Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in
amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the …

There is currently no accepted classification of autosomal recessive cerebellar ataxias, a
group of disorders characterized by important genetic heterogeneity and complex phenotypes. …

… energies at or very close to E f (ie, N(E f ) Li,2s the Li 2s partial density of states at the Fermi
level; this can be quite different than the value of N(E f ) that is important in controlling the …

Pompe disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid
alpha-glucosidase. Patients have skeletal muscle and respiratory weakness with or without …

Aim The aim of this trial was to evaluate the efficacy and tolerability of ubrogepant (MK-1602),
a calcitonin gene-related peptide receptor antagonist (CGRP-RA), for the acute treatment …

Aims and background: Mutations in the TARDBP gene, which encodes the TAR DNA
binding protein (TDP-43), have been described in individuals with familial and sporadic …

… A recent meta-analysis that used population-based studies (n ¼ 28) estimated that the pooled
prevalence of ET (at all ages) was 0.9%2 and found that there is an increasing prevalence …

… For each confirmed case patient who received a diagnosis of prostate cancer after having
sent a blood sample, we randomly selected a control subject (n = 1331) from among those …

Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose
characteristic features include hyperkinetic movements and abnormal red blood cell morphology. …

Background: The identification of mutations in the TARDBP and more recently the identification
of mutations in the FUS gene as the cause of amyotrophic lateral sclerosis (ALS) is …