Results 241 to 250 of about 142,542 (339)

The Genetic Basis of Hydrocephalus.

open access: yesAnnual Review of Neuroscience, 2016
M. Kousi, N. Katsanis
semanticscholar   +1 more source

A posterior fossa mass in a 4‐year‐old female

open access: yes
Brain Pathology, Volume 35, Issue 6, November 2025.
Vy Huynh   +9 more
wiley   +1 more source

AQP4‐ab‐Positive Neuromyelitis Optica Spectrum Disorder Increases the Risk of Hydrocephalus: A Bidirectional Mendelian Randomization Study

open access: yesBrain and Behavior, Volume 15, Issue 10, October 2025.
This study employed Mendelian randomization (MR) analysis to investigate the causal relationship between AQP4‐antibody‐positive neuromyelitis optica spectrum disorder (NMOSD) and hydrocephalus. Using genetic variants as instrumental variables, we analyzed data from the GWAS Catalog (N_case = 132, N_control = 1244) for AQP4‐positive NMOSD exposure and ...
Weitao Zhong   +5 more
wiley   +1 more source

Delayed TSC Diagnosis Presenting as End‐Stage Renal Disease With Renal and Hepatic Angiomyolipoma: Case Report and Review

open access: yesClinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Tuberous sclerosis complex (TSC) is a rare and complex autosomal dominant disease. Many patients with TSC may remain undiagnosed for years due to its widespread and heterogeneous clinical presentation, with only 1% of TSC patients developing end‐stage renal disease (ESRD).
Changlin Wei   +5 more
wiley   +1 more source

Vestibular schwannomas and papilledema without hydrocephalus: a case report. [PDF]

open access: yesFront Oncol
Calderón-Moreno R   +2 more
europepmc   +1 more source

COL4A1‐Related Leukoencephalopathy and Microangiopathy: A Case Series of Two Palestinian Siblings

open access: yesClinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT We report two Palestinian siblings with a pathogenic COL4A1 mutation, presenting with congenital cataracts, seizures, developmental delay, and antenatal intracerebral hemorrhages. Despite sharing the same genetic variant, they exhibited striking phenotypic variability.
Thkra Meshal   +7 more
wiley   +1 more source

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