Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
about
Progressive volume loss and white matter degeneration in cstb-deficient mice: a diffusion tensor and longitudinal volumetry MRI study.Progressive myoclonic epilepsies: definitive and still undetermined causes.A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients.Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy
P2860
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.
description
2012 nî lūn-bûn
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2012年の論文
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name
Electroclinical presentation a ...... STB point and indel mutations.
@en
Electroclinical presentation a ...... STB point and indel mutations.
@nl
type
label
Electroclinical presentation a ...... STB point and indel mutations.
@en
Electroclinical presentation a ...... STB point and indel mutations.
@nl
prefLabel
Electroclinical presentation a ...... STB point and indel mutations.
@en
Electroclinical presentation a ...... STB point and indel mutations.
@nl
P2093
P2860
P50
P1433
P1476
Electroclinical presentation a ...... CSTB point and indel mutations
@en
P2093
Antonella Boni
Elena Gennaro
Francesca Beccaria
Giuseppe Capovilla
Giuseppe Gobbi
Maria Di Stefano
Maurizio Viri
Pamela Agazzi
Silvana Franceschetti
Stefania Assereto
P2860
P304
P356
10.1111/J.1528-1167.2012.03718.X
P577
2012-12-01T00:00:00Z