysis of TNFalpha in activated dendritic cells to trigger IL-12 production

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

27 September 2018

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

27 September 2018

Estimated frequency of genetic and nongenetic causes of congenital idiopathic cerebral palsy in west Sweden.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

27 September 2018

Adaptor protein complex-4 (AP-4) is expressed in the central nervous system neurons and interacts with glutamate receptor delta2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3150730

27 September 2018

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

1 reference

https://pubmed.ncbi.nlm.nih.gov/20972249

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2010.082263

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

ResearchGate publication ID

0 references

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