Results 61 to 70 of about 131,323 (382)

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases

Advanced Science, EarlyView.
Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh, Amir Tahavvori, Cyrus E. Kuschner, Blanca B. Espin, Jacob Kazmi, Sofhia V. Ramos, Tai Yin, Kei Hayashida, Kanako Ito‐Hagiwara, Yusuke Endo, Keitaro Yoshioka, Jun Hagiwara, Avijot Sohi, Alisha Oropallo, Ghania Haddad, Timmy Li, Lance B. Becker, Junhwan Kim   +17 more
wiley   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Timing of Peri‐Ictal MRI Abnormalities in Status Epilepticus – One Size Does Not Fit All

Annals of Neurology, EarlyView.
Objective We aimed to investigate timing of occurrence of peri‐ictal MRI abnormalities – a potential risk biomarker of status epilepticus‐related cerebral injury (t2). Methods This prospective study enrolled adult patients with status epilepticus and acute magnetic resonance imaging (MRI); patients with peri‐ictal MRI abnormalities underwent follow‐up ...
Pilar Bosque Varela, Lukas Machegger, Tanja Prüwasser, Wanda Lauth, Jürgen Steinbacher, Andreas Oellerer, Georg Zimmermann, Johannes Pfaff, Mark McCoy, Bernardo Crespo Pimentel, Markus Leitinger, Eugen Trinka, Giorgi Kuchukhidze   +12 more
wiley   +1 more source

The Neuroactive Steroid Pregnanolone Glutamate: Anticonvulsant Effect, Metabolites and Its Effect on Neurosteroid Levels in Developing Rat Brains

Pharmaceuticals, 2021
Pregnanolone glutamate (PA-G) is a neuroactive steroid that has been previously demonstrated to be a potent neuroprotective compound in several biological models in vivo.
Eva Kudova, Pavel Mares, Martin Hill, Katerina Vondrakova, Grygoriy Tsenov, Hana Chodounska, Hana Kubova, Karel Vales   +7 more
doaj   +1 more source

The effects of levetiracetam and a new 4-phenylpyrrolidone derivative GIZh-290 in a closed cross-maze in BALB/c and C57BL / 6 mice

Фармакокинетика и Фармакодинамика, 2017
The study was aimed to compare the psychopharmacological effects of 2 anticonvulsant drugs levetiracetam ((S)-2-(2-oxopyrrolidin-1-yl) butanamide) and the new compound, GIZh-290 (2-oxo-4-phenylpyrrolidine-1-yl) acetic acid) on behavioral spectra of ...
I. G. Kovalev, E. V. Vasileva, R. O. Bokov, R. M. Salimov, G. I. Kovalev   +4 more
doaj  

Evaluation of Clematis hedysarifolia DC. for potential anticonvulsant activity in Pentylenetetrazol and Strychnine induced convulsion in albino mice [PDF]

International Journal of Minor Fruits, Medicinal and Aromatic Plants
Juice of Clematis hedysarifolia DC, has been employed in the treatment of seizures and various neurological disorders. Research objective was to examine anticonvulsant effects of different solvent extracts of leaf and stem parts of Clematis hedysarifolia
Sonali Gawali
doaj   +1 more source

Comparison of Magnesium Sulphate Protocols by Weight-Adjusted Versus Two Grams Per Hour for Preventing Convulsion in Preeclampsia: A Randomised Controlled Trial [PDF]

Journal of Clinical and Diagnostic Research, 2019
Introduction: Magnesium Sulphate (MgSO4 ) is the most effective drug used for seizure prevention in preeclampsia; however, the dosage of MgSO4 is still in controversy.
Saowanee Tangmanowutthikul, Rawisara Champawong, Srisuda Songthamwat, Metha Songthamwat   +3 more
doaj   +1 more source

Studies on the Anticonvulsant Activity and Influence on GABA-ergic Neurotransmission of 1,2,4-Triazole-3-thione-Based Compounds

Molecules, 2014
The anticonvulsant activity of several 1,2,4-triazole-3-thione derivatives on mouse maximal electroshock-induced seizures was tested in this study.
T. Plech, B. Kaproń, J. Łuszczki, M. Wujec, Agata Paneth, A. Siwek, M. Kołaczkowski, M. Żołnierek, G. Nowak   +8 more
semanticscholar   +1 more source

Impaired biotin status in anticonvulsant therapy [PDF]

, 1982
In 264 epileptics undergoing long-term therapy with anticonvulsants, significantly reduced plasma biotin levels were found compared with a normal control group: 74% of the epileptics had biotin levels for those treated with sodium valproate were higher ...
Bonjour, Charles, Cowan, Frigg, Krause, Patsalos, Sander, Thoene   +7 more
core   +1 more source