(Q34306360)

1 August 2017

title

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

1 reference

Infantile neuronal ceroid lipofuscinosis

1 August 2017

main subject

0 references

Jansky–Bielschowsky disease

1 reference

13

Anna-Elina Lehesjoki

1 reference

1 August 2017

Sara E Mole

12

0 references

Saara Tegelberg

3

object named as

Saara Tegelberg

1 reference

1 August 2017

Susanna Ranta

1

1 reference

1 August 2017

Meral Topcu

2

1 reference

1 August 2017

Hüseyin Tan

4

1 reference

1 August 2017

Alp Ustübütün

5

1 reference

1 August 2017

Isil Saatci

6

1 reference

1 August 2017

Andreas Dufke

7

1 reference

1 August 2017

Herbert Enders

8

1 reference

1 August 2017

Keith Pohl

9

1 reference

1 August 2017

Yves Alembik

10

1 reference

1 August 2017

Wayne A Mitchell

11

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 April 2004

1 reference

1 August 2017

1 reference

1 August 2017

volume

23

1 reference

1 August 2017

issue

4

1 reference

1 August 2017

page(s)

300-305

1 reference

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20018

Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20018

High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20018

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20018

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20018

A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20018

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20018

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20018

7 January 2021

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20018

7 January 2021

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20018

7 January 2021

inferred from DOI database lookup

Identifiers

1 reference

https://api.fatcat.wiki/v0/release/e76pewryqzhoddi2w2tkk3pc3m

30 July 2022

mapped directly with Wikidata item

Fatcat ID

release_e76pewryqzhoddi2w2tkk3pc3m

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/e76pewryqzhoddi2w2tkk3pc3m

30 July 2022

mapped directly with Wikidata item

https://api.fatcat.wiki/v0/release/e76pewryqzhoddi2w2tkk3pc3m

1 reference

30 July 2022