Results 161 to 170 of about 182,408 (279)

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

Deep Learning Reconstruction for ¹²⁹Xe Diffusion-Weighted MRI Enables Use of Natural Abundant Xenon and Improved Image Acceleration. [PDF]

Magn Reson Med
Sundaresan R, Collier GJ, Stewart NJ, Chatterjee S, Venkatesan R, Wolber J, Wild JM.   +6 more
europepmc   +1 more source

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

Annals of Neurology, EarlyView.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi, Claudia Marina Vargiu, Brian S. Appleby, Marcelo Barria, Giuseppe Mario Bentivenga, Ignazio Calì, Benedetta Carlà, Mark Cohen, Armin Giese, Jochen Herms, Aino‐Minerva Kortelainen, Anna Ladogana, Angela Mammana, Diane Ritchie, Otto Windl, Sabina Capellari, Piero Parchi   +16 more
wiley   +1 more source

Cerebral Embolic Protection During Transcatheter Aortic Valve Replacement: A Systematic Review of Effects on Diffusion-Weighted MRI Lesions, Clinical Stroke, and Early Cognition. [PDF]

Cureus
Khan FR, Ullah A, Akbar F, Aslam K, Alishan S, Ali I.   +5 more
europepmc   +1 more source

DNase1 RS1053874 Polymorphism is Associated with Early Neurological Recovery through NET Modulation and with Long‐Term Survival in Ischemic Stroke: A Prospective Cohort Study

Annals of Neurology, EarlyView.
Objective Immunothrombosis contributes to ischemic stroke pathophysiology through neutrophil extracellular trap (NET) formation, which promotes thrombus stabilization and microvascular dysfunction. DNase1 is the principal endonuclease responsible for NET degradation.
B. Díaz‐Benito, P. Calleja, L. Alzamora, A. Ruiz‐García, A. Martínez‐Salio, M. Muñoz‐García, F. Ostos, A. García‐Culebras, A. Moraga, M.A. Moro, I. Lizasoain   +10 more
wiley   +1 more source

Diagnostic performance of amide proton transfer-weighted imaging and four advanced diffusion-weighted MRI models for meningioma grading and subtyping. [PDF]

Cancer Imaging
Zhang H, Huang H, Pan Y, Tian M, Lin G, Xiong L, Su Y, Zhao X, Guo W, She D.   +9 more
europepmc   +1 more source

Tau Pathology in Alzheimer's Disease Uniquely Affects Sulcal Depths

Annals of Neurology, EarlyView.
Objective Though it is widely known that tau deposition affects brain structure, the precise localization of these effects is poorly understood, especially in relation to gyral and sulcal anatomy. We investigated whether tau pathology in Alzheimer's disease (AD) preferentially affects sulci, and particularly sulcal depths.
Samira A. Maboudian, Corrina S. Fonseca, Adam C. Martersteck, Yishu Chao, Yuheng Chen, Daniela Ushizima, Duygu Tosun, Lea T. Grinberg, Kevin S. Weiner, William J. Jagust, for the Alzheimer's Disease Neuroimaging Initiative   +10 more
wiley   +1 more source

Predicting lesion reversal in acute cerebral ischaemia via apparent diffusion coefficient threshold on diffusion-weighted MRI. [PDF]

Eur Radiol
Skattør TH, Bjørnerud A, Nome T, Bakke KM, Enriquez BA, Digernes I, Offersen CM, Beyer MK, Ringstad G, Aamodt AH.   +9 more
europepmc   +1 more source

Magnetic Resonance Imaging as a Complementary Diagnostic Tool for Aplastic Anemia

American Journal of Hematology, EarlyView.
Jeanette Walter, Peter Isfort, Susanne Isfort, Jens Panse, Katharina Lindemann‐Docter, Tim H. Brümmendorf, Fabian Beier   +6 more
wiley   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria

Annals of Neurology, EarlyView.
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Abbe Lai, Jennifer E. Neil, Shyam K. Akula, Dina Amrom, Eva Andermann, Ann Bergin, Roberto Caraballo, Allen Y. Chen, John Gaitanis, Ganeshwaran H. Mochida, Jill M. Gotoff, Giorgi Kuchukhidze, Daphna Marom, Christelle Moufawad ElAchkar, Miriam Regev, Lance H. Rodan, Heather Olson, Bo Zhang, Annapurna Poduri, Diane D. Shao, Christopher A. Walsh, Edward Yang   +21 more
wiley   +1 more source