Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease (Q35876823)

10 August 2017

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

1 reference

10 August 2017

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Alfried Kohlschütter

12

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Sara E. Mole

object named as

Sara E Mole

9

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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

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10 August 2017

Stephan Storch

5

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10 August 2017

Dirk Kilian

6

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10 August 2017

Thomas Streichert

7

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10 August 2017

Benjamin Otto

8

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10 August 2017

Kurt Ullrich

10

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10 August 2017

Thomas Braulke

13

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10 August 2017

Angela Schulz

14

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10 August 2017

language of work or name

English

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publication date

18 August 2011

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10 August 2017

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10 August 2017

17

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10 August 2017

1253-1261

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10 August 2017

11-12

1 reference

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

10 August 2017

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cites work

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

1 reference

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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

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At the crossroads: diverse roles of early thymocyte transcriptional regulators

11 July 2018

1 reference

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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

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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

1 reference