(Q35876823)

10 August 2017

Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease (English)

1 reference

10 August 2017

0 references

Alfried Kohlschütter

12

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Sara E. Mole

object named as

Sara E Mole

9

0 references

Susan L Cotman

11

object named as

Susan Cotman

1 reference

10 August 2017

Anne-Hélène Lebrun

1

1 reference

10 August 2017

Parisa Moll-Khosrawi

2

1 reference

10 August 2017

Sandra Pohl

3

1 reference

10 August 2017

Georgia Makrypidi

4

1 reference

10 August 2017

Stephan Storch

5

1 reference

10 August 2017

Dirk Kilian

6

1 reference

10 August 2017

Thomas Streichert

7

1 reference

10 August 2017

Benjamin Otto

8

1 reference

10 August 2017

Kurt Ullrich

10

1 reference

10 August 2017

Thomas Braulke

13

1 reference

10 August 2017

Angela Schulz

14

1 reference

10 August 2017

language of work or name

English

0 references

publication date

18 August 2011

1 reference

10 August 2017

1 reference

10 August 2017

17

1 reference

10 August 2017

11-12

1 reference

10 August 2017

1253-1261

1 reference

https://scigraph.springernature.com/pub.10.2119/molmed.2010.00241

10 August 2017

0 references

cites work

Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Dual-specificity phosphatases: critical regulators with diverse cellular targets

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Towards understanding the neuronal ceroid lipofuscinoses.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Diagnosis of the neuronal ceroid lipofuscinoses: an update

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

At the crossroads: diverse roles of early thymocyte transcriptional regulators

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2,500 cases from a single centre.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

The ETS transcription factor Spi-B is required for human plasmacytoid dendritic cell development

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

The PAC-1 dual specificity phosphatase predicts poor outcome in serous ovarian carcinoma

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

PAC1 phosphatase is a transcription target of p53 in signalling apoptosis and growth suppression

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

The neuronal ceroid-lipofuscinoses

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Gene ontology: tool for the unification of biology

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Spectrum of mutations in the Batten disease gene, CLN3

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Four proline-rich sequences of the guanine-nucleotide exchange factor C3G bind with unique specificity to the first Src homology 3 domain of Crk

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

C3G, a guanine nucleotide-releasing protein expressed ubiquitously, binds to the Src homology 3 domains of CRK and GRB2/ASH proteins

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

A Clinical and Psychological Investigation into Juvenile Amaurotic Idiocy in Denmark

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

B and T lymphocytes are affected in lysosomal disorders--an immunoelectron microscopic study

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

A clinical study of 44 patients with juvenile amaurotic family idiocy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Neuronal ceroid lipofuscinoses

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

C3G regulates cortical neuron migration, preplate splitting and radial glial cell attachment.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Altered gene expression in the eye of a mouse model for batten disease.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Early changes in gene expression in two models of Batten disease.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Cardiac pathology in neuronal ceroid lipofuscinoses--a clinicopathologic correlation in three patients.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Induction of the dual specificity phosphatase PAC1 in rat brain following seizure activity.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3321816

Isolation of a novel gene underlying batten disease, CLN3

24 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.2119%2FMOLMED.2010.00241

Juvenile neuronal ceroid lipofuscinosis (JNCL): quantitative description of its clinical variability

31 March 2020

1 reference

Crossref

https://api.crossref.org/works/10.2119%2FMOLMED.2010.00241

[An autopsy case of juvenile neuronal ceroid-lipofuscinosis with dilated cardiomyopathy]

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21863212

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Distribution of cytoplasmic vacuoles in blood T and B lymphocytes in two lysosomal disorders

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21863212

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.2119/MOLMED.2010.00241

1 reference

Dimensions Publication ID

10 August 2017

0 references

1 reference

10 August 2017

PubMed publication ID

21863212

1 reference