Epilepsy is a common and serious neurologic disease with a strong genetic component.
Genetic studies have identified an increasing collection of disease-causing genes. The …

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 …

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 …

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

The fatal, primarily childhood neurodegenerative disorders, neuronal ceroid lipofuscinoses
(NCLs), are currently associated with mutations in 13 genes. The protein products of these …

Protein ubiquitylation is a post‐translational modification that controls all aspects of
eukaryotic cell functionality, and its defective regulation is manifested in various human …

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited neurodegenerative
disorders that affect children and adults. They share some similar clinical features and the …

The underlying molecular basis for neurodevelopmental or neuropsychiatric disorders is not
known. In contrast, mechanistic understanding of other brain disorders including …

Neuronal ceroid lipofuscinosis (NCLs) is a group of inherited neurodegenerative lysosomal
storage diseases that together represent the most common cause of dementia in children …