Current state of clinical and morphological features in human NCL. (Q35681059)

9 August 2017

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title

Current state of clinical and morphological features in human NCL. (English)

1 reference

9 August 2017

Hans H Goebel

1

1 reference

PubMed ID

14997938

9 August 2017

Krystyna E Wisniewski

series ordinal

2

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PubMed ID

14997938

9 August 2017

language of work or name

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1 January 2004

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9 August 2017

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9 August 2017

14

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9 August 2017

1

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9 August 2017

61-69

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Kufs' disease: a critical reappraisal

9 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

Lysosomal degradation of cholecystokinin-(29-33)-amide in mouse brain is dependent on tripeptidyl peptidase-I: implications for the degradation and storage of peptides in classical late-infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

On the ultrastructural diversity and essence of residual bodies in neuronal ceroid-lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

Disruption of PPT1 or PPT2 causes neuronal ceroid lipofuscinosis in knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

The neuronal ceroid-lipofuscinoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

A form of juvenile Batten disease with granular osmiophilic deposits.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

Hematopoietic stem cell transplantation in infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

Altered amyloid beta-protein precursor processing in brains of patients with neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

Topographic heterogeneity of amyloid B-protein epitopes in brains with various forms of neuronal ceroid lipofuscinoses suggesting defective processing of amyloid precursor protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2004.TB00499.X

10.1111/J.1750-3639.2004.TB00499.X

21 January 2018

Identifiers

DOI

1 reference

9 August 2017

1 reference

PubMed ID

14997938