Results 91 to 100 of about 77,401 (305)
Primary Coenzyme Q10 Deficiency [PDF]
, 2017 open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive ...
Doimo, Mara +3 more
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Just recently, successful chimeric antigen receptor (CAR) T cell therapy was reported in the first patient with refractory, anti‐diacylglycerol lipase alpha (DAGLA) antibody‐mediated autoimmune encephalitis, achieving partial clinical remission.
Dimitrios Mougiakakos +9 more
wiley +1 more source
Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. [PDF]
, 2012 Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited disorder, which is caused by a pathological expansion of a polyglutamine (polyQ) tract in the coding region of the ATXN2 gene.
Hansen, Stephen T +3 more
core +1 more source
MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru +13 more
wiley +1 more source
Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency
MetabolitesCitric acid cycle deficiencies are extremely rare due to their central role in energy metabolism. The ACO2 gene encodes the mitochondrial isoform of aconitase (aconitase 2), the second enzyme of the citric acid cycle.
Maximilian Penkl +9 more
doaj +1 more source
Sensorimotor processing for balance in spinocerebellar ataxia type 6. [PDF]
, 2015 We investigated whether balance impairments caused by cerebellar disease are associated with specific sensorimotor processing deficits that generalize across all sensory modalities.
Bunn, LM +4 more
core +1 more source
Cognitive Trajectories from Preclinical Alzheimer's Disease to Dementia
Advanced Science, EarlyView.A continuous, multi‐domain characterization of cognitive decline across the Alzheimer's disease spectrum identifies when individual cognitive measures become abnormal. Episodic memory declines first, followed by executive function, language, processing speed, and visuospatial abilities, supporting improved clinical interpretation and optimized endpoint
Fredrik Öhman +3 more
wiley +1 more source
Correlating familial Alzheimer’s disease gene mutations with clinical phenotype [PDF]
, 2010 Alzheimer’s disease (AD) causes devastating cognitive impairment and an intense research effort is currently devoted to developing improved treatments for it.
Rossor, M.N., Ryan, N.S.
core +1 more source
Enhanced pre-frontal functional-structural networks to support postural control deficits after traumatic brain injury in a pediatric population [PDF]
, 2017 Traumatic brain injury (TBI) affects the structural connectivity, triggering the re-organization of structural-functional circuits in a manner that remains poorly understood.
Bonifazi, Paolo +7 more
core +3 more sources
Advanced Science, EarlyView.Despite widespread exposure, the mechanisms of manganese neurotoxicity remain poorly understood. Using correlative cryogenic fluorescence and synchrotron X‐ray fluorescence imaging techniques, we show that the Golgi apparatus is the primary accumulation site for manganese in both neurons and astrocytes, and that manganese targets the neuronal ...
Ines Kelkoul +12 more
wiley +1 more source