Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal
neurodegenerative disorders that are thought to exist on a clinical and pathological …

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 …

During the last two to three decades, a large body of work has revealed the molecular basis
of many human disorders, including retinal and vitreoretinal degenerations and …

Fifteen‐year‐old adolescents (N= 109) in a longitudinal study of child development were
recruited to examine differences in DNA methylation in relation to parent reports of adversity …

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

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) primarily affect the
motor and frontotemporal areas of the brain, respectively. These disorders share clinical …

The lysosomal membrane was thought for a long time to primarily act as a physical barrier
separating the luminal acidic milieu from the cytoplasmic environment. Meanwhile, it has …

For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management,
predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a …

The neuronal ceroid lipofuscinoses (NCL) are severe neurodegenerative lysosomal storage
disorders of childhood, characterized by accumulation of autofluorescent ceroid …

Defects in lysosomal function have been associated with numerous monogenic human
diseases typically classified as lysosomal storage diseases. However, there is increasing …