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Classification and natural history of the neuronal ceroid lipofuscinoses
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title
Classification and natural history of the neuronal ceroid lipofuscinoses
(English)
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PubMed
author name string
J. W. Mink
series ordinal
1
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E. F. Augustine
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2
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H. R. Adams
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3
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F. J. Marshall
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4
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J. M. Kwon
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5
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language of work or name
English
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publication date
September 2013
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published in
Journal of Child Neurology
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volume
28
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PubMed
issue
9
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page(s)
1101-5
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cites work
Females experience a more severe disease course in Batten disease
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
7 April 2017
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
7 April 2017
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
7 April 2017
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
7 April 2017
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
7 April 2017
Methodology of clinical research in rare diseases: development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates
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stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Do females with juvenile ceroid lipofuscinosis (Batten disease) have a more severe disease course? The Danish experience
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Cathepsin D deficiency is associated with a human neurodegenerative disorder
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stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
The neuronal ceroid-lipofuscinoses
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations
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stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Northern epilepsy, a new member of the NCL family
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Infantile type of so-called neuronal ceroid-lipofuscinosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Infantile type of so-called neuronal ceroid-lipofuscinosis. 2. Morphological and biochemical studies
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Kufs' disease: a critical reappraisal
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Kufs disease: clinical features and forms
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stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 September 2017
Childhood neuronal ceroid-lipofuscinoses in Argentina.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
31 May 2018
A dominant form of neuronal ceroid-lipofuscinosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
31 May 2018
Clinical, morphological, and biochemical investigations on a patient with an unusual form of neuronal ceroid-lipofuscinosis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
31 May 2018
Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1177%2F0883073813494268
retrieved
21 January 2018
Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1177%2F0883073813494268
retrieved
21 January 2018
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1177%2F0883073813494268
retrieved
21 January 2018
Glycosaminoglycans modulate activation, activity, and stability of tripeptidyl-peptidase I in vitro and in vivo
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1177%2F0883073813494268
retrieved
21 January 2018
Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3979348
retrieved
28 November 2018
A variant of Jansky-Bielschowsky disease
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23838030
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23838030
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease)
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/23838030
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
über familiäre amaurotische Idiotie und verwandte Krankheitsbilder
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Crossref
reference URL
https://api.crossref.org/works/10.1177%2F0883073813494268
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1177/0883073813494268
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2272283
OpenCitations bibliographic resource ID
2272283
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2272283
PMC publication ID
3979348
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2272283
PubMed publication ID
23838030
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
2272283
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