(Q34937745)

25496299

5 August 2017

title

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency (English)

1 reference

5 August 2017

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25496299%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

10

Shahid Mahmood Baig

1 reference

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11 June 2020

author name string

Muhammad Jameel

1

1 reference

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11 June 2020

Muhammad Tariq

3

1 reference

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11 June 2020

Abubakar Moawia

4

1 reference

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11 June 2020

Naveed Altaf Malik

5

1 reference

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11 June 2020

Syeda Seema Waseem

6

1 reference

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11 June 2020

Uzma Abdullah

7

1 reference

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11 June 2020

Tahir Naeem Khan

8

1 reference

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11 June 2020

Raili Raininko

9

1 reference

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11 June 2020

Niklas Dahl

11

1 reference

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11 June 2020

publication date

14 December 2014

1 reference

5 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25496299%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

15

1 reference

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11 June 2020

page(s)

133

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25496299%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

11 June 2020

copyright license

start time

1 December 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4292821

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4292821

Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4292821

Incomplete nonsense-mediated decay facilitates detection of a multi-exonic deletion mutation in SGCE.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4292821

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4292821

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4292821

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4292821

Cerebral palsy: classification and epidemiology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4292821

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4292821

A systematic review of the role of intrapartum hypoxia-ischemia in the causation of neonatal encephalopathy.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4292821

Cerebral palsy and congenital malformations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4292821

Longins and their longin domains: regulated SNAREs and multifunctional SNARE regulators

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4292821

Temporal and demographic trends in cerebral palsy--fact and fiction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4292821

A structural explanation for the recognition of tyrosine-based endocytotic signals

8 July 2018

1 reference

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Cerebral palsy in multiple births in Western Australia: genetic aspects

8 July 2018

1 reference

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

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0133-2

Is cerebral palsy associated with birth defects other than cerebral defects?

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0133-2

Polarized sorting of AMPA receptors to the somatodendritic domain is regulated by adaptor protein AP-4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0133-2

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS12881-014-0133-2

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25496299

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25496299

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S12881-014-0133-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25496299%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25496299%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

25496299

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25496299%20AND%20SRC:MED&resulttype=core&format=json