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Last Updated: 01/20/2023

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Found 15 publications

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment.

Condition: Classic Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease)
Journal: F1000Research
Treatment Used: Enzyme Replacement Therapy
Number of Patients: 0
Published: February 03, 2022

Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.

Journal: Orphanet journal of rare diseases
Published: January 11, 2022

Towards Splicing Therapy for Lysosomal Storage Disorders: Methylxanthines and Luteolin Ameliorate Splicing Defects in Aspartylglucosaminuria and Classic Late Infantile Neuronal Ceroid Lipofuscinosis.

Journal: Cells
Published: November 27, 2021

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

Journal: Molecules (Basel, Switzerland)
Published: October 23, 2021

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

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
Published: September 05, 2021

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

Journal: PloS one
Published: September 01, 2021

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

Journal: Genes
Published: July 02, 2021

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

Journal: Nature communications
Published: June 30, 2021

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).

Journal: Orphanet journal of rare diseases
Published: May 13, 2021

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

Journal: Orphanet journal of rare diseases
Published: April 22, 2021

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

Journal: PloS one
Published: April 22, 2021

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

Journal: PloS one
Published: February 09, 2021
Showing 1-12 of 15

Last Updated: 01/20/2023