Reevaluation of Neuronal Ceroid Lipofuscinoses: Atypical Juvenile Onset May Be the Result of CLN2 Mutations-Reference-Cited by-同舟云学术

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Reevaluation of Neuronal Ceroid Lipofuscinoses: Atypical Juvenile Onset May Be the Result of CLN2 Mutations

Published:1999-04 Issue:4 Volume:66 Page:248-252
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Wisniewski K.E.,Kaczmarski A.,Kida E.,Connell F.,Kaczmarski W.,Michalewski M.P.,Moroziewicz D.N.,Zhong N.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference16 articles.

1. Mutations in the palmitoyl-protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis;Vesa;Nature,1995

2. Molecular genetics of palmitoyl-protein thioesterase deficiency in the US;Das;J Clin Invest,1998

3. Genotype/phenotype correlation in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency;Hofmann;Mol Genet Metab,1999

4. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis;Sleat;Science,1997

5. Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene;Hartikainen;Mol Genet Metab,1999

Cited by 34 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series;Journal of Child Neurology;2020-12-23

2. Homozygous missense TPP1 mutation associated with mild late infantile neuronal ceroid lipofuscinosis and the genotype-phenotype correlation;Seizure;2019-07

3. Childhood Neurodegenerative Disorders;Advances in Medical Diagnosis, Treatment, and Care;2019

4. Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis;Journal of Child Neurology;2018-09-28

5. Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates;Contemporary Clinical Trials;2013-07

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