Results 211 to 220 of about 47,410 (348)

Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

open access: yesMovement Disorders, EarlyView.
Abstract Background Breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) in basal ganglia cells through hydrolysis of diesteric bonds, primarily by PDE10A and PDE1B, is essential for normal human movement. While biallelic loss‐of‐function variants in PDE10A are known to cause hyperkinetic movement disorders, the ...
Tomer Poleg   +21 more
wiley   +1 more source

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis

open access: yesMovement Disorders, EarlyView.
Abstract Background Very long chain fatty acids (VLCFAs) are an integral component of myelin and the epidermal water barrier. Variants in genes encoding enzymes responsible for catalyzing the first and rate limiting step in the production of VLCFAs, elongation of VLCFAs (ELOVLs), underlie a novel group of metabolic disorders. Objectives The goal was to
Keit Men Wong   +24 more
wiley   +1 more source

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