Results 111 to 120 of about 3,366,641 (267)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina   +11 more
wiley   +1 more source

General Internal Medicine

open access: yesJournal of the Royal College of Physicians of London, 1986
R C, King, C, Davidson
openaire   +2 more sources

Reperfusion‐Dependent Outcomes After Endovascular Thrombectomy Stratified by NIHSS‐ASPECTS Clinical‐Core Mismatch

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This analysis evaluates the effect of successful reperfusion on functional outcomes after MT, stratified by admission National Institutes of Health Stroke Scale (NIHSS) and Alberta Stroke Program Early CT Score (ASPECTS) as surrogates for clinical‐core mismatch, using multicenter registry data.
Felix Schlicht   +53 more
wiley   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao   +7 more
wiley   +1 more source

IV Thrombolysis Facilitates Interventional Reperfusion in Non‐Cardioembolic but Not Cardioembolic Stroke

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Intravenous thrombolysis (IVT) before thrombectomy for ischemic stroke may alter clot structure and procedural performance. We investigated how IVT relates to thrombectomy metrics across stroke etiologies. Methods We performed a time‐to‐event analysis of consecutive patients with anterior circulation large vessel occlusion (acLVO ...
Annahita Sedghi   +8 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza   +19 more
wiley   +1 more source

Commentary: Internal medicine at the crossroads of long COVID diagnosis and management. [PDF]

open access: yesFront Med (Lausanne)
Spanoghe M   +12 more
europepmc   +1 more source

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