(Q34209567)

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

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18283468%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

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

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18283468%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Lenka Dvořáková

2

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3 January 2020

Hana Vlášková

4

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3 January 2020

Rastislav Druga

6

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Europe PubMed Central

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3 January 2020

Helena Poupětová

7

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3 January 2020

Eva Košťálová

8

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3 January 2020

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Milan Elleder

1

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3 January 2020

Larisa Stolnaja

3

1 reference

Europe PubMed Central

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3 January 2020

Helena Hůlková

5

1 reference

Europe PubMed Central

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3 January 2020

Josef Mikulástík

9

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3 January 2020

publication date

19 February 2008

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3 January 2020

Acta Neuropathologica

1 reference

Europe PubMed Central

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3 January 2020

116

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3 January 2020

1

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3 January 2020

119-124

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Europe PubMed Central

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3 January 2020

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

5 July 2018

Cathepsin D deficiency is associated with a human neurodegenerative disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

5 July 2018

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

5 July 2018

The intracellular location and function of proteins of neuronal ceroid lipofuscinoses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

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=2956886

5 July 2018

A model of tripeptidyl-peptidase I (CLN2), a ubiquitous and highly conserved member of the sedolisin family of serine-carboxyl peptidases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

5 July 2018

Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

5 July 2018

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

5 July 2018

Neuronal ceroid lipofuscinoses: classification and diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

5 July 2018

Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

5 July 2018

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

5 July 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

5 July 2018

Late infantile neuronal storage disease with curvilinear bodies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

5 July 2018

Late infantile amaurotic idiocy (LIAI). Anatomochemical report of a case

1 reference

https://api.crossref.org/works/10.1007%2FS00401-008-0349-3

21 January 2018

Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

28 October 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

28 October 2018

Incidence of neuronal perikaryal spheroids in neuronal ceroid lipofuscinoses (Batten disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956886

28 October 2018

Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: distinct patterns of storage deposition, neurodegeneration and glial activation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18283468

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/18283468

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A histochemical and ultrastructural study of stored material in neuronal ceroid lipofuscinosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/18283468

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00401-008-0349-3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18283468%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Dimensions Publication ID

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1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18283468%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18283468%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

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