(Q51803368)

12 April 2018

title

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

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12 April 2018

juvenile neuronal ceroid lipofuscinosis

main subject

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author name string

María-Socorro Pérez-Poyato

1

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12 April 2018

Montserrat Milà Recansens

2

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Isidre Ferrer Abizanda

3

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Raquel Montero Sánchez

4

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12 April 2018

Laia Rodríguez-Revenga

5

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Victoria Cusí Sánchez

6

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M Mar García González

7

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Rosario Domingo Jiménez

8

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Rafael Camino León

9

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12 April 2018

Ramón Velázquez Fragua

10

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Antonio Martínez-Bermejo

11

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Mercè Pineda Marfà

12

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12 April 2018

publication date

16 April 2011

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12 April 2018

Journal of Inherited Metabolic Disease

published in

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12 April 2018

volume

34

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issue

5

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12 April 2018

page(s)

1083-1093

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12 April 2018

https://scigraph.springernature.com/pub.10.1007/s10545-011-9323-7

exact match

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cites work

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

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Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses

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The clinical and genetic epidemiology of neuronal ceroid lipofuscinosis in Newfoundland

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

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Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis

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Studies of atypical JNCL suggest overlapping with other NCL forms.

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Neuronal ceroid lipofuscinoses (NCL)

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

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12 December 2020

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12 December 2020

The neuronal ceroid-lipofuscinoses

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12 December 2020

10.1007/S10545-011-9323-7

Identifiers

DOI

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12 April 2018

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12 April 2018