Results 191 to 200 of about 499,043 (226)

Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1

open access: yesMuscle &Nerve, Volume 74, Issue S1, Page S58-S64, September 2026.
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

A Protocol for Reconstructing Complex Lateral Skull Base Defects: Two Decades of Tertiary Care Experience

open access: yesOtolaryngology–Head and Neck Surgery, Volume 175, Issue 3, Page 587-593, September 2026.
Abstract Objective To describe a multidisciplinary protocol for the resection and reconstruction of complex lateral skull base pathology, based on over two decades of experience in a high‐volume tertiary referral center in the United Kingdom. Study Design Retrospective descriptive analysis of institutional practice. Setting A high‐volume tertiary skull
Muhammad Umar Farooq   +8 more
wiley   +1 more source

Test Your Knowledge: Posterior Cranial Fosse

open access: yes
This submission is a case based "Test your knowledge" with a real life patient application. This multiple choice question is crafted around bony anatomy of the skull, specifically the posterior cranial fossae.American Academy of Ophthalmology.
Walter T. Moore
core  

Pattern of sensory processing disorder in school‐aged preterm children with attention‐deficit hyperactivity disorder

open access: yesPsychiatry and Clinical Neurosciences Reports, Volume 5, Issue 3, September 2026.
Preterm children show high attention‐deficit/hyperactivity disorder (ADHD) prevalence and frequent sensory processing alterations. ADHD is associated with more severe impairments, particularly in sensory sensitivity, auditory processing, and behavioral domains.
Marina Estima Neiva Nunes   +6 more
wiley   +1 more source

Isolated Central Nervous System Tuberculosis‐Associated Immune Reconstitution Inflammatory Syndrome—Case Report and Literature Review

open access: yesRespirology Case Reports, Volume 14, Issue 9, September 2026.
Disseminated tuberculosis in an immunocompetent young male initially improved with anti‐tuberculosis therapy. Early treatment was complicated by drug‐induced liver injury and paradoxical isolated CNS‐TB‐IRIS with new intracranial lesions despite systemic disease regression.
Mithen Ravisankar   +6 more
wiley   +1 more source

Age-Related Risk of Stroke Following Ocular Motor Cranial Nerve Palsy. [PDF]

open access: yesJ Am Heart Assoc
Choi DD   +5 more
europepmc   +1 more source

Delayed Occurrence of Lung Cancer Leptomeningeal Metastasis and Era‐Associated Post‐LM Survival: A 14‐Year Single‐Center Cohort Study

open access: yesThoracic Cancer, Volume 17, Issue 17, September 2026.
In 201 cytology‐confirmed lung cancer LM cases, the modern era was associated with later LM diagnosis but no significant unadjusted improvement in post‐LM survival. Paired tissue‐CSF profiling identified actionable driver discordance in 8.75%, supporting CSF testing and improved CNS‐penetrant, molecularly matched therapies.
Xiaoxing Gao   +12 more
wiley   +1 more source

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