A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

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http://www.wikidata.org/entity/Q47831027
Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to functionDown regulation of genes involved in T cell polarity and motility during the induction of heart allograft tolerance by allochimeric MHC I.Novel rare missense variations and risk of autism spectrum disorder: whole-exome sequencing in two families with affected siblings and a two-stage follow-up study in a Japanese populationResequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese PopulationGenetics of the neuronal ceroid lipofuscinoses (Batten disease).Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders.A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene.A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation.A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model Cln8mnd : implications to delayed myelination and oligodendrocyte maturation.
P2860

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

Item
http://www.wikidata.org/entity/Q47831027
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
A novel CLN8 mutation in late- ...... CLN8 neurobiological function.
@en
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis
@nl
type
label
A novel CLN8 mutation in late- ...... CLN8 neurobiological function.
@en
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis
@nl
prefLabel
A novel CLN8 mutation in late- ...... CLN8 neurobiological function.
@en
A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
A novel CLN8 mutation in late- ...... CLN8 neurobiological function.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698