Results 211 to 220 of about 288,901 (266)

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

open access: yesAmerican 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   +9 more
wiley   +1 more source

Magnetic Resonance Imaging as a Complementary Diagnostic Tool for Aplastic Anemia

open access: yes
American Journal of Hematology, EarlyView.
Jeanette Walter   +6 more
wiley   +1 more source

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

open access: yesAnnals 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   +16 more
wiley   +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

open access: yesAnnals 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   +10 more
wiley   +1 more source

Perivascular spaces, diffusion MRI markers and cognitive decline in cerebral small vessel disease. [PDF]

open access: yesCereb Circ Cogn Behav
Solé-Guardia G   +11 more
europepmc   +1 more source

Tau Pathology in Alzheimer's Disease Uniquely Affects Sulcal Depths

open access: yesAnnals 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   +10 more
wiley   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria

open access: yesAnnals 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   +21 more
wiley   +1 more source

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