Results 111 to 120 of about 6,089,967 (287)
bioRxiv, 2020 Leigh syndrome (LS) is a rare, inherited neurometabolic disorder that presents with bilateral brain lesions, caused by defects in the mitochondrial respiratory chain and associated nuclear-encoded proteins.
Alejandra I Romero-Morales +12 more
semanticscholar +1 more source
Epilepsia, EarlyView.Abstract Lennox–Gastaut syndrome (LGS) is one of the most severe, yet one of the most discussed, childhood‐onset developmental and epileptic encephalopathies (DEEs). Dissent among epileptologists on the definition and minimum set of electroclinical features derives from the high etiological heterogeneity within the syndrome, which could make its ...
Antonella Riva +40 more
wiley +1 more source
Controlled trial of lovastatin combined with an open-label treatment of a parent-implemented language intervention in youth with fragile X syndrome. [PDF]
, 2020 BackgroundThe purpose of this study was to conduct a 20-week controlled trial of lovastatin (10 to 40 mg/day) in youth with fragile X syndrome (FXS) ages 10 to 17 years, combined with an open-label treatment of a parent-implemented language intervention (
Abbeduto, Leonard +10 more
core
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder [PDF]
, 2015 Background: Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present.
Collins, Abigail E +13 more
core +2 more sources
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis
Journal of Inherited Metabolic Disease, 2020 Leigh syndrome is a major phenotype of mitochondrial diseases in children. With new therapeutic options being proposed, assessing the mortality and clinical condition of Leigh syndrome patients is crucial for evaluating therapeutics.
E. Ogawa +17 more
semanticscholar +1 more source
GPi‐DBS for SERAC1‐Related Dystonia‐Parkinsonism
Movement Disorders Clinical Practice, EarlyView.
Vidal Yahya +13 more
wiley +1 more source
Journal of Child Psychology and Psychiatry, Volume 66, Issue 4, Page 516-546, April 2025.Proliferation of the term “emotion dysregulation” in child psychopathology parallels the growing interest in processes that influence negative emotional reactivity. While it commonly refers to a clinical phenotype where intense anger leads to behavioral dyscontrol, the term implies etiology because anything that is dysregulated requires an impaired ...
Joseph C. Blader +2 more
wiley +1 more source
Psychosocial and Biological Factors Contributing to Body Weight Gain in Schizophrenia [PDF]
, 2011 Overweight and obesity are frequently reported to be a significant issue in schizophrenia resulting in the inherent complications of these disorders.
Pai, NB, Vella, SC
core +2 more sources
Exclusive neuronal expression of SUCLA2 in the human brain [PDF]
, 2013 SUCLA2 encodes the ATP-forming subunit (A-SUCL-) of succinyl-CoA ligase, an enzyme of the citric acid cycle. Mutations in SUCLA2 lead to a mitochondrial disorder manifesting as encephalomyopathy with dystonia, deafness and lesions in the basal ganglia ...
A Kowluru +55 more
core +2 more sources
Reply: “Leigh Syndrome Due to the Variant c.1019T>C in COX15”
Movement Disorders Clinical Practice, EarlyView.
Haya S. AlFaris +8 more
wiley +1 more source