(Q50312496)

2 March 2018

title

Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil. (English)

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2 March 2018

juvenile neuronal ceroid lipofuscinosis

main subject

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author name string

Eugênia Ribeiro Valadares

1

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2 March 2018

Mayara Xavier Pizarro

2

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2 March 2018

Luiz Roberto Oliveira

3

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2 March 2018

Regina Helena Caldas de Amorim

4

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2 March 2018

Tarcísio Márcio Magalhães Pinheiro

5

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2 March 2018

Ulrike Grieben

6

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2 March 2018

Helena Hollanda Santos

7

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2 March 2018

Rachel Rabelo Queiroz

8

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2 March 2018

Guilherme de Castro Lopes

9

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2 March 2018

Ana Lúcia Brunialti Godard

10

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2 March 2018

publication date

1 February 2011

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2 March 2018

Arquivos de Neuro-Psiquiatria

published in

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2 March 2018

volume

69

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2 March 2018

issue

1

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2 March 2018

page(s)

13-18

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2 March 2018

The function of CLN3P, the Batten disease protein

cites work

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2011000100004

Genetics of the neuronal ceroid lipofuscinoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2011000100004

Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2011000100004

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2011000100004

Neuronal ceroid lipofuscinoses: research update

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2011000100004

Neuronal ceroid lipofuscinosis: a common pathway?

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2011000100004

Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2011000100004

Rapid diagnostic test for the major mutation underlying Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2011000100004

Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2011000100004

Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2011000100004

Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2011000100004

Spectrum of mutations in the Batten disease gene, CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2011000100004

Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2011000100004

Should the Babinski sign be part of the routine neurologic examination?

21 January 2018

1 reference

https://api.crossref.org/works/10.1590%2FS0004-282X2011000100004

10.1590/S0004-282X2011000100004

21 January 2018

Identifiers

DOI

1 reference

2 March 2018

PubMed ID

21359416

1 reference

2 March 2018