Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia-Reference-Cited by-同舟云学术

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

Published:2014-05-02 Issue:18 Volume:23 Page:4859-4874
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Pérez-Brangulí Francesc,Mishra Himanshu K.,Prots Iryna,Havlicek Steven,Kohl Zacharias,Saul Domenica,Rummel Christine,Dorca-Arevalo Jonatan,Regensburger Martin,Graef Daniela,Sock Elisabeth,Blasi Juan,Groemer Teja W.,Schlötzer-Schrehardt Ursula,Winkler Jürgen,Winner Beate

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference36 articles.

1. Classification of the hereditary ataxias and paraplegias;Lancet,1983

2. Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia;Clin. Genet,2013

3. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum;Nat. Genet.,2007

4. Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia;Ann. Neurol.,2007

5. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11);Arch. Neurol.,2004

Cited by 89 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. AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegia;Neurobiology of Disease;2024-08

2. Identification and analyses of exonic and copy number variants in spastic paraplegia;Scientific Reports;2024-06-21

3. Late‐onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/D;Annals of Clinical and Translational Neurology;2024-06-04

4. Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN;Molecular Genetics and Genomics;2024-05-21

5. Activation and Purification of ß‐Glucocerebrosidase by Exploiting its Transporter LIMP‐2 – Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease;Advanced Science;2024-04-26