Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we
report eight unrelated families from which 20 children presented with a fatal syndrome …

Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we
report eight unrelated families from which 20 children presented with a fatal syndrome …

Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we
report eight unrelated families from which 20 children presented with a fatal syndrome …

Human C2orf69 is an evolutionary-conserved gene whose function is unknown. Here, we
report 9 children from 5 unrelated families with a fatal syndrome consisting of severe auto …

Background Deciphering the function of the many genes previously classified as
uncharacterized “open reading frame”(orf) completes our understanding of cell function and …

BACKGROUND Deciphering the function of the many genes previously classified as
uncharacterized open reading frame (ORF) would complete our understanding of a cell's …

Mutations in the C9ORF72 gene are the most common cause of amyotrophic lateral
sclerosis (ALS). Both toxic gain of function and loss of function pathogenic mechanisms …

Abstract Neurodegeneration with Brain Iron Accumulation (NBIA) is a group of
neurodegenerative diseases characterized by the eponymous accumulation of iron in the …

Neurogenesis is the process by which undifferentiated progenitor cells develop into mature
and functional neurons. Defects in neurogenesis are associated with neurodevelopmental …

C9ORF72 mutations are the most common genetic cause of ALS and FTD, leading to
neurodegeneration via complex mechanisms. Mutations also lead to loss of C9ORF72 …