Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants inTPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)-Reference-Cited by-同舟云学术

Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants inTPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

Published:2013-03-11 Issue:5 Volume:34 Page:706-713
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Sun Yu¹,Almomani Rowida¹,Breedveld Guido J.²,Santen Gijs W.E.¹,Aten Emmelien¹,Lefeber Dirk J.,Hoff Jorrit I.³,Brusse Esther⁴,Verheijen Frans W.²,Verdijk Rob M.⁵,Kriek Marjolein¹,Oostra Ben²,Breuning Martijn H.¹,Losekoot Monique¹,den Dunnen Johan T.¹,van de Warrenburg Bart P.⁶,Maat-Kievit Anneke J.A.²

Affiliation:

1. Center for Human and Clinical Genetics; Leiden University Medical Center; Leiden; The Netherlands

2. Department of Clinical Genetics; Erasmus Medical Center Rotterdam; Rotterdam; The Netherlands

3. Department of Neurology; St.; Antonius Hospital; Nieuwegein; The Netherlands

4. Department of Neurology; Erasmus Medical Center Rotterdam; Rotterdam; The Netherlands

5. Department of Pathology; Erasmus Medical Center; Rotterdam; The Netherlands

6. Department of Neurology; Radboud University Nijmegen Medical Centre; Donders Institute for Brain; Cognition and Behavior; Nijmegen; The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference37 articles.

1. CLN2/TPP1 deficiency: the novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype;Bessa;Mol Genet Metab,2008

2. A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15;Breedveld;J Med Genet,2004

3. Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome;Chao;Clin Genet,2010

4. MouseFinder: candidate disease genes from mouse phenotype data;Chen;Hum Mutat,2012

5. Human Splicing Finder: an online bioinformatics tool to predict splicing signals;Desmet;Nucleic Acids Res,2009

Cited by 69 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. The natural history of progressive myoclonus ataxia;Neurobiology of Disease;2024-09

2. From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice;European Journal of Paediatric Neurology;2024-01

3. TPP1 Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2;Molecular Syndromology;2023-10-16

4. Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report;World Journal of Clinical Cases;2023-09-26

5. Mn²⁺/Ir³⁺‐Doped and CaCO₃‐Covered Prussian Blue Nanoparticles with Indocyanine Green Encapsulation for Tumor Microenvironment Modulation and Image‐Guided Synergistic Cancer Therapy;Advanced Healthcare Materials;2023-09-10