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 …

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 …

C12orf65 participates in the process of mitochondrial translation and has been shown to be
associated with a spectrum of phenotypes, including early onset optic atrophy, progressive …

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

Objective: To describe the autopsy case of a patient with a homozygous 2-base deletion,
c171_172delGA (p. N58fs), in the C12orf65 gene. Methods: We described the clinical …

Mutations in C9orf72 are the most common genetic cause of amyotrophic lateral sclerosis
(ALS). Accumulating evidence implicates astrocytes as important non‐cell autonomous …

The haploinsufficiency of C9orf72 is implicated in the most common forms of amyotrophic
lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the full spectrum of C9orf72 …

Treatments for neurodegenerative disease, including Frontotemporal dementia (FTD) and
Amyotrophic lateral sclerosis (ALS), remain rather limited, underscoring the need for greater …