Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes-Reference-Cited by-同舟云学术

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Exome sequencing reveals novel SPG11 mutation in hereditary spastic paraplegia with complicated phenotypes

Published:2015-07 Issue:7 Volume:22 Page:1150-1154
ISSN:0967-5868
Container-title:Journal of Clinical Neuroscience
language:en
Short-container-title:Journal of Clinical Neuroscience

Author:

Li Yu-sheng,Mao Cheng-yuan,Shi Chang-he,Song Bo,Wu Jun,Qin Jie,Ji Yan,Niu Hui-xia,Luo Hai-yang,Shang Dan-dan,Sun Shi-lei,Xu Yu-ming

Funder

Significant New Drugs Development

National Natural Science Foundation of China

Innovation Team Fund of the First Affiliated Hospital of Zhengzhou University

Publisher

Elsevier BV

Subject

Physiology (medical),Neurology (clinical),Neurology,General Medicine,Surgery

Reference27 articles.

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

2. Mutations of the SPG11 gene in patients with autosomal recessive spastic paraparesis and thin corpus callosum;Lee;J Neurol Neurosurg Psychiatry,2008

3. Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum;Cao;Parkinsonism Relat Disord,2013

4. Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration;Stevanin;Brain,2008

5. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy;Al-Yahyaee;Neurology,2006

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1. A novelRAB39Bgene mutation in X-linked juvenile parkinsonism with basal ganglia calcification;Movement Disorders;2016-12

2. High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles;Human Mutation;2016-04-28

3. CHCHD2 gene mutations in familial and sporadic Parkinson's disease;Neurobiology of Aging;2016-02

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