(Q57588310)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17129765%20AND%20SRC:MED&resulttype=core&format=json

22 December 2019

title

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations (English)

1 reference

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22 December 2019

1 reference

2

1 reference

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22 December 2019

Andrea Rossi

7

1 reference

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22 December 2019

Enrico Bertini

12

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22 December 2019

Federico Zara

13

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22 December 2019

Filippo Maria Santorelli

14

object named as

Filippo M Santorelli

1 reference

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22 December 2019

author name string

Pasquale Striano

1

1 reference

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22 December 2019

Roberta Biancheri

3

1 reference

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22 December 2019

Natalia Cannelli

4

1 reference

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22 December 2019

Alessandro Simonati

5

1 reference

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22 December 2019

Denise Cassandrini

6

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22 December 2019

Claudio Bruno

8

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22 December 2019

Lucia Fusco

9

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22 December 2019

Roberto Gaggero

10

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22 December 2019

Federico Vigevano

11

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22 December 2019

Salvatore Striano

15

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22 December 2019

publication date

28 November 2006

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22 December 2019

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22 December 2019

volume

10

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22 December 2019

issue

1

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22 December 2019

page(s)

187-191

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Pheno/genotypic correlations of neuronal ceroid lipofuscinoses

22 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.10.009

The genetic spectrum of human neuronal ceroid-lipofuscinoses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.10.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.10.009

Northern Epilepsy Syndrome: Clinical Course and the Effect of Medication on Seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.10.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.10.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.10.009

MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.10.009

Abnormalities of developing white matter in lysosomal storage diseases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.10.009

Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.10.009

Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.10.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.10.009

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.10.009

Mass spectrometric analysis reveals changes in phospholipid, neutral sphingolipid and sulfatide molecular species in progressive epilepsy with mental retardation, EPMR, brain: a case study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.10.009

The neuronal ceroid lipofuscinosis Cln8 gene expression is developmentally regulated in mouse brain and up-regulated in the hippocampal kindling model of epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2006.10.009

10.1016/J.YEBEH.2006.10.009

7 January 2021

Identifiers

DOI

1 reference

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22 December 2019

1 reference