Literature DB >> 22991237

Hereditary spastic paraplegia caused by a mutation in the VCP gene.

Susanne T de Bot, Helenius J Schelhaas, Erik-Jan Kamsteeg, Bart P C van de Warrenburg.   

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Year:  2012        PMID： 22991237     DOI： 10.1093/brain/aws201

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  29 in total

1.  A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.

Authors:  Michael A Gonzalez; Shawna M Feely; Fiorella Speziani; Alleene V Strickland; Matt Danzi; Chelsea Bacon; Youjin Lee; Tsui-Fen Chou; Susan H Blanton; Conrad C Weihl; Stephan Zuchner; Michael E Shy
Journal:  Brain       Date:  2014-08-14       Impact factor: 13.501

2.  Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion.

Authors:  Seongju Lee; Hyungsun Park; Peng-Peng Zhu; Soon-Young Jung; Craig Blackstone; Jaerak Chang
Journal:  Sci Signal       Date:  2020-01-07       Impact factor: 8.192

3.  VCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations.

Authors:  Nam Chul Kim; Emilie Tresse; Regina-Maria Kolaitis; Amandine Molliex; Ruth E Thomas; Nael H Alami; Bo Wang; Aashish Joshi; Rebecca B Smith; Gillian P Ritson; Brett J Winborn; Jennifer Moore; Joo-Yong Lee; Tso-Pang Yao; Leo Pallanck; Mondira Kundu; J Paul Taylor
Journal:  Neuron       Date:  2013-03-14       Impact factor: 17.173

4.  Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.

Authors:  Susanne T de Bot; Sascha Vermeer; Wendy Buijsman; Angelien Heister; Marsha Voorendt; Aad Verrips; Hans Scheffer; Hubertus P H Kremer; Bart P C van de Warrenburg; Erik-Jan Kamsteeg
Journal:  J Neurol       Date:  2013-03-02       Impact factor: 4.849

Review 5.  Presymptomatic ALS genetic counseling and testing: Experience and recommendations.

Authors:  Michael Benatar; Christine Stanislaw; Eliana Reyes; Sumaira Hussain; Anne Cooley; Maria Catalina Fernandez; Danielle D Dauphin; Sara-Claude Michon; Peter M Andersen; Joanne Wuu
Journal:  Neurology       Date:  2016-05-18       Impact factor: 9.910

6.  Involvement of peripheral and central nervous systems in a valosin-containing protein mutation.

Authors:  Kurt Segers; Gerald Glibert; Johan Callebaut; Luc Kevers; Ibrahim Alcan; Bernard Dachy
Journal:  J Clin Neurol       Date:  2014-04-23       Impact factor: 3.077

7.  Motor neuron involvement in multisystem proteinopathy: implications for ALS.

Authors:  Michael Benatar; Joanne Wuu; Catalina Fernandez; Conrad C Weihl; Heather Katzen; Julie Steele; Bjorn Oskarsson; J Paul Taylor
Journal:  Neurology       Date:  2013-05-01       Impact factor: 9.910

8.  215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.

Authors:  Teresinha Evangelista; Conrad C Weihl; Virginia Kimonis; Hanns Lochmüller
Journal:  Neuromuscul Disord       Date:  2016-05-30       Impact factor: 4.296

9.  Mitochondrial Respiratory Measurements in Patient-derived Fibroblasts.

Authors:  Prashant Mishra; Ting Zhang; Ming Guo; David Chan
Journal:  Bio Protoc       Date:  2019-12-05

Review 10.  An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models.

Authors:  Kishore R Kumar; Nicholas F Blair; Carolyn M Sue
Journal:  Mov Disord Clin Pract       Date:  2015-06-02
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