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Found 12 publications

Patient-Derived Induced Pluripotent Stem Cell Models for Phenotypic Screening in the Neuronal Ceroid Lipofuscinoses.

Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family.

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.

The bacterial toxin ExoU requires a host trafficking chaperone for transportation and to induce necrosis.

Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2).

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.

Generation of cryopreserved macrophages from normal and genetically engineered human pluripotent stem cells for disease modelling.

Human INCL fibroblasts display abnormal mitochondrial and lysosomal networks and heightened susceptibility to ROS-induced cell death.

Review of Cerliponase Alfa: Recombinant Human Enzyme Replacement Therapy for Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2.

Immunogenicity to cerliponase alfa intracerebroventricular enzyme replacement therapy for CLN2 disease: Results from a Phase 1/2 study.

Study of Intraventricular Cerliponase Alfa for CLN2 Disease.

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