(Q34055332)

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A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier

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scholarly article

1 reference

Europe PubMed Central

30 July 2017

A one base pair deletion in the canine ATP13A2 gene causes exon skipping and late-onset neuronal ceroid lipofuscinosis in the Tibetan terrier (English)

1 reference

Europe PubMed Central

30 July 2017

neuronal ceroid lipofuscinosis

1 reference

based on heuristic

inferred from title

Thomas Meitinger

6

1 reference

Europe PubMed Central

30 July 2017

7

object named as

Ottmar Distl

1 reference

Europe PubMed Central

30 July 2017

5

object named as

Peter Lichtner

1 reference

Europe PubMed Central

30 July 2017

author name string

Anne Wöhlke

1

1 reference

Europe PubMed Central

30 July 2017

Ute Philipp

2

1 reference

Europe PubMed Central

30 July 2017

Patricia Bock

3

1 reference

Europe PubMed Central

30 July 2017

Andreas Beineke

4

1 reference

Europe PubMed Central

30 July 2017

publication date

13 October 2011

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

7

1 reference

Europe PubMed Central

30 July 2017

10

1 reference

Europe PubMed Central

30 July 2017

e1002304

1 reference

Europe PubMed Central

30 July 2017

copyright license

Creative Commons Attribution 4.0 International

13 October 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

1 reference

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1 reference

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Genomic features defining exonic variants that modulate splicing

1 reference

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Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

1 reference

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5 July 2018

A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3.

1 reference

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The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

1 reference

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ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

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Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

1 reference

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1 reference

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1 reference

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A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192819

5 July 2018

Evaluation of the canine TPP1 gene as a candidate for neuronal ceroid lipofuscinosis in Tibetan Terrier and Polish Owczarek Nizinny dogs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192819

5 July 2018

The genetic spectrum of human neuronal ceroid-lipofuscinoses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192819

5 July 2018

A 1-Mb resolution radiation hybrid map of the canine genome

1 reference

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5 July 2018

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

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5 July 2018

Lysosomal storage diseases of animals: an essay in comparative pathology

1 reference

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5 July 2018

Tibetan terrier model of canine ceroid lipofuscinosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3192819

5 July 2018

A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.

1 reference

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21 January 2018

Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene.

1 reference

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21 January 2018

A mutation in the CLN8 gene in English Setter dogs with neuronal ceroid-lipofuscinosis

1 reference

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21 January 2018

Characterization of candidate genes for neuronal ceroid lipofuscinosis in dog.

1 reference

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21 January 2018

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002304

21 January 2018

Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma.

1 reference

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Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

1 reference

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21 January 2018

The canine CTSD gene as a candidate for late-onset neuronal ceroid lipofuscinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22022275

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1371/JOURNAL.PGEN.1002304

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

1 reference

Europe PubMed Central

30 July 2017

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