Results 131 to 140 of about 1,898,530 (318)
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
The Neurobiology of Reading Difficulties
Prostaglandins, Leukotrienes and Essential Fatty Acids (PLEFA), 2000 There is very little agreement about why so many otherwise intelligent children experience such difficulty learning to read. Up to 10% of children fail to learn to read at the level expected of their age and other cognitive abilities. Some people still believe that their problems are purely linguistic, due to inheriting or acquiring a defective ...
openaire +6 more sources
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Moral Ramifications and Difficulties [PDF]
Cerebrum issues stay one of the characterizing difficulties of current medication and among the most ineffectively presented with new therapeutics. Propels in human neurogenetics have started to reveal insight into the genomic engineering of complicated ...
Hitesh Balu, Mahajan +2 more
core
A difícil governança monetária internacional
Meridiano 47, 2017 International monetary governance is a political Project. The G20 discuss this plan. Specific issue is the reform of IMF governance through the fourteen quotas review. The International Political Economy examines this issue in International Relations.
Rodrigo Maschion Alves
doaj
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
Profile: Issues in Teachers' Professional Development, 2005 Student-teachers expect their experience in the practicum to show them what teaching truly involves. Most of them are willing to put into practice all the theories and concepts they have learned and to find out if these actually work.
Xatlí Zuleta Garzón +1 more
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