Associated Papers
CLN2 Disease: Current Understandings, Challenges, and Future Directions.
Shock M et al.
Journal of Child Neurology, 2026
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Cerliponase alfa therapy leads to long-term seizure freedom in a patient with late infantile neuronal ceroid lipofuscinosis.
Datta AN et al.
Seizure, 2025
Recreating pathophysiology of CLN2 disease and demonstrating reversion by TPP1 gene therapy in hiPSC-derived retinal organoids and retina-on-chip.
Corti S et al.
Cell Reports. Medicine, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Abstracts of the 62nd annual symposium of the international society for clinical electrophysiology of vision (ISCEV 2025), Utrecht, the Netherlands.
Unknown Author
Documenta Ophthalmologica. Advances in Ophthalmology, 2025
Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision Diagnostics.
Teker B et al.
International Journal of Molecular Sciences, 2025
Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2.
Priglinger CS et al.
Neuropediatrics, 2025
Enzyme Replacement Therapy in CLN2-Associated Retinopathy.
Priglinger C et al.
Klinische Monatsblatter Fur Augenheilkunde, 2025
Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy.
Bryzik A et al.
Frontiers in Genetics, 2025
The natural history of progressive myoclonus ataxia.
van der Veen S et al.
Neurobiology of Disease, 2024
First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy.
Wawrzynski J et al.
Eye (london, England), 2024
A computational approach to analyzing the functional and structural impacts of Tripeptidyl-Peptidase 1 missense mutations in neuronal ceroid lipofuscinosis.
K P et al.
Metabolic Brain Disease, 2024
Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.
Guelbert N et al.
Molecular Genetics and Metabolism Reports, 2024
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.
De Wachter M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
Twenty-Year Survival Analysis of Adeno-Associated Virus Vector Serotype 2-Mediated Gene Therapy to the Central Nervous System for CLN2 Disease.
Sondhi D et al.
Human Gene Therapy, 2024
Peripapillary Retinal Nerve Fiber Layer (pRNFL) Thickness - A Novel Biomarker of Neurodegeneration in Late-Infantile CLN2 Disease.
Gkalapis N et al.
Eye and Brain, 2024
Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease).
Dulz S et al.
The British Journal of Ophthalmology, 2023
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Buffy Coat Score as a Biomarker of Treatment Response in Neuronal Ceroid Lipofuscinosis Type 2.
Sivananthan S et al.
Brain Sciences, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update.
Baranzehi T et al.
Journal of Clinical Medicine, 2022
A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes.
Swier VJ et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2022
The LINCE Project: A Pathway for Diagnosing NCL2 Disease.
Rodrigues D et al.
Frontiers in Pediatrics, 2022
Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.
Guelbert G et al.
Frontiers in Neurology, 2022
Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.
Ługowska A et al.
Life (basel, Switzerland), 2021
Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies.
Mazurkiewicz-Bełdzińska M et al.
Expert Review of Neurotherapeutics, 2021
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Towards Splicing Therapy for Lysosomal Storage Disorders: Methylxanthines and Luteolin Ameliorate Splicing Defects in Aspartylglucosaminuria and Classic Late Infantile Neuronal Ceroid Lipofuscinosis.
Banning A et al.
Cells, 2021
An ERG and OCT study of neuronal ceroid lipofuscinosis CLN2 Battens retinopathy.
Thompson DA et al.
Eye (london, England), 2021
Automated Retinal Layer Segmentation in CLN2-Associated Disease: Commercially Available Software Characterizing a Progressive Maculopathy.
Kovacs KD et al.
Translational Vision Science & Technology, 2021
"Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series".
Espitia Segura OM et al.
Molecular Genetics and Metabolism Reports, 2021
Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa.
Schaefers J et al.
Orphanet Journal of Rare Diseases, 2021
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series.
Wibbeler E et al.
Journal of Child Neurology, 2021
Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease.
Ma L et al.
Stem Cell Research, 2021
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
Gardner E et al.
Frontiers in Neurology, 2021
Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment.
Iwan K et al.
F1000research, 2021
Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2.
Sondhi D et al.
Science Translational Medicine, 2020
Neuronal ceroid lipofuscinosis type 2: an Australian case series.
Johnson AM et al.
Journal of Paediatrics and Child Health, 2020
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
Amadori E et al.
Italian Journal of Pediatrics, 2020
Symmetric Age Association of Retinal Degeneration in Patients with CLN2-Associated Batten Disease.
Kovacs KD et al.
Ophthalmology. Retina, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Gardner E et al.
Human Mutation, 2019