Results 121 to 130 of about 1,419,974 (261)

Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease

, 2017
Diagnosing mitochondrial disease (MD) is a challenge. In addition to genetic analyses, clinical practice is to perform invasive procedures such as muscle biopsy for biochemical and histochemical analyses. Blood cell respirometry is rapid and noninvasive.
Hansson, Magnus J, Johannes K Ehinger, Emil Westerlund, Fredrik Sjövall, Fellman, Vineta, Ehinger, Johannes K, Oldfors, Anders,, Lundgren, Johan, Johan Lundgren, Anders Oldfors, Eskil Elmér, Elmér, Eskil, Eleonor Åsander Frostner, Åsander Frostner, Eleonor, Westerlund, Emil, Oldfors, Anders, Magnus J Hansson, Darin, Niklas,, Sigurður E Marelsson, Niklas Darin, Vineta Fellman, Darin, Niklas, Morota, Saori, Marelsson, Sigurður E, Sjövall, Fredrik, Saori Morota   +25 more
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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, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Longitudinal Follow-up Comparing Future Care of Primary Teeth Treated with Silver Diammine Fluoride: A Private Dental Claims Review

The purpose of this study was to longitudinally evaluate follow-up treatment on primary teeth initially treated with silver diammine fluoride (SDF). This retrospective cohort evaluated private insurance (not Medicaid) claims data from 2018 to 2019 for ...
Downey, Timothy, Schlotz, John C., Maupomé, Gerardo, Eckert, George J., Sanders, Brian J., Yepes, Juan F., Scully, Allison C.   +6 more
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Epidemiology of Childhood Asthma in the UK

Journal of Asthma and Allergy
Imène Gouia,1 Florence Joulain,1 Yi Zhang,2 Christopher Ll Morgan,3 Asif H Khan4 1Health Economics and Value Assessment, Sanofi, Gentilly, France; 2Medical Affairs, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA; 3Epidemiology, Pharmatelligence Ltd ...
Gouia I, Joulain F, Zhang Y, Morgan CLl, Khan AH   +4 more
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, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Thalamo‐Lesional Connectivity Signatures of Bilateral Tonic–Clonic Seizures in Focal Cortical Dysplasia‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Focal cortical dysplasia (FCD) is the most common etiology of drug‐resistant epilepsy in children. Focal to bilateral tonic–clonic seizures (FBTCS) mark a high risk of drug‐resistant epilepsy and involve thalamocortical circuitry in their generation and propagation.
Hua Xie, Xiaotong Li, Venkata Sita Priyanka Illapani, Leigh N. Sepeta, Jason Schroeder, Chima O. Oluigbo, Madison M. Berl, William D. Gaillard, Nathan T. Cohen   +8 more
wiley   +1 more source

Fenichel's clinical pediatric neurology : a signs and symptoms approach /

Confidently diagnose and manage primary neurologic disorders of childhood with actionable, step-by-step assistance from Fenichel's Clinical Pediatric Neurology!
Piña-Garza, J. Eric(Jesus Eric),author., Preceded by (work):Fenichel, Gerald M.Clinical pediatric neurology.   +1 more
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Factors Associated with Molar-Incisor Hypomineralization: A Population-Based Case-Control Study

, 2020
Purpose: The purpose of this case-control study was to investigate the relationship between molar-incisor hypomineralization (MIH) and pre-, peri-, and postnatal conditions of children and mothers in South Korea.
김성오
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