Researchers from the Neuromuscular Diseases Group and the Dementia Neurobiology Group of the Sant Pau Research Institute (IR Sant Pau) and the Memory Unit of the Sant Pau Hospital, led by neurologist ...

A team of scientists led by Prof. Patrik Verstreken (VIB-KU Leuven) has identified a new genetic mutation that may cause a form of early-onset Parkinsonism. The mutation, located in a gene called ...

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) can have the same genetic cause, a discovery that won ...

An international team of scientists has discovered an additional potential cause of the genetic mutations that result in rare neurodegenerative conditions such as Huntington's disease. Scientists have ...

Most mutations that cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a major study of human protein variants that was published in Nature ...

Scientists have corrected an extremely rare and life-threatening genetic disease of the liver in mouse models and human patient cells, using the gene-editing approach that served as the basis for the ...

Genetic changes or mutations can cause hereditary kidney disease, which can eventually lead to dialysis or the need for kidney transplantation. Identifying the cause of inherited kidney disease is the ...

An inherited form of blindness directly comparable to a common inherited optic nerve disease in humans has been discovered in ...