Associated Papers
Proteogenomic characterization of invasive breast tumors in young women.
Raj-Kumar PK et al.
Npj Breast Cancer, 2025
40826002 (PubMed )
Supplement: 41523_2025_793_MOESM3_ESM.xlsx › S2E
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
36362641 (PubMed )
Supplement: jcm-11-06415-s001.zip › jcm-1964336-supplementary.pdf
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
Presymptomatic treatment of classic late-infantile neuronal ceroid lipofuscinosis with cerliponase alfa.
Schaefers J et al.
Orphanet Journal of Rare Diseases, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
Gardner E et al.
Human Mutation, 2019
Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation.
Chen ZR et al.
Seizure, 2019
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs.
Di Giacopo R et al.
Journal of the Neurological Sciences, 2015
Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients.
Pérez-Poyato MS et al.
Journal of Child Neurology, 2013
CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype.
Bessa C et al.
Molecular Genetics and Metabolism, 2008
Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2.
Leman AR et al.
Journal of Neuroscience Methods, 2006
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE et al.
Human Mutation, 1999
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