Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
about
Effective intravenous therapy for neurodegenerative disease with a therapeutic enzyme and a peptide that mediates delivery to the brainAnalysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutationsNeuroinflammatory paradigms in lysosomal storage diseases.Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.
P2860
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P2860
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
@zh
2013年论文
@zh-cn
name
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
@ast
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
@en
type
label
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
@ast
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
@en
prefLabel
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
@ast
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
@en
P2093
P2860
P50
P356
P1476
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
@en
P2093
Alessandro Simonati
Bernardo Dalla Bernardina
Dianela Claps
Filippo Maria Santorelli
Francesco Pezzini
Mirella Filocamo
Nardo Nardocci
Roberta Biancheri
P2860
P2888
P356
10.1186/1750-1172-8-19
P577
2013-02-02T00:00:00Z
P5875
P6179
1008287359