Structural variant calling using Sniffles2
Study Overview The research focuses on the evaluation of Sniffles2, a bioinformatics tool designed for detecting structural variants in genomic […]
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Reconstruction and validation of a short version of the scale for suspicion of psychogenic non-epileptic seizures in a Japanese cohort
Study Overview This research investigates the development and validation of a concise scale designed to identify suspected cases of psychogenic
Reconstruction and validation of a short version of the scale for suspicion of psychogenic non-epileptic seizures in a Japanese cohort
Study Overview The research focused on the development and assessment of a concise version of a diagnostic tool aimed at
Septin multimer autoantibodies in severe motor neuropathy mimicking lower motor neuron disease
Study overview This research investigates the presence of septin multimer autoantibodies in patients with severe motor neuropathy that resembles lower
Autoimmune nodopathy associated with contactin-2 antibodies manifesting as Guillain-Barré syndrome: a case report
Study Overview The research centered on a rare case of autoimmune nodopathy linked to the presence of contactin-2 antibodies, particularly
Inflammatory CADASIL: the cross-link between CADASIL and multiple sclerosis: a report of two cases and systematic review of the literature
Study Overview This study investigates the relationship between Inflammatory CADASIL and multiple sclerosis (MS) through a detailed examination of two
Inflammatory CADASIL: the cross-link between CADASIL and multiple sclerosis: a report of two cases and systematic review of the literature
Study Overview This study investigates the relationship between CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) and multiple
Charcot-Marie-Tooth disease type 1A with late onset
Overview of Charcot-Marie-Tooth Disease Type 1A Charcot-Marie-Tooth disease type 1A (CMT1A) is a hereditary neuropathy primarily affecting the peripheral nerves,
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Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Onset in Pregnancy: A Case Report
Study Overview This study investigates the onset of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease (MOGAD) during pregnancy, focusing particularly on the
Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Onset in Pregnancy: A Case Report
Clinical Presentation The case presentation involves a pregnant woman who experienced significant neurological symptoms, which marked the initial clinical manifestation