Results 151 to 160 of about 724,211 (317)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
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
Investigation of split injection in a single cylinder optical diesel engine
, 2009 This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel University.Over the last decade, the diesel engine has made dramatic progress in its performance and market penetration.
Díez Rodríguez, Álvaro
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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
, 2015 Hai Meng, Qi Fei, Bingqiang Wang, Yong Yang, Dong Li, Jinjun Li, Nan Su Department of Orthopedics, Beijing Friendship Hospital, Capital Medical University, Beijing, People’s Republic of China Background: Epidural injections of ...
Fei Q +6 more
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Arthritis Care &Research, EarlyView.Objective We aimed to validate the Pediatric Arthritis Ultrasound Scoring System (PAUSS) for upper extremity joints in children with juvenile idiopathic arthritis (JIA). Methods Children with JIA were evaluated for elbow, wrist, or finger arthritis by clinical examination (CE) and musculoskeletal ultrasound (MSUS) with images scored according to the ...
Patricia Vega‐Fernandez +12 more
wiley +1 more source
, 2015 Ella H Leung,1 Ashvini K Reddy,2 Anil S Vedula,1 Harry W Flynn Jr1 1Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami, Miami, FL, 2Department of Ophthalmology, University of Virginia, Charlottesville, VA, USA Abstract: An 84-
Vedula AS +3 more
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A Case of Bilateral Steroid Arthropathy of the Hip Following Repeated Intra-articular Steroid Injections. [PDF]
J Orthop Case RepKobayashi H, Horiuchi K.
europepmc +1 more source
High Health Care Utilization Preceding Diagnosis With Juvenile Idiopathic Arthritis
Arthritis Care &Research, EarlyView.Objective Although early diagnosis improves long‐term outcomes, patients with juvenile idiopathic arthritis (JIA) often experience prolonged, circuitous paths to diagnosis. To inform diagnostic improvement, we sought to characterize health care utilization in the year preceding diagnosis. Methods We identified 10,021 patients with an incident diagnosis
Anna Costello +5 more
wiley +1 more source
Wei-Ting Wu,1– 3 Ke-Vin Chang,1– 4 Levent Özçakar5 1Department of Physical Medicine and Rehabilitation, National Taiwan University Hospital, Taipei, Taiwan; 2Department of Physical Medicine and Rehabilitation, National Taiwan University College of ...
Wu WT, Özçakar L, Chang KV
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