(Q46145781)

English

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

scientific article published on 11 March 2013

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scholarly article

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/23418007

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). (English)

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/23418007

autosomal recessive spinocerebellar ataxia 7

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neuronal ceroid lipofuscinosis

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based on heuristic

inferred from title

spinocerebellar ataxia

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based on heuristic

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neuronal ceroid lipofuscinosis 2

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based on heuristic

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Robert M Verdijk

10

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Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/23418007

object named as

Yu Sun

1

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object named as

Ben Oostra

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Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/23418007

author name string

Rowida Almomani

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Europe PubMed Central

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http://europepmc.org/abstract/MED/23418007

Guido J Breedveld

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http://europepmc.org/abstract/MED/23418007

Gijs W E Santen

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http://europepmc.org/abstract/MED/23418007

Emmelien Aten

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Europe PubMed Central

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http://europepmc.org/abstract/MED/23418007

Dirk J Lefeber

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http://europepmc.org/abstract/MED/23418007

Jorrit I Hoff

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Europe PubMed Central

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http://europepmc.org/abstract/MED/23418007

Esther Brusse

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http://europepmc.org/abstract/MED/23418007

Frans W Verheijen

9

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http://europepmc.org/abstract/MED/23418007

Marjolein Kriek

11

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http://europepmc.org/abstract/MED/23418007

Martijn H Breuning

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http://europepmc.org/abstract/MED/23418007

Monique Losekoot

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http://europepmc.org/abstract/MED/23418007

Johan T den Dunnen

15

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http://europepmc.org/abstract/MED/23418007

Bart P van de Warrenburg

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http://europepmc.org/abstract/MED/23418007

Anneke J A Maat-Kievit

17

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http://europepmc.org/abstract/MED/23418007

publication date

11 March 2013

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Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/23418007

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Europe PubMed Central

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http://europepmc.org/abstract/MED/23418007

34

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706-713

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http://europepmc.org/abstract/MED/23418007

CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

MouseFinder: Candidate disease genes from mouse phenotype data

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Crystal Structure and Autoactivation Pathway of the Precursor Form of Human Tripeptidyl-peptidase 1, the Enzyme Deficient in Late Infantile Ceroid Lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Distribution of tripeptidyl peptidase I in human tissues under normal and pathological conditions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

The Sequence Alignment/Map format and SAMtools

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

The ever expanding spinocerebellar ataxias. Editorial.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

The expression of late infantile neuronal ceroid lipofuscinosis (CLN2) gene product in human brains.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Recent advances in the genetics of cerebellar ataxias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

A CLN2 gene nonsense mutation is associated with severe caudate atrophy and dystonia in LINCL.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Autosomal recessive cerebellar ataxias: the current state of affairs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

21 January 2018

Distribution and development of CLN2 protein, the late-infantile neuronal ceroid lipofuscinosis gene product.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuronal ceroid-lipofuscinoses in childhood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

7 January 2021

based on heuristic

inferred from DOI database lookup

Ultrastructural and electrophysiological correlation of the genotypes of NCL

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22292

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.22292

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/23418007

1 reference

Europe PubMed Central

19 December 2017

http://europepmc.org/abstract/MED/23418007

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