Results 201 to 210 of about 4,658,568 (224)
(Es)ketamine in functional neurological disorder: a systematic review. [PDF]
Front PsychiatryTamilson B +7 more
europepmc +1 more source
COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT COX14 encodes a transmembrane protein essential for cytochrome c oxidase (COX) complex assembly. A homozygous missense variant in COX14 was reported in three siblings from a single consanguineous family with severe, fatal infantile mitochondrial complex IV deficiency nuclear type 10 (MC4DN10; MIM# 619053).
Elias K. Awad +7 more
wiley +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
Functional (Dissociative) Narcolepsy: A Case Report and Literature Review. [PDF]
CureusCrail-Meléndez D +2 more
europepmc +1 more source
Prepulse inhibition of the blink reflex in functional neurological disorder and fibromyalgia. [PDF]
BrainNováková L +8 more
europepmc +1 more source
Structural, functional and neurochemical imaging mapping of non-motor symptoms in Parkinson's disease. [PDF]
Brain CommunCamastra C, Quattrone A, Quattrone A.
europepmc +1 more source