(Q71902923)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8969009%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

review article

1 reference

title

The neuronal ceroid-lipofuscinoses (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8969009%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

author name string

H H Goebel

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8969009%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

publication date

1 December 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8969009%20AND%20SRC:MED&resulttype=core&format=json

Seminars in pediatric neurology

22 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8969009%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

volume

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8969009%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8969009%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

page(s)

270-278

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8969009%20AND%20SRC:MED&resulttype=core&format=json

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

22 October 2019

cites work

1 reference

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7 January 2021

Cytosome Morphology and Distribution of Generalized Ceroidlipofuscinosis in a Twenty-Eight Month Old Boy with Normal Myeloperoxidase Activity

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7 January 2021

Bibliography on ceroid-lipofuscinoses.

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7 January 2021

Bibliography on ceroid-lipofuscinoses, II.

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7 January 2021

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

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7 January 2021

Neuronal ceroid-lipofuscinoses in childhood

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7 January 2021

Childhood neuronal ceroid-lipofuscinoses in Argentina.

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7 January 2021

Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study

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7 January 2021

Comparative biology of the neuronal ceroid-lipofuscinoses (NCL): an overview.

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7 January 2021

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

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7 January 2021

Protracted juvenile neuronal ceroid-lipofuscinosis

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7 January 2021

A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Human forms of neuronal ceroid-lipofuscinosis (Batten disease): consensus on diagnostic criteria, Hamburg 1992.

1 reference

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7 January 2021

Infantile neuronal ceroid-lipofuscinosis (INCL): diagnostic criteria.

1 reference

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7 January 2021

Observations in institutionalized neuronal ceroid-lipofuscinosis patients with special reference to involuntary movements

1 reference

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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

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7 January 2021

The protracted form of juvenile neuronal ceroid-lipofuscinosis

1 reference

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7 January 2021

Juvenile neuronal ceroid lipofuscinosis (JNCL): quantitative description of its clinical variability

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Loss of pigment-laden stellate cells: a severe alteration of the isocortex in juvenile neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980031-3

7 January 2021

Pigmentoarchitectonic pathology of the isocortex in juvenile neuronal ceroid-lipofuscinosis: Axonal enlargements in layer IIIab and cell loss in layer V

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980031-3

7 January 2021

Pigment-filled appendages of the small spiny neurons: a severe pathological change of the striatum in neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980031-3

7 January 2021

The fine structure of the retina in neuronal ceroid-lipofuscinosis.

1 reference

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7 January 2021

An ultrastructural study of the retina in the Jansky-Bielschowsky type of neuronal ceroid-lipofuscinosis

1 reference

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7 January 2021

Ultrastructural studies of the retina in infantile neuronal ceroid-lipofuscinosis

1 reference

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7 January 2021

Tissue and cellular distribution of subunit c of ATP synthase in Batten disease (neuronal ceroid-lipofuscinosis)

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980031-3

7 January 2021

Specific delay of degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease)

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980031-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980031-3

7 January 2021

The neuronal ceroid-lipofuscinoses

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980031-3

7 January 2021

Refined assignment of the infantile neuronal ceroid-lipofuscinosis (INCL) locus at 1p32 and the current status of prenatal and carrier diagnostics

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980031-3

7 January 2021

A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980031-3

7 January 2021

Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis: a combined electron microscopic and molecular genetic approach

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Isolation of a novel gene underlying batten disease, CLN3

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis, INCL: morphological aspects.

1 reference

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7 January 2021

Prenatal diagnosis of neuronal ceroid-lipofuscinoses

1 reference

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7 January 2021

Ultrastructural studies as a method of prenatal diagnosis of neuronal ceroid-lipofuscinosis

1 reference

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7 January 2021

Morphological approaches to the prenatal diagnosis of late-infantile and juvenile Batten disease

1 reference

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7 January 2021

English setter model and juvenile ceroid-lipofuscinosis in man.

1 reference

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7 January 2021

Bone marrow transplantation in Batten disease (neuronal ceroid-lipofuscinosis). Will it work? Preliminary studies on coculture experiments and on bone marrow transplant in late infantile Batten disease

1 reference

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7 January 2021

Psychological symptoms and sleep disturbances in neuronal ceroid-lipofuscinoses (NCL).

1 reference

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7 January 2021

Seizures, depression and dementia in teenagers with Batten disease

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980031-3

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%2FS1071-9091%2896%2980031-3

7 January 2021

Round-table discussion of animal models of ceroid-lipofuscinosis (Batten disease)

1 reference

https://api.crossref.org/works/10.1016%2FS1071-9091%2896%2980031-3

7 January 2021

10.1016/S1071-9091(96)80031-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8969009%20AND%20SRC:MED&resulttype=core&format=json

22 October 2019

1 reference