A new study by researchers from Montefiore’s Albert Einstein College of Medicine has found that a rare genetic mutation that ...

A new discovery about mutations in a gene that causes ALS may allow researchers to design targeted therapies, a study found.

The mutation identified in ARPP21 had not been found in other ALS-causing genes. This finding strongly suggests that ARPP21 is a novel ALS-causing gene.

A gene mutation associated with a rare sleep disorder surprisingly also contributes to debilitating migraines, a new study led by University of Utah researchers shows.

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.

Deep inside the body, a slow-growing cluster of mutated blood cells can form. This cluster, found in 1 in 5 older adults, can ...

Gene mutation discovered that causes language impairment, ADHD and myasthenia Date: September 22, 2022 Source: University of Cologne Summary: Scientists have shown that defects in the protein ...

A University of Massachusetts Amherst scientist has discovered that a mutation in the misfolding protein that causes Parkinson’s disease offers protection against another fatal neurodegenerative ...

University of Manchester scientists have mapped the mutations in the tiny protein chains that cause a subtype of muscular ...

Without this specific mutation in the non-catalytic domain, the enzyme retains its normal function. The next step would be to determine what is the 3D conformation in mutant SKD3 that causes MGCA7 ...

Scientists have identified a mutation in a gene that causes patches of very thick skin to appear on the palms and soles of affected people.