Patients with this genetic disorder have a form of dwarfism — they are short in stature and have underdeveloped ears and ...

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 ...

Revealing the limitations of cloning, researchers who repeatedly cloned mice for two decades have discovered that such serial ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

Worldwide, only a handful of patients are known to suffer from episodic ataxia type 6, a neurological disease that causes transient loss of muscle control. The cause lies in a mutation that changes a ...

Researchers at Baylor College of Medicine and collaborating institutions report in the journal Nature Communications how a mutation in the enzyme SKD3 can cause a ...

(SALT LAKE CITY)--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. The discovery ...