CEROID LIPOFUSCINOSIS, NEURONAL, 8

The late-infantile-onset forms of neuronal ceroid lipofuscinosis (LINCL) are the most genetically heterogeneous group among the… Expand

BackgroundNeuronal ceroid lipofuscinoses (NCLs) comprise at least eight genetically characterized neurodegenerative disorders of… Expand

The late-infantile-onset forms are the most genetically heterogeneous group among the autosomal recessively inherited… Expand

Neuronal ceroid lipofuscinoses (NCLs) are a group of childhood-onset neurodegenerative disorders characterized by accumulation of… Expand

The neuronal ceroid lipofuscinoses (NCL), also known as Batten disease, are a group of inherited severe neurodegenerative… Expand

Lag1p and Lac1p are two highly homologous membrane proteins of the endoplasmic reticulum. lag1delta lac1delta double mutants in… Expand

We report here the intracellular (pHi) and lysosomal pH in fibroblasts of six forms of neuronal ceroid lipofuscinoses (NCLs… Expand

Thirty-eight mutations and seven polymorphisms have recently been reported in the genes underlying the neuronal ceroid… Expand

Progressive epilepsy with mental retardation (EPMR) is a new member of the neuronal ceroid lipofuscinoses (NCLs). The CLN8 gene… Expand

The neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of progressive neurodegenerative disorders… Expand