Thirty years of Batten disease research: present status and future goals.

Thirty years of Batten disease research: present status and future goals.

Item
http://www.wikidata.org/entity/Q40818726
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouseA murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human diseaseAnalysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.Neuronal loss and brain atrophy in mice lacking cathepsins B and LNeuropsychological symptoms of juvenile-onset batten disease: experiences from 2 studiesA new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3.Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.Biometals in rare neurodegenerative disorders of childhood.A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity.Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.Standardized assessment of behavior and adaptive living skills in juvenile neuronal ceroid lipofuscinosis.
P2860

Thirty years of Batten disease research: present status and future goals.

Item
http://www.wikidata.org/entity/Q40818726
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
1999年论文
@zh
1999年论文
@zh-cn
name
Thirty years of Batten disease research: present status and future goals.
@en
type
label
Thirty years of Batten disease research: present status and future goals.
@en
prefLabel
Thirty years of Batten disease research: present status and future goals.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Thirty years of Batten disease research: present status and future goals.
@en
P2093
P304
P31
P356
P433
P478
P577
P698