(Q41927354)

14 October 2017

title

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

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neuronal ceroid lipofuscinosis

14 October 2017

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6

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14 October 2017

Elleder M

1

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14 October 2017

Franc J

2

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14 October 2017

Kraus J

3

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14 October 2017

Nevsímalová S

4

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14 October 2017

Sixtová K

5

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14 October 2017

publication date

1 January 1997

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European Journal of Paediatric Neurology

14 October 2017

published in

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14 October 2017

volume

1

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14 October 2017

issue

4

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14 October 2017

page(s)

109-114

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Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses

14 October 2017

cites work

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

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7 January 2021

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

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7 January 2021

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7 January 2021

The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease

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7 January 2021

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

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7 January 2021

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

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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 Italy: an epidemiological study

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7 January 2021

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

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7 January 2021

Neuronal ceroid-lipofuscinosis: a clinical and morphological study of 19 patients.

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https://api.crossref.org/works/10.1016%2FS1090-3798%2897%2980041-4

7 January 2021

A variant of Jansky-Bielschowsky disease

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https://api.crossref.org/works/10.1016%2FS1090-3798%2897%2980041-4

7 January 2021

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

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

10.1016/S1090-3798(97)80041-4

Identifiers

DOI

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14 October 2017

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