(Q54611510)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

Infantile neuronal ceroid lipofuscinosis

18 January 2020

main subject

0 references

Italy

0 references

Jansky–Bielschowsky disease

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Nicola Specchio

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Federico Zara

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Filippo Maria Santorelli

13

object named as

Filippo M Santorelli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

author name string

Natalia Cannelli

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Denise Cassandrini

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Pasquale Striano

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Lucia Fusco

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Roberto Gaggero

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Roberta Biancheri

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Federico Vigevano

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Claudio Bruno

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Alessandro Simonati

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

publication date

29 March 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

page(s)

111-117

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

The neuronal ceroid-lipofuscinoses

18 January 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-005-0024-Y

Current state of clinical and morphological features in human NCL.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-005-0024-Y

Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-005-0024-Y

The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis

1 reference

12 December 2020

Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study

1 reference

12 December 2020

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum

1 reference

12 December 2020

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

1 reference

12 December 2020

Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.

1 reference

12 December 2020

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

1 reference

12 December 2020

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration

1 reference

12 December 2020

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

1 reference

12 December 2020

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

1 reference

12 December 2020

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

1 reference

12 December 2020

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells

1 reference

12 December 2020

TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?

1 reference

12 December 2020

10.1007/S10048-005-0024-Y

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16570191%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference