Literature DB >> 18361476

Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.

Shu-Shan Zhang, Qin Chen, Xue-Ping Chen, Jian-Gang Wang, Jean-Marc Burgunder, Hui-Fang Shang, Jean-Marc Burgunder, Yuan Yang.   

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Year:  2008        PMID： 18361476     DOI： 10.1002/mds.21942

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  5 in total

1.  Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.

Authors:  Sung-Min Kim; Jeong-Seon Lee; Suhyun Kim; Hyun-Jung Kim; Man-Ho Kim; Kyoung-Min Lee; Yoon-Ho Hong; Kyung Seok Park; Jung-Joon Sung; Kwang-Woo Lee
Journal:  J Neurol       Date:  2009-06-10       Impact factor: 4.849

2.  Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.

Authors:  Peter Bauer; Beate Winner; Rebecca Schüle; Claudia Bauer; Veronika Häfele; Ute Hehr; Michael Bonin; Michael Walter; Kathrin Karle; Thomas M Ringer; Olaf Riess; Jürgen Winkler; Ludger Schöls
Journal:  Neurogenetics       Date:  2008-09-12       Impact factor: 2.660

3.  SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

Authors:  Mathieu Anheim; Clotilde Lagier-Tourenne; Giovanni Stevanin; Marie Fleury; Alexandra Durr; Izzie Jacques Namer; Paola Denora; Alexis Brice; Jean-Louis Mandel; Michel Koenig; Christine Tranchant
Journal:  J Neurol       Date:  2009-02-09       Impact factor: 4.849

4.  Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.

Authors:  Marzieh Khani; Hosein Shamshiri; Farzad Fatehi; Mohammad Rohani; Bahram Haghi Ashtiani; Fahimeh Haji Akhoundi; Afagh Alavi; Hamidreza Moazzeni; Hanieh Taheri; Mina Tolou Ghani; Leila Javanparast; Seyyed Saleh Hashemi; Ramona Haji-Seyed-Javadi; Matineh Heidari; Shahriar Nafissi; Elahe Elahi
Journal:  Mol Genet Genomic Med       Date:  2020-05-08       Impact factor: 2.183

5.  Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11.

Authors:  Xueping Chen; Jiao Liu; Qian-Qian Wei; Ru Wei Ou; Bei Cao; Xiaoqin Yuan; Yanbing Hou; Lingyu Zhang; Huifang Shang
Journal:  BMC Neurol       Date:  2020-01-03       Impact factor: 2.474
  5 in total

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