Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A pathophysiological study of neuronal ceroid lipofuscinoses in 17 patients: critical review and methodological proposal.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jan 2000

Scaioli V, Nardocci N

Abstract excerpt

The importance of visual evoked potentials (VEPs) and electroencephalography for diagnosing and distinguishing the infantile (INCL), late-infantile (LINCL) and juvenile (JNCL) forms of neuronal ceroid lipofuscinoses (NCL) is well established. Variant forms with protracted clinical courses and atypical symptoms have been described recently, whose neurophysiological characteristics sometimes overlap those of LINCL...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Evoked Potentials

Share to Evoked Potentials, Auditory, Brain Stem

Share to Evoked Potentials, Visual

Share to NCL gene

Share to Neuronal Ceroid-Lipofuscinoses

Share to Phenotype

Source

Identifiers

PMID: 11073234
DOI: 10.1007/s100720070046

Genes

NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A pathophysiological study of neuronal ceroid lipofuscinoses in 17 patients: critical review and methodological proposal.PMID 11073234Read ↗

Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.Semantic proximity Read ↗

[Pitfalls in the clinical and electroencephalographic diagnosis of ceroid lipofuscinosis].Semantic proximity Read ↗

Neuronal ceroid lipofuscinoses: research update.Semantic proximity Read ↗

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.Semantic proximity Read ↗

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in ItalySemantic proximity Read ↗

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.Semantic proximity Read ↗

Clinical, electrophysiological, imaging, and ultrastructural description in 68 patients with neuronal ceroid lipofuscinoses and its subtypes.Semantic proximity Read ↗

Neuronal ceroid lipofuscinosis: detection of atypical forms.Semantic proximity Read ↗

Genotype-phenotype analyses of classic neuronal ceroid lipofuscinosis (NCLs): genetic predictions from clinical and pathological findings.Semantic proximity Read ↗

First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.Semantic proximity Read ↗

Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype.Semantic proximity Read ↗

Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.