Associated Papers
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1
Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus.
Eto K et al.
Molecular Genetics and Metabolism Reports, 2023
Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.
Turkdogan D et al.
The International Journal of Neuroscience, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 2020
32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ053
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study.
Levin SW et al.
The Lancet. Neurology, 2014
Structural basis of neuronal ceroid lipofuscinosis 1.
Ohno K et al.
Brain & Development, 2010
Abstracts of the XLVII International Symposium of the ISCEV (International Society for Clinical Electrophysiology of Vision). Abano Terme-Padova, Italy. July 6-10, 2009.
Unknown Author
Documenta Ophthalmologica. Advances in Ophthalmology, 2009
[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis].
Bi HY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
Mole SE et al.
Neurogenetics, 2005
Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.
Das AK et al.
Human Molecular Genetics, 2001
Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE et al.
Human Mutation, 1999
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
Das AK et al.
The Journal of Clinical Investigation, 1998
Mutations in palmitoyl-protein thioesterase 1 alter exocytosis and endocytosis at synapses in Drosophila larvae.
Aby E et al.
Fly, 0
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