Associated Papers
Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses.
Biglari S et al.
Human Genetics, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2026
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
CLN2 Disease: Current Understandings, Challenges, and Future Directions.
Shock M et al.
Journal of Child Neurology, 2026
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 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
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
Cracking rare disorders: a new minimally invasive RNA-seq protocol.
De Cock L et al.
Npj Genomic Medicine, 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
Enzyme Replacement Therapy in CLN2-Associated Retinopathy.
Priglinger C et al.
Klinische Monatsblatter Fur Augenheilkunde, 2025
Real-world clinical outcomes of patients with CLN2 disease treated with cerliponase alfa.
Schulz A et al.
Frontiers in Neurology, 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
Trio exome analysis is a valuable tool for genetic diagnosis of epilepsy in Mali.
Bamba S et al.
Genetics in Medicine Open, 2025
Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.
Santos BV et al.
Neuropediatrics, 2024
A comprehensive analysis of germline predisposition to early-onset ovarian cancer.
Horackova K et al.
Scientific Reports, 2024
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.
Lourenço CM et al.
Arquivos De Neuro-psiquiatria, 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
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice.
Takahashi K et al.
Biorxiv : the Preprint Server for Biology, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 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
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 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
Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.
Grigalionienė K et al.
Orphanet Journal of Rare Diseases, 2023
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
Assessment of Safety and Biodistribution of AAVrh.10hCLN2 Following Intracisternal Administration in Nonhuman Primates for the Treatment of CLN2 Batten Disease.
De BP et al.
Human Gene Therapy, 2023
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations.
Panjeshahi S et al.
Human Genetics, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model.
Knoernschild K et al.
Scientific Reports, 2023
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.
Krygier M et al.
Frontiers in Genetics, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 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
Genetics of Pediatric Epilepsy: Next-Generation Sequencing in Clinical Practice.
Blazekovic A et al.
Genes, 2022
Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series.
Ben Younes T et al.
Clinical Genetics, 2022
Natural History Studies in NCL and Their Expanding Role in Drug Development: Experiences From CLN2 Disease and Relevance for Clinical Trials.
Nickel M et al.
Frontiers in Neurology, 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