Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

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http://www.wikidata.org/entity/Q46145781
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosisWhole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohortNext generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.Genes and genetic testing in hereditary ataxias.Application of next-generation sequencing technologies in Neurology.Genetics of the neuronal ceroid lipofuscinoses (Batten disease).Junctional proteins of the blood-brain barrier: New insights into function and dysfunction.Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Systematic review of autosomal recessive ataxias and proposal for a classification.Chronic Enzyme Replacement to the Brain of a Late Infantile Neuronal Ceroid Lipofuscinosis Mouse Has Differential Effects on Phenotypes of Disease.Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Inherited diseases caused by mutations in cathepsin protease genes.Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.
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Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

Item
http://www.wikidata.org/entity/Q46145781
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Autosomal recessive spinocereb ...... osis 2 disease (CLN2 disease).
@en
Autosomal recessive spinocereb ...... osis 2 disease (CLN2 disease).
@nl
type
label
Autosomal recessive spinocereb ...... osis 2 disease (CLN2 disease).
@en
Autosomal recessive spinocereb ...... osis 2 disease (CLN2 disease).
@nl
prefLabel
Autosomal recessive spinocereb ...... osis 2 disease (CLN2 disease).
@en
Autosomal recessive spinocereb ...... osis 2 disease (CLN2 disease).
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P356
P1433
P1476
Autosomal recessive spinocereb ...... osis 2 disease (CLN2 disease).
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921