Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil

scientific article published in February 2011

Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1590/S0004-282X2011000100004
P698PubMed publication ID21359416

P2093author name stringTarcísio Márcio Magalhães Pinheiro
Ana Lúcia Brunialti Godard
Ulrike Grieben
Eugênia Ribeiro Valadares
Regina Helena Caldas de Amorim
Helena Hollanda Santos
Guilherme de Castro Lopes
Luiz Roberto Oliveira
Mayara Xavier Pizarro
Rachel Rabelo Queiroz
P2860cites workRapid diagnostic test for the major mutation underlying Batten diseaseQ24517921
Spectrum of mutations in the Batten disease gene, CLN3Q24678552
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3Q28236197
Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.Q33679791
Genetics of the neuronal ceroid lipofuscinosesQ33927098
Neuronal ceroid lipofuscinoses: research updateQ34080027
Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten diseaseQ34707128
The function of CLN3P, the Batten disease proteinQ37238448
Neuronal ceroid lipofuscinosis: a common pathway?Q40181051
Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.Q44471831
Should the Babinski sign be part of the routine neurologic examination?Q45975713
Psychiatric symptoms of children and adolescents with juvenile neuronal ceroid lipofuscinosis.Q51934243
Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).Q51997922
Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations.Q52178120
P433issue1
P921main subjectjuvenile neuronal ceroid lipofuscinosisQ1753778
P304page(s)13-18
P577publication date2011-02-01
P1433published inArquivos de Neuro-PsiquiatriaQ15750263
P1476titleJuvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil
P478volume69

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cites work (P2860)
Q58703107A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
Q36332588Astrocytes and lysosomal storage diseases
Q38237560Genetic convergence of Parkinson's disease and lysosomal storage disorders
Q55463348What neurodegeneration, brain malformation and cancer might have in common? An abnormal gene expression!

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