Results 201 to 210 of about 148,938 (327)

Aberrant adenosine A<sub>2A</sub> receptor signaling in the choroid plexus drives CSF hypersecretion and ventriculomegaly in hydrocephalus. [PDF]

open access: yesNat Commun
Zheng W   +15 more
europepmc   +1 more source

Natural‐History Mapping of Lysosomal Storage Disorders (LSDs): Gaucher Disease as a Model for Precision Care

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Natural‐history datasets have become pivotal for drug development and for shaping clinical‐practice guidelines in rare diseases, yet many lysosomal storage disorders would benefit from deep phenotyping and modern analytic methods. Our objective was to integrate the past decade of genomic, cellular, treatment‐outcome, and regulatory advances ...
Noor Ul Ain   +2 more
wiley   +1 more source

Effect on the Regional Cerebral Blood Flow and Biomechanical Factors in Ventricular Enlargement of Experimental Hydrocephalus.

open access: green, 1990
Kim Dj   +12 more
openalex   +1 more source

Genetic signatures of responsiveness in idiopathic normal pressure Hydrocephalus: Insights from whole-exome and LASSO-based analysis

open access: gold
Tomáš Moravec   +7 more
openalex   +1 more source

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza   +3 more
wiley   +1 more source

The management of pediatric Chiari I malformation with concomitant hydrocephalus: a multicenter retrospective analysis. [PDF]

open access: yesChilds Nerv Syst
Greuter L   +24 more
europepmc   +1 more source

Longitudinal comparison of diffusion tensor imaging parameters and neuropsychological measures following endoscopic third ventriculostomy for hydrocephalus

open access: green, 2012
Robert T. Buckley   +9 more
openalex   +1 more source

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