An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation (Q34315263)

1 August 2017

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation (English)

1 reference

neuronal ceroid lipofuscinosis

1 August 2017

1 reference

4

Susan L Cotman

1 reference

1 August 2017

John F Staropoli

1

1 reference

1 August 2017

Winnie Xin

series ordinal

2

1 reference

1 August 2017

Rosemary Barone

series ordinal

3

1 reference

1 August 2017

Katherine B Sims

series ordinal

5

1 reference

1 August 2017

24 June 2012

1 reference

1 August 2017

1 reference

1 August 2017

13

1 reference

1 August 2017

50

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-13-50

1 August 2017

0 references

cites work

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

Bestrophins and retinopathies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

The mitochondrial DNA polymerase in health and disease.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

Premature ageing in mice expressing defective mitochondrial DNA polymerase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

Experimental models of NCL: the yeast model

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3443422

Neuronal ceroid lipofuscinoses

6 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-50

Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-50

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-50

Phenotypic variations in 3 children with POLG1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-50

Involvement of the mitochondrial compartment in human NCL fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-50

Early-onset familial parkinsonism due to POLG mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-50

Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)

21 January 2018

1 reference

12 December 2020

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism

1 reference

12 December 2020

DNA deletions and clonal mutations drive premature aging in mitochondrial mutator mice

1 reference

12 December 2020

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-13-50

1 reference

Dimensions Publication ID

1 August 2017

1001828490

0 references

Fatcat ID

release_d73hqteznbaw3he4ilxeebnbzu

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/d73hqteznbaw3he4ilxeebnbzu

24 November 2022

mapped directly with Wikidata item

PMCID

3443422

1 reference

1 August 2017

1 reference