Results 141 to 150 of about 102,616 (265)

Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno   +5 more
wiley   +1 more source

Clinical Characteristics and Treatment Management of Seronegative Myasthenia Gravis: A Systematic Review of the Literature

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Seronegative myasthenia gravis (SNMG) is characterized by the absence of detectable autoantibodies against known MG targets, despite clinical and electrophysiological evidence of a postsynaptic neuromuscular junction disorder. The aim of this systematic review was to better define clinical features, diagnostic clues and treatment outcome of ...
Massimiliano Ugo Verza   +6 more
wiley   +1 more source

Global trends in epilepsy and the Chinese experience: Epidemiological transitions, underlying mechanisms, and integrated strategies (1990–2021)

open access: yesNeuroprotection, EarlyView.
Epilepsy: Global Trends and the Chinese Experience (1990–2021). The infographic depicts (left) the global distribution of age‐standardized epilepsy DALY rates; (center) the triple inequality gap within China, including regional mortality disparities (9‐fold difference between western and eastern provinces), urban‐rural treatment gaps (60%–90%), and ...
Ting Chen   +7 more
wiley   +1 more source

Preoperatively Diagnosed Versus Undiagnosed Major Salivary Gland Cancer: Clinicopathological Characteristics, Treatment Strategies, and Oncological Outcomes

open access: yesOtolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To evaluate differences in clinicopathological characteristics, treatment strategies, and oncological outcomes between preoperatively diagnosed and undiagnosed major salivary gland cancers (MSGCs). Study Design Retrospective cohort study. Setting A single tertiary academic hospital. Methods Surgically confirmed MSGCs between 2012 and
Dongbin Ahn   +4 more
wiley   +1 more source

Amphetamines: a current epidemic

open access: yesFrontiers in Psychiatry
Norman Miller
doaj   +1 more source

Misdiagnosis of superior sulcus tumours: a scoping review. [PDF]

open access: yesJ Thorac Dis
Wilkinson M   +3 more
europepmc   +1 more source

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