(Q40870662)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9458173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

The neuronal ceroid-lipofuscinoses. Recent advances (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9458173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

The Neuronal Ceroid‐Lipofuscinoses. Recent Advances (English)

1 reference

Crossref

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

5 December 2024

H. H. Goebel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9458173

5 December 2024

J. D. Sharp

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9458173

5 December 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9458173

5 December 2024

publication date

1 January 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9458173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

January 1998

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9458173

full work available at URL

5 December 2024

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8098143

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9458173

https://europepmc.org/articles/PMC8098143

5 December 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9458173

https://europepmc.org/articles/PMC8098143?pdf=render

5 December 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9458173

https://doi.org/10.1111/j.1750-3639.1998.tb00142.x

5 December 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9458173

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1750-3639.1998.tb00142.x

5 December 2024

1 reference

Crossref

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1750-3639.1998.tb00142.x

5 December 2024

1 reference

Crossref

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

5 December 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9458173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9458173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9458173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

151-162

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9458173%20AND%20SRC:MED&resulttype=core&format=json

Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature Schnauzer dogs with ceroid-lipofuscinosis

9 November 2019

cites work

1 reference

9 November 2024

https://opencitations.net/index/api/v1/citations/10.1023/A:1005365709340

A dominant form of neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease)

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

B and T lymphocytes are affected in lysosomal disorders--an immunoelectron microscopic study

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Adult ceroid-lipofuscinosis (Kufs' disease) in two brothers. Retinal and visceral storage in one; diagnostic muscle biopsy in the other

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Classification of the neuronal ceroid-lipofuscinoses: expansion of the atypical forms

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Batten disease (Spielmeyer-Sjøgren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

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

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis (Batten disease).

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

The sequence of the major protein stored in ovine ceroid lipofuscinosis is identical with that of the dicyclohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

The protracted form of juvenile neuronal ceroid-lipofuscinosis

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Protracted juvenile neuronal ceroid-lipofuscinosis

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis: a combined electron microscopic and molecular genetic approach

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Neuronal ceroid-lipofuscinosis--late-infantile or Jansky-Bielschowsky type--revisited

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis)

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Immunological studies on sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD).

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid lipofuscinosis

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

A model for Batten disease protein CLN3: functional implications from homology and mutations

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Rapid diagnostic test for the major mutation underlying Batten disease

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Ovine ceroid-lipofuscinosis: a model of Batten's disease

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

The neuronal ceroid-lipofuscinoses (Batten disease): comparative aspects

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

The ovine model of neuronal ceroid lipofuscinosis (NCL): its contribution to understanding the pathogenesis of Batten disease

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Characterization of T-cell subclasses and NK-cells in lysosomal disorders by immuno-electron microscopy

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Normal superoxide radical production in the neuronal ceroid-lipofuscinoses.

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

The monocyte-macrophage system is affected in lysosomal storage diseases: an immunoelectron microscopic study

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Leukocytes in neuronal ceroid-lipofuscinoses: function and apoptosis

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Canine ceroid-lipofuscinosis-a model for human neuronal ceroid-lipofuscinosis and aging

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Early-juvenile Batten's disease--a recognisable sub-group distinct from other forms of Batten's disease. Analysis of 5 patients

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

A form of juvenile Batten disease with granular osmiophilic deposits

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Evidence that lysosomal storage of proteolipids is a cell autonomous process in the motor neuron degeneration (mnd) mouse, a model of neuronal ceroid lipofuscinosis

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Characterization of the expressed genes for subunit c of mitochondrial ATP synthase in sheep with ceroid lipofuscinosis

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Fine Genetic Mapping of the Batten Disease Locus (CLN3) by Haplotype Analysis and Demonstration of Allelic Association with Chromosome 16p Microsatellite Loci

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Genetic Mapping of the Batten Disease Locus (CLN3) to the Interval D16S288-D16S383 by Analysis of Haplotypes and Allelic Association

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Prenatal diagnosis of Batten's disease

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Spectrum of mutations in the Batten disease gene, CLN3

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

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

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Different patterns of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease)

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

The neuronal ceroid lipofuscinoses: unfolding the genetic defect

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

A variant of Jansky-Bielschowsky disease

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

The spectrum of Jansky-Bielschowsky disease.

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

cDNA and genomic cloning of human palmitoyl-protein thioesterase (PPT), the enzyme defective in infantile neuronal ceroid lipofuscinosis

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Exclusion mapping of classical late infantile neuronal ceroid lipofuscinosis (Jansky-Bielschowsky disease, CLN2)

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

DNA diagnosis and identification of carriers of infantile and juvenile neuronal ceroid lipofuscinoses

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Isolation of a novel gene underlying batten disease, CLN3

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: an immunological study

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Sphingolipid activator proteins (SAPs) in neuronal ceroid lipofuscinoses (NCL).

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

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

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Adult ceroid-lipofuscinosis: diagnostic value of biopsies and of neurophysiological investigations

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

Immunocytochemical studies in the ceroid-lipofuscinoses (Batten disease) using antibodies to subunit c of mitochondrial ATP synthase

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

5 December 2024

1 reference

https://api.crossref.org/works/10.1111/J.1750-3639.1998.TB00142.X

5 December 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9458173%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9458173

5 December 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9458173%20AND%20SRC:MED&resulttype=core&format=json