To the Editor: The lysosomal diseases are a class of over 60 genetic disorders with a shared
pathology of accumulated lysosomal substrates and organellar dysfunction. 1 Like most …

Several studies using cryogenic electron microscopy (cryo-EM) techniques recently reported
the isolation and characterization of novel protein filaments, composed of a C-terminal …

Objective: To report a novel compound heterozygous mutation in two siblings with Niemann-
Pick disease type C who displayed distinct phenotypic presentation Background: Niemann …

Niemann–Pick disease type C (NP-C) is a rare autosomal recessive disorder with a wide
clinical neuropsychiatric spectrum resulting from a disorder of intracellular cholesterol …

Niemann-Pick type C (NPC) disease is a rare, usually fatal neurodegenerative lysosomal
storage disorder. It is inherited in an autosomal-recessive fashion and caused by mutation of …

Genetic variation in the lysosomal and transmembrane protein 106B (TMEM106B) modifies
risk for a diverse range of neurodegenerative disorders, especially frontotemporal lobar …

Background Mutations of the gene TMEM106B are risk factors for diverse
neurodegenerative diseases. Previous understanding of the underlying mechanism focused …

We report the case of Niemann–Pick disease type C with extensive phenotypic
heterogeneity in two monozygotic twins. One of the twins presented with a history of …

We report on a patient with adult‐onset Niemann‐Pick type C (NPC) disease, carrying the
mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric …

A 65-year-old, right-handed man of Polish ancestry developed insidious onset, gradually
progressive gait ataxia at the age of 55. Three years later, he started dropping things due to …