Neuronal ceroid lipofuscinoses: classification and diagnosis (Q34238591)

31 July 2017

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title

Neuronal ceroid lipofuscinoses: classification and diagnosis (English)

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31 July 2017

Wisniewski KE

1

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31 July 2017

Kida E

2

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31 July 2017

Golabek AA

3

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31 July 2017

Kaczmarski W

4

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31 July 2017

Connell F

5

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31 July 2017

Zhong N

6

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31 July 2017

language of work or name

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1 January 2001

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31 July 2017

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31 July 2017

45

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31 July 2017

1-34

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Kufs' disease: a critical reappraisal

31 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

The adult and a new late adult forms of neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Fetal tissue involvement in the late infantile type of neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the 'Prague NCL group'.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

The protracted form of juvenile neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Pigment variant of neuronal ceroid-lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Infantile type of so-called neuronal ceroid-lipofuscinosis. Histological and electron microscopic studies

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Isolation of a novel gene underlying batten disease, CLN3

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

A novel assay for lysosomal pepstatin-insensitive proteinase and its application for the diagnosis of late-infantile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

A form of juvenile Batten disease with granular osmiophilic deposits.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Bone marrow transplantation in late infantile Batten disease and juvenile Batten disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Ultrastructural study of the skin in a case of juvenile ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits [published erratum appears in Hum Mol Genet 1998 Apr;7(4):765]

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Molecular basis of the neuronal ceroid lipofuscinoses: Mutations inCLN1,CLN2,CLN3, andCLN5

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Spectrum of mutations in the Batten disease gene, CLN3

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

A variant of Jansky-Bielschowsky disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

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/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

The Molecular Basis of GROD-Storing Neuronal Ceroid Lipofuscinoses in Scotland

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Childhood neuronal ceroid-lipofuscinoses in Argentina.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Neuronal ceroid lipofuscinoses in Scandinavia. Epidemiology and clinical pictures

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Palmitoyl-protein thioesterase deficiency in fibroblasts of individuals with infantile neuronal ceroid lipofuscinosis and I-cell disease

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinoses: Review of data and observations

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Increased urine concentration of subunit c of mitochondrial ATP synthase in neuronal ceroid lipofuscinoses patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Rapid detection of subunit c of mitochondrial ATP synthase in urine as a diagnostic screening method for neuronal ceroid-lipofuscinoses.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Studies of atypical JNCL suggest overlapping with other NCL forms.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Neuronal ceroid lipofuscinoses: research update

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https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

The Newfoundland aggregate of neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Enzymatic and molecular biological analysis of palmitoyl protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Neuronal ceroid-lipofuscinoses in childhood

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2945002-4

7 January 2021

10.1016/S0065-2660(01)45002-4

Identifiers

DOI

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31 July 2017

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