Motor neuron diseases (MNDs) are etiologically and biologically heterogeneous diseases.
The pathobiology of motor neuron degeneration is still largely unknown, and no effective …

To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced …

Exome sequencing is an effective strategy for identifying human disease genes. However,
this methodology is difficult in late-onset diseases where limited availability of DNA from …

Kennedy’s disease, or spinal and bulbar muscular atrophy (SBMA), is an X-linked neuromuscular
condition clinically characterised by weakness, atrophy and fasciculations of the limb …

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …

Background Mutations in the FUS gene have recently been discovered to be a major cause
of familial amyotrophic lateral sclerosis (FALS). Objective To determine the identity and …

Background We report the initial results from a phase I clinical trial for ALS. We transplanted
GMP-grade, fetal human neural stem cells from natural in utero death (hNSCs) into the …

Importance A clearer definition of the role of neurofilament light chain (NFL) as a biomarker
in amyotrophic lateral sclerosis (ALS) is needed. Objectives To assess the ability of NFL to …

Spinal and bulbar muscular atrophy (SBMA) is an adult form of X-linked motor neuron
disease caused by an expansion of a CAG repeat sequence in the first exon of the androgen …

The molecular mechanisms influencing muscle atrophy in humans are poorly understood.
Atrogin‐1 and MuRF1, two ubiquitin E3‐ligases, mediate rodent and cell muscle atrophy and …