Related Experiment Videos

Alexander disease and intermediate filaments in astrocytes: a fatal gain of function

¹Centre for Metabolic Disease, Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium. jaak.jaeken@uz.kuleuven.ac.be

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society

|October 6, 2001

Abstract

No abstract available in PubMed .

Related Concept Videos

Articles linked to this work by shared authors, journal, and citation graph.

CDG due to Defective Membrane Transporters: Update.

Journal of inherited metabolic disease·2026

From Burden to Empowerment. Patient-Reported Influencing Factors on Participation in Shared Decision Making in Oncology, a Meta-Study.

Psycho-oncology·2025

Shared challenges and opportunities: Uncovering common ground in patient participation across different healthcare settings and patient groups. A qualitative meta-summary on patient-reported barriers and facilitators to participation in shared decision-making.

Patient education and counseling·2024

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.

Orphanet journal of rare diseases·2022

Assessing the effects of PMM2 variants on protein stability.

Molecular genetics and metabolism·2021

The challenge of CDG diagnosis.

Molecular genetics and metabolism·2018

See all related articles