scholarly article | Q13442814 |
P356 | DOI | 10.1590/S0004-282X2011000100004 |
P698 | PubMed publication ID | 21359416 |
P2093 | author name string | Tarcísio 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 | |||
P2860 | cites work | Rapid diagnostic test for the major mutation underlying Batten disease | Q24517921 |
Spectrum of mutations in the Batten disease gene, CLN3 | Q24678552 | ||
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3 | Q28236197 | ||
Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR. | Q33679791 | ||
Genetics of the neuronal ceroid lipofuscinoses | Q33927098 | ||
Neuronal ceroid lipofuscinoses: research update | Q34080027 | ||
Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease | Q34707128 | ||
The function of CLN3P, the Batten disease protein | Q37238448 | ||
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 | ||
P433 | issue | 1 | |
P921 | main subject | juvenile neuronal ceroid lipofuscinosis | Q1753778 |
P304 | page(s) | 13-18 | |
P577 | publication date | 2011-02-01 | |
P1433 | published in | Arquivos de Neuro-Psiquiatria | Q15750263 |
P1476 | title | Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil | |
P478 | volume | 69 |
Q58703107 | A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report |
Q36332588 | Astrocytes and lysosomal storage diseases |
Q38237560 | Genetic convergence of Parkinson's disease and lysosomal storage disorders |
Q55463348 | What neurodegeneration, brain malformation and cancer might have in common? An abnormal gene expression! |
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