Neurodegenerative diseases are disabling and fatal neurological disorders that currently lack
effective treatment. Neural stem cell (NSC) transplantation has been studied as a potential …

Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disorder characterized by
progressive degeneration of motor neurons (MNs). Most cases are sporadic, whereas 10% …

In this work, we describe the association of a novel homozygous VPS11 variant with adult‐onset
generalized dystonia, providing a detailed clinical report and biological evidence of …

Mutations in the gene encoding the mitochondrial carrier protein SLC25A46 are known to
cause optic atrophy associated with peripheral neuropathy and congenital pontocerebellar …

Background and Objectives Coenzyme Q 10 (CoQ 10 )–deficient cerebellar ataxia can be
due to pathogenic variants in genes encoding for CoQ 10 biosynthetic proteins or associated …

In 2011, a hexanucleotide repeat expansion (HRE) in the noncoding region of C9orf72 was
associated with the most frequent genetic cause of frontotemporal dementia (FTD) and …

Introduction CACNA1S related congenital myopathy is an emerging recently described
entity. In this report we describe 2 sisters with mutations in the CACNA1S gene and the novel …

FUS-dependent phase separation initiates double-strand break repair Page 1 1 FUS-dependent
phase separation initiates double-strand break repair Silvia C. Lenzken1$, Brunno R …

Methods We differentiated C9ALS induced pluripotent stem cells (iPSCs) and isogenic controls
using a free-floating 3D-culture method. We generated SCOs with a modified Lancaster’s …

Fundamento los estudios sugieren la presencia de deficiencia de hierro en niños obesos,
lo que conduciría a una mayor incidencia de anemia en este grupo. Objetivo: evaluar la …