(Q35194995)

English

Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes

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Europe PubMed Central

PubMed publication ID

7 August 2017

Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes (English)

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

neuronal ceroid lipofuscinosis

1 reference

based on heuristic

inferred from title

Jansky–Bielschowsky disease

1 reference

based on heuristic

inferred from title

author name string

Williams R

1

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Vesa J

2

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Järvelä I

3

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

McKay T

4

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Mitchison H

5

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Hellsten E

6

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Thompson A

7

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Callen D

8

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Sutherland G

9

1 reference

Europe PubMed Central

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7 August 2017

Luna-Battadano D

10

1 reference

Europe PubMed Central

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7 August 2017

language of work or name

0 references

publication date

1 October 1993

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

7 August 2017

53

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Europe PubMed Central

PubMed publication ID

7 August 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

931-935

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682401

28 July 2018

Infantile type of so-called neuronal ceroid-lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682401

28 July 2018

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682401

28 July 2018

Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682401

28 July 2018

Dinucleotide repeat polymorphism (D16S285) on human chromosome 16

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682401

28 July 2018

Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682401

28 July 2018

Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682401

28 July 2018

An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682401

28 July 2018

Early-juvenile Batten's disease--a recognisable sub-group distinct from other forms of Batten's disease. Analysis of 5 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682401

28 July 2018

Neuronal ceroid-lipofuscinoses in childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682401

27 September 2018

A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification

1 reference

https://pubmed.ncbi.nlm.nih.gov/8213822

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A variant of Jansky-Bielschowsky disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8213822

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16

1 reference

https://pubmed.ncbi.nlm.nih.gov/8213822

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/8213822

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/8213822

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation and characterisation of (AC)n microsatellite genetic markers from human chromosome 16

1 reference

https://pubmed.ncbi.nlm.nih.gov/8213822

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fine Genetic Mapping of the Batten Disease Locus (CLN3) by Haplotype Analysis and Demonstration of Allelic Association with Chromosome 16p Microsatellite Loci

1 reference

https://pubmed.ncbi.nlm.nih.gov/8213822

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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