Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
about
Brain imaging in Kufs disease type B: case reports.Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses.Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies.Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.Loss of Cln5 causes altered neurogenesis in a mouse model of a childhood neurodegenerative disorder.
P2860
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
description
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name
Adult-onset autosomal recessiv ...... type 5 gene (CLN5) mutations.
@en
Adult-onset autosomal recessiv ...... oid lipofuscinosis type 5 gene
@nl
type
label
Adult-onset autosomal recessiv ...... type 5 gene (CLN5) mutations.
@en
Adult-onset autosomal recessiv ...... oid lipofuscinosis type 5 gene
@nl
prefLabel
Adult-onset autosomal recessiv ...... type 5 gene (CLN5) mutations.
@en
Adult-onset autosomal recessiv ...... oid lipofuscinosis type 5 gene
@nl
P2093
P2860
P50
P1433
P1476
Adult-onset autosomal recessiv ...... type 5 gene (CLN5) mutations.
@en
P2093
Aija Kyttala
Alessandro Brussino
Bruce Nmezi
Eleonora Di Gregorio
Hakon Hakonarson
Nicola Renato Pizio
Quasar Salem Padiath
Simona Cavalieri
Stefano Nassani
P2860
P2888
P304
P356
10.1007/S00415-014-7553-Y
P577
2014-10-31T00:00:00Z