Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
SIMULTANEOUS RESPIRATORY EXCHANGE AND BLOOD SUGAR TIME CURVES OBTAINED IN DIABETIC AND NON DIABETIC INDIVIDUALS FOLLOWING INGESTION OF GLUCOSE [PDF]
, 1925 I. M. Rabinowitch +2 more
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BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach +11 more
wiley +1 more source
The Degradation of Glucose by the Blood Corpuscle of the Rabbit [PDF]
, 1926 J. T. Irving
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Paroxysmal Dyskinesias Secondary to HHV‐6A Encephalitis: The First Case Report and Literature Review
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Paroxysmal dyskinesias encompasses a spectrum of conditions marked by intermittent involuntary movements, with paroxysmal kinesigenic dyskinesias being the most common phenotype. Central nervous system infection is a rare cause of paroxysmal dyskinesias.
Zhuoran Wang +5 more
wiley +1 more source
THE INTERACTION OF GLUCAGON AND INSULIN ON BLOOD GLUCOSE [PDF]
, 1956 Harold Elrick +3 more
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Correlation Between Irisin and Cognitive Functions in Alzheimer Dementia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The myokine irisin, a recent positive mediator of exercise in the brain, shows neuroprotective functions against Alzheimer's disease (AD). The association between irisin and cognition has never been explored in a biologically defined cohort of patients.
Patrizia Pignataro +12 more
wiley +1 more source
Nutritional Status of the Aging II. Blood Glucose Levels [PDF]
, 1955 Helen L. Gillum +2 more
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Purpose This study aimed to explore the association between quantitative shape irregularity and density heterogeneity of hematomas and hematoma expansion (HE) for intracerebral hemorrhage (ICH) patients. Methods This cohort study included patients arriving within 24 h of symptom onset between August 2021 and July 2022 as the derivation cohort ...
Zeqiang Ji +11 more
wiley +1 more source
THE CEREBRAL BLOOD FLOW IN MALE SUBJECTS AS MEASURED BY THE NITROUS OXIDE TECHNIQUE. NORMAL VALUES FOR BLOOD FLOW, OXYGEN UTILIZATION, GLUCOSE UTILIZATION, AND PERIPHERAL RESISTANCE, WITH OBSERVATIONS ON THE EFFECT OF TILTING AND ANXIETY 1 [PDF]
, 1949 Peritz Scheinberg, Eugene A. Stead
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