Chronic idiopathic axonal polyneuropathy (CIAP) is a term describing neuropathies with both
sensory and motor involvement in a length dependant distribution where neurophysiology …

Aims Loss of nuclear TDP ‐43 characterizes sporadic and most familial forms of amyotrophic
lateral sclerosis ( ALS ). TDP ‐43 (encoded by TARDBP ) has multiple roles in RNA …

Background Generalised myasthenia gravis is a chronic, unpredictable, and debilitating rare
disease, often accompanied by high treatment burden and with an unmet need for more …

Objective The clinical utility of routine genetic sequencing in amyotrophic lateral sclerosis (ALS)
is uncertain. Our aim was to determine whether routine targeted sequencing of 44 ALS-…

Objective We aimed to characterize the demographics of adults with dissociative (nonepileptic)
seizures, placing emphasis on distribution of age at onset, male:female ratio, levels of …

… CAA Hewamadduma has received travel funding from Griffols Ltd.; is employed …
Hewamadduma at the University of Sheffield and conducted the data analysis with Dr. …

Background Valosin-containing protein (VCP) disease, caused by mutations in the VCP
gene, results in myopathy, Paget’s disease of bone (PBD) and frontotemporal dementia (FTD). …

Mutations in the transactive response DNA binding protein-43 (TARDBP/TDP-43) gene, which
regulates transcription and splicing, causes a familial form of amyotrophic lateral sclerosis …

The diagnosis of muscle disorders (“myopathies”) can be challenging and new biomarkers of
disease are required to enhance clinical practice and research. Despite advances in areas …

The hereditary spastic paraplegias (HSP) are a heterogeneous group of conditions in which
the main feature is a progressive spastic paraparesis. Mutations in the receptor expression …