Vascular complications of diabetes pose a severe threat to human health. Prevention and
treatment protocols based on a single vascular complication are no longer suitable for the …

Inherited neuropathies known as Charcot-Marie-Tooth (CMT) disease are genetically
heterogeneous disorders affecting the peripheral nerves, causing significant and slowly …

Abstract Background The UK 100,000 Genomes Project is in the process of investigating the
role of genome sequencing in patients with undiagnosed rare diseases after usual care and …

Effective computer-aided or automated variant evaluations for monogenic diseases will
expedite clinical diagnostic and research efforts of known and novel disease-causing genes …

There is still no effective drug treatment available for Charcot-Marie-Tooth neuropathies
(CMT). Current management relies on rehabilitation therapy, surgery for skeletal deformities …

Abstract Charcot‐Marie‐Tooth (CMT) neuropathies are one of the most common
neuromuscular disorders. However, despite the identification of more than 100 causative …

Objective Epalrestat, an aldose reductase inhibitor increases phosphomannomutase (PMM)
enzyme activity in a PMM2‐congenital disorders of glycosylation (CDG) worm model …

Background and purpose Distal hereditary motor neuropathies (dHMNs) are a
heterogeneous group of disorders characterized by degeneration of the motor component of …

Heritable neurological disorders provide insights into disease mechanisms that permit
development of novel therapeutic approaches including antisense oligonucleotides, RNA …

Aims Epidemic obesity and diabetes have led to increased use of low-calorie sweeteners.
Although several studies have suggested that consumption of artificial sweeteners, such as …