Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging (Q28237863)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277732%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277732%20AND%20SRC:MED&resulttype=core&format=json

neuronal ceroid lipofuscinosis

23 January 2020

main subject

1 reference

1

1 reference

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23 January 2020

author name string

Z N Al-Hassnan

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277732%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

M Aldosari

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277732%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

F S Alkuraya

series ordinal

4

1 reference

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23 January 2020

language of work or name

English

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publication date

10 March 2009

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23 January 2020

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23 January 2020

volume

10

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23 January 2020

issue

4

1 reference

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23 January 2020

page(s)

307-311

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10048-009-0185-1

23 January 2020

exact match

0 references

cites work

The neuronal ceroid-lipofuscinoses: from past to present

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-009-0185-1

Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

21 January 2018

1 reference

12 December 2020

Neuronal ceroid lipofuscinoses (NCL)

1 reference

12 December 2020

Transition-state structure as a unifying basis in protein-folding mechanisms: contact order, chain topology, stability, and the extended nucleus mechanism

1 reference

12 December 2020

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

12 December 2020

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.

1 reference

12 December 2020

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

1 reference

12 December 2020

10.1007/S10048-009-0185-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19277732%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

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