(Q40958510)

25 September 2017

title

Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses (English)

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25 September 2017

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S E Mole

1

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25 September 2017

language of work or name

English

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publication date

1 January 1996

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Journal of Inherited Metabolic Disease

25 September 2017

published in

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25 September 2017

volume

19

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25 September 2017

issue

3

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25 September 2017

page(s)

269-274

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

25 September 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FBF01799253

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

21 January 2018

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12 December 2020

Neuronal ceroid-lipofuscinoses in childhood

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12 December 2020

Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus

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12 December 2020

Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1.

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12 December 2020

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

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12 December 2020

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

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12 December 2020

Canine hereditary ceroid-lipofuscinosis: evidence for a defect in the carnitine biosynthetic pathway

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12 December 2020

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

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12 December 2020

Sheep and other animals with ceroid-lipofuscinoses: their relevance to Batten disease.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

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12 December 2020

Biosynthesis and metabolism of 4-hydroxynonenal in canine ceroid-lipofuscinosis

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis

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12 December 2020

Molecular cloning and expression of palmitoyl-protein thioesterase

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12 December 2020

Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes

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12 December 2020

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

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12 December 2020

English setter model and juvenile ceroid-lipofuscinosis in man.

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12 December 2020

Dolichol and Dolichyl Phosphate Levels in Brain Tissue from English Setters with Ceroid Lipofuscinosis

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12 December 2020

Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes

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12 December 2020

The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

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12 December 2020

Abnormal acid phosphatases in neuronal ceroid-lipofuscinoses

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1007/BF01799253

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Dimensions Publication ID

25 September 2017

1013231813

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