Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses (Q37944570)

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

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scholarly article

1 reference

Europe PubMed Central

25 August 2017

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

1 reference

Europe PubMed Central

25 August 2017

Anna-Elina Lehesjoki

2

object named as

Anna-Elina Lehesjoki

1 reference

Europe PubMed Central

25 August 2017

object named as

Sara E Mole

3

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author name string

Maria Kousi

1

1 reference

Europe PubMed Central

25 August 2017

language of work or name

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publication date

16 November 2011

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Europe PubMed Central

25 August 2017

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Europe PubMed Central

25 August 2017

33

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Europe PubMed Central

25 August 2017

1

1 reference

Europe PubMed Central

25 August 2017

42-63

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Europe PubMed Central

25 August 2017

A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Variant late infantile neuronal ceroid lipofuscinosis (CLN6 gene) in Saudi Arabia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Congenital ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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.21624

21 January 2018

Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A second case in the same family of congenital familial cerebral lipoidosis resembling amaurotic family idiocy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

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.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Characterization of endopeptidase activity of tripeptidyl peptidase-I/CLN2 protein which is deficient in classical late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Cloning and sequence analysis of cDNA for human cathepsin D

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Late infantile neuronal ceroid lipofuscinosis: a new mutation in Arabs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The neuronal ceroid-lipofuscinoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

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.21624

21 January 2018

Batten disease: evaluation of CLN3 mutations on protein localization and function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Intracellular trafficking of the JNCL protein CLN3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Congenital amaurotic idiocy--a pathological, histochemical, biochemical and ultrastructural study.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The occurrence in proteins of the tripeptides Asn-X-Ser and Asn-X-Thr and of bound carbohydrate.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Neuronal ceroid lipofuscinoses

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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/10.1002%2FHUMU.21624

21 January 2018

Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Juvenile-onset neuronal ceroid lipofuscinosis with infantile CLN1 mutation and palmitoyl-protein thioesterase deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

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.21624

21 January 2018

Identification of novel lysosomal matrix proteins by proteome analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The first three Russian cases of classical, late-infantile, neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

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.21624

21 January 2018

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

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.21624

21 January 2018

New mutations in the neuronal ceroid lipofuscinosis genes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Spectrum of mutations in the Batten disease gene, CLN3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Catalytic residues and substrate specificity of recombinant human tripeptidyl peptidase I (CLN2).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Serial MRI findings in the Costa Rican variant of neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

CLN3, the protein associated with batten disease: structure, function and localization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Northern epilepsy, a new member of the NCL family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Evolutionary families of metallopeptidases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The spectrum of Jansky-Bielschowsky disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Early juvenile neuronal ceroid-lipofuscinosis or variant Jansky-Bielschowsky disease: diagnostic criteria and nomenclature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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/10.1002%2FHUMU.21624

21 January 2018

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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/10.1002%2FHUMU.21624

21 January 2018

Redesign of the substrate specificity of human cathepsin D: the dominant role of position 287 in the S2 subsite.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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/10.1002%2FHUMU.21624

21 January 2018

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Molecular genetics of the NCLs -- status and perspectives

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

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.21624

21 January 2018

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

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.21624

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.21624

21 January 2018

Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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/10.1002%2FHUMU.21624

21 January 2018

Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Cathepsin D deficiency is associated with a human neurodegenerative disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Isolation of a novel gene underlying batten disease, CLN3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

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.21624

21 January 2018

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Lysosomal targeting of palmitoyl-protein thioesterase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Purification and characterisation of a tripeptidyl aminopeptidase I from rat spleen.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

TRAM, LAG1 and CLN8: members of a novel family of lipid-sensing domains?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Cathepsin D: a cellular roadmap

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Heterogeneity of late-infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Diagnosis of Neuronal Ceroid Lipofuscinosis (Batten Disease) by Electron Microscopy in Peripheral Blood Specimens

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

21 January 2018

Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Kufs disease: clinical features and forms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal testing for late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Apoptosis as the mechanism of neurodegeneration in Batten's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Two crystal structures for cathepsin D: the lysosomal targeting signal and active site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Strategy for mutation detection in CLN3: characterisation of two Finnish mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

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.21624

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.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

A variant of Jansky-Bielschowsky disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Tripeptidyl-peptidase I deficiency in classical late-infantile neuronal ceroid lipofuscinosis brain tissue. Evidence for defective peptidase rather than proteinase activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21624

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.21624

1 reference

Europe PubMed Central

25 August 2017

1 reference

Europe PubMed Central

25 August 2017

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