Literature DB >> 24659419

Novel splice site mutation of SPG4 in a Chinese family with hereditary spastic paraplegia.

Xiaomin Liu, Jiyou Tang.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2014        PMID: 24659419     DOI: 10.1007/s10072-014-1727-3

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


× No keyword cloud information.
  4 in total

1.  Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

Authors:  J Hazan; N Fonknechten; D Mavel; C Paternotte; D Samson; F Artiguenave; C S Davoine; C Cruaud; A Dürr; P Wincker; P Brottier; L Cattolico; V Barbe; J M Burgunder; J F Prud'homme; A Brice; B Fontaine; B Heilig; J Weissenbach
Journal:  Nat Genet       Date:  1999-11       Impact factor: 38.330

2.  Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Authors:  Gaia Novarino; Ali G Fenstermaker; Maha S Zaki; Matan Hofree; Jennifer L Silhavy; Andrew D Heiberg; Mostafa Abdellateef; Basak Rosti; Eric Scott; Lobna Mansour; Amira Masri; Hulya Kayserili; Jumana Y Al-Aama; Ghada M H Abdel-Salam; Ariana Karminejad; Majdi Kara; Bulent Kara; Bita Bozorgmehri; Tawfeg Ben-Omran; Faezeh Mojahedi; Iman Gamal El Din Mahmoud; Naima Bouslam; Ahmed Bouhouche; Ali Benomar; Sylvain Hanein; Laure Raymond; Sylvie Forlani; Massimo Mascaro; Laila Selim; Nabil Shehata; Nasir Al-Allawi; P S Bindu; Matloob Azam; Murat Gunel; Ahmet Caglayan; Kaya Bilguvar; Aslihan Tolun; Mahmoud Y Issa; Jana Schroth; Emily G Spencer; Rasim O Rosti; Naiara Akizu; Keith K Vaux; Anide Johansen; Alice A Koh; Hisham Megahed; Alexandra Durr; Alexis Brice; Giovanni Stevanin; Stacy B Gabriel; Trey Ideker; Joseph G Gleeson
Journal:  Science       Date:  2014-01-31       Impact factor: 47.728

3.  Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Authors:  N Fonknechten; D Mavel; P Byrne; C S Davoine; C Cruaud; D Bönsch; D Boentsch; D Samson; P Coutinho; M Hutchinson; P McMonagle; J M Burgunder; A Tartaglione; O Heinzlef; I Feki; T Deufel; N Parfrey; A Brice; B Fontaine; J F Prud'homme; J Weissenbach; A Dürr; J Hazan
Journal:  Hum Mol Genet       Date:  2000-03-01       Impact factor: 6.150

4.  Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients.

Authors:  Paul R Kasher; Kurt J De Vos; Stephen B Wharton; Catherine Manser; Ellen J Bennett; Megan Bingley; Jonathan D Wood; Roy Milner; Christopher J McDermott; Christopher C J Miller; Pamela J Shaw; Andrew J Grierson
Journal:  J Neurochem       Date:  2009-04-22       Impact factor: 5.372

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.