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Article

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.

Journal of neurology - 1 May 2016

Doccini Stefano, Sartori Stefano, Maeser Stefan, Pezzini Francesco, Rossato Sara, Moro Francesca, Toldo Irene, Przybylski Michael, Santorelli Filippo M, Simonati Alessandro

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Identifiers

PMID: 27072142
DOI: 10.1007/s00415-016-8111-6

Genes

CTSD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.PMID 27072142Read ↗

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.Semantic proximity Read ↗

A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.Semantic proximity Read ↗

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion.Semantic proximity Read ↗

A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.Semantic proximity Read ↗

Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile.Semantic proximity Read ↗

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease.Semantic proximity Read ↗

Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.Semantic proximity Read ↗

Novel CLN5 Mutation in Neuronal Ceroid Lipofuscinosis Type 5.Semantic proximity Read ↗

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