Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses-Reference-Cited by-同舟云学术

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Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses

Published:2012-10 Issue:9 Volume:34 Page:739-745
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Chang Xingzhi,Huang Yu,Meng Hongdi,Jiang Yuwu,Wu Ye,Xiong Hui,Wang Shuang,Qin Jiong

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference21 articles.

1. Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations;Simonati;Pediatr Neurol,2009

2. Neuronal ceroid lipofuscinoses;Jalanko;Biochim Biophys Acta,2009

3. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis;Reinhardt;Clin Genet,2010

4. Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6;Cannelli;Biochem Biophys Res Commun,2009

5. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis;Aiello;Hum Mutat,2009

Cited by 9 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. Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group;Arquivos de Neuro-Psiquiatria;2023-03

2. Identification of a TPP1 Q278X Mutation in an Iranian Patient with Neuronal Ceroid Lipofuscinosis 2: Literature Review and Mutations Update;Journal of Clinical Medicine;2022-10-29

3. CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses;Genes;2022-08-05

4. Myoclonus‐Ataxia Syndromes: A Diagnostic Approach;Movement Disorders Clinical Practice;2020-11-03

5. Clinical phenotype features and genetic etiologies of 38 children with progressive myoclonic epilepsy;Acta Epileptologica;2020-09-02

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