Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the
motor system, but in which extra‐motor manifestations are increasingly recognized. The loss …

Background: The evidence base for the diagnosis and management of amyotrophic lateral
sclerosis (ALS) is weak. Objectives: To provide evidence‐based or expert recommendations …

Unfortunately and despite all efforts, amyotrophic lateral sclerosis (ALS) remains an incurable
neurodegenerative disorder characterized by the progressive and selective death of motor …

Background The intrathecally administered antisense oligonucleotide tofersen reduces
synthesis of the superoxide dismutase 1 (SOD1) protein and is being studied in patients with …

Neurotrophin treatment has so far failed to prolong the survival of individuals affected with
amyotrophic lateral sclerosis (ALS), an incurable motoneuron degenerative disorder. Here we …

Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral
nervous system. Mutations in the 27-kDa small heat-shock protein gene (HSPB1) cause …

Hexanucleotide expansions in C9ORF72 are the most frequent genetic cause of amyotrophic
lateral sclerosis and frontotemporal dementia. Disease mechanisms were evaluated in …

Background Complement is likely to have a role in refractory generalised myasthenia gravis,
but no approved therapies specifically target this system. Results from a phase 2 study …

Liquid-liquid phase separation (LLPS) of RNA-binding proteins plays an important role in
the formation of multiple membrane-less organelles involved in RNA metabolism, including …

Recently, mutations in the progranulin (PGRN) gene were found to cause familial and apparently
sporadic frontotemporal lobe dementia (FTLD). Moreover, missense changes in PGRN …