Literature DB >> 20820830

A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis.

Yu-Liang Wang, Zhi-Yong Zeng, Xing-Wang Song, Zhuo-Fang Hao, Yi-Wu Shi, Bin Tang, Sheng-Qiang Chen, Mei-Mei Gao, Wei Di, Yue-Sheng Long, Yong-Hong Yi, Wei-Ping Liao.   

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Year:  2010        PMID： 20820830     DOI： 10.1007/s10048-010-0258-1

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   3.017


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  6 in total

Review 1.  The neuronal ceroid-lipofuscinoses.

Authors:  Matti Haltia
Journal:  J Neuropathol Exp Neurol       Date:  2003-01       Impact factor: 3.685

Review 2.  Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Authors:  Sara E Mole; Ruth E Williams; Hans H Goebel
Journal:  Neurogenetics       Date:  2005-09-28       Impact factor: 2.660

3.  Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.

Authors:  D E Sleat; R J Donnelly; H Lackland; C G Liu; I Sohar; R K Pullarkat; P Lobel
Journal:  Science       Date:  1997-09-19       Impact factor: 47.728

4.  Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.

Authors:  D E Sleat; R M Gin; I Sohar; K Wisniewski; S Sklower-Brooks; R K Pullarkat; D N Palmer; T J Lerner; R M Boustany; P Uldall; A N Siakotos; R J Donnelly; P Lobel
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

5.  Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.

Authors:  Robert Steinfeld; Peter Heim; Henning von Gregory; Kerstin Meyer; Kurt Ullrich; Hans H Goebel; Alfried Kohlschütter
Journal:  Am J Med Genet       Date:  2002-11-01

6.  Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis.

Authors:  N D Rawlings; A J Barrett
Journal:  Biochim Biophys Acta       Date:  1999-01-11
  6 in total
  5 in total

1.  A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.

Authors:  Feng Yu; Xiao-Min Liu; Yin-He Chen; Sheng-Quan Zhang; Kai Wang
Journal:  Neurol Sci       Date:  2015-06-02       Impact factor: 3.307

2.  Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.

Authors:  Zhijie Gao; Hua Xie; Qian Jiang; Nan Wu; Xiaoli Chen; Qian Chen
Journal:  BMC Med Genet       Date:  2018-02-08       Impact factor: 2.103

3.  Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.

Authors:  Emily Gardner; Mitch Bailey; Angela Schulz; Mikel Aristorena; Nicole Miller; Sara E Mole
Journal:  Hum Mutat       Date:  2019-07-26       Impact factor: 4.878

4.  CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses.

Authors:  Rajech Sharkia; Abdelnaser Zalan; Hazar Zahalka; Amit Kessel; Ayman Asaly; Wasif Al-Shareef; Muhammad Mahajnah
Journal:  Genes (Basel)       Date:  2022-08-05       Impact factor: 4.141

5.  Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2.

Authors:  Sui-Bing Miao; Hui Guo; De-Xian Kong; Yuan-Yuan Zhao; Shu-Hong Pan; Yan Jiang; Xing Gao; Xiao-Hua Wu
Journal:  Front Genet       Date:  2022-08-31       Impact factor: 4.772
  5 in total

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