The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
disorders that affect children and adults and are grouped together by similar clinical features …

The neuronal ceroid lipofuscinoses (NCLs) are clinically and genetically heterogeneous
neurodegenerative disorders. Most are autosomal recessively inherited. Clinical features …

The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes
that have a variable age of onset, based on expert consensus of the International League …

We performed hypothesis-free linkage analysis and exome sequencing in a family with two
siblings who had neuronal ceroid lipofuscinosis (NCL). Two linkage peaks with maximum …

Since the discovery of the lysosome in 1955, advances have been made in understanding
the key roles and functions of this organelle. The concept of lysosomal storage diseases …

The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage disorders and together
are the most common degenerative brain diseases in childhood. They are a group of …

Autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (ANCL) is characterized by
accumulation of autofluorescent storage material in neural tissues and neurodegeneration …

In childhood the neuronal ceroid lipofuscinoses (NCL) are the most frequent lysosomal
diseases and the most frequent neurodegenerative diseases but, in adulthood, they …

We provide a new classification for the neuronal ceroid lipofuscinoses (NCLs) that takes into
account recent genetic and biochemical advances. This was originally developed by an …

The main aim of this review is to summarize the current state-of-art in the field of childhood
Neuronal Ceroid Lipofuscinosis (NCL), a group of rare neurodegenerative disorders. These …