Results 151 to 160 of about 1,253,356 (303)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó   +17 more
wiley   +1 more source

Serum Neurofilament Light Chain in Multiple Sclerosis: Superiority of Age‐ and BMI‐Corrected Z Scores/Percentiles Over Absolute Cutoff Values for Prediction of Treatment Response

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Prognostication of disease course and prediction of treatment response in multiple sclerosis is an unmet need. We compared the performance of serum neurofilament light chain Z scores (age‐ and BMI‐adjusted) with absolute concentrations for the prediction of response to disease‐modifying therapy.
Maximilian Einsiedler   +43 more
wiley   +1 more source

Rabies encephalitis following Post Exposure prophylaxis (PEP) is becoming an evolving problem in Bangladesh

open access: yesThe Microbe
Rabies is one of the oldest and deadliest disease in the world and causes a significant number of deaths. Over 95 % of all human deaths from rabies occur in Asia and Africa. Bangladesh is endemic to rabies.
Shrebash Paul   +12 more
doaj  

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