Literature DB >> 27553021

SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China.

Yi-Jing Yang1, Zhi-Fan Zhou1, Xin-Xin Liao1, Ying-Ying Luo1, Zi-Xiong Zhan1, Mu-Fang Huang1, Lu Zhou1, Bei-Sha Tang1,2,3, Lu Shen1,2,3, Juan Du4.   

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Year:  2016        PMID： 27553021     DOI： 10.1007/s00415-016-8256-3

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  9 in total

1.  A novel GBA2 gene missense mutation in spastic ataxia.

Authors:  Christina Votsi; Eleni Zamba-Papanicolaou; Lefkos T Middleton; Marios Pantzaris; Kyproula Christodoulou
Journal:  Ann Hum Genet       Date:  2013-11-20       Impact factor: 1.670

Review 2.  Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.

Authors:  S Klebe; G Stevanin; C Depienne
Journal:  Rev Neurol (Paris)       Date:  2015-05-23       Impact factor: 2.607

3.  Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

Authors:  Elodie Martin; Rebecca Schüle; Katrien Smets; Agnès Rastetter; Amir Boukhris; José L Loureiro; Michael A Gonzalez; Emeline Mundwiller; Tine Deconinck; Marc Wessner; Ludmila Jornea; Andrés Caballero Oteyza; Alexandra Durr; Jean-Jacques Martin; Ludger Schöls; Chokri Mhiri; Foudil Lamari; Stephan Züchner; Peter De Jonghe; Edor Kabashi; Alexis Brice; Giovanni Stevanin
Journal:  Am J Hum Genet       Date:  2013-01-17       Impact factor: 11.025

4.  A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.

Authors:  Amir Boukhris; Imed Feki; Nizar Elleuch; Mohamed Imed Miladi; Anne Boland-Augé; Jérémy Truchetto; Emeline Mundwiller; Nadia Jezequel; Diana Zelenika; Chokri Mhiri; Alexis Brice; Giovanni Stevanin
Journal:  Neurogenetics       Date:  2010-07-01       Impact factor: 2.660

5.  SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations.

Authors:  X Liao; Y Luo; Z Zhan; J Du; Z Hu; J Wang; J Guo; Z Hu; X Yan; Q Pan; K Xia; B Tang; L Shen
Journal:  Clin Genet       Date:  2014-01-26       Impact factor: 4.438

6.  Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.

Authors:  Andrea Citterio; Alessia Arnoldi; Elena Panzeri; Maria Grazia D'Angelo; Massimiliano Filosto; Robertino Dilena; Filippo Arrigoni; Marianna Castelli; Cristina Maghini; Chiara Germiniasi; Francesca Menni; Andrea Martinuzzi; Nereo Bresolin; Maria Teresa Bassi
Journal:  J Neurol       Date:  2013-12-13       Impact factor: 4.849

Review 7.  Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Authors:  John K Fink
Journal:  Acta Neuropathol       Date:  2013-07-30       Impact factor: 17.088

8.  Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.

Authors:  Shu-sheng Liao; Lu Shen; Juan Du; Guo-huan Zhao; Xiao-yi Wang; Yi Yang; Zi-quan Xiao; Yi Yuan; Hong Jiang; Nan Li; He-dong Sun; Jun-ling Wang; Chun-yu Wang; Ya-fang Zhou; Xiao-yun Mo; Kun Xia; Bei-sha Tang
Journal:  J Neurol Sci       Date:  2008-10-02       Impact factor: 3.181

9.  Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.

Authors:  Monia B Hammer; Ghada Eleuch-Fayache; Lucia V Schottlaender; Houda Nehdi; J Raphael Gibbs; Sampath K Arepalli; Sean B Chong; Dena G Hernandez; Anna Sailer; Guoxiang Liu; Pramod K Mistry; Huaibin Cai; Ginamarie Shrader; Celeste Sassi; Yosr Bouhlal; Henry Houlden; Fayçal Hentati; Rim Amouri; Andrew B Singleton
Journal:  Am J Hum Genet       Date:  2013-01-17       Impact factor: 11.025
  9 in total
  5 in total

1.  Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability?

Authors:  Alessandro Iodice; Celeste Panteghini; Carlotta Spagnoli; Grazia Gabriella Salerno; Daniele Frattini; Carmela Russo; Barbara Garavaglia; Carlo Fusco
Journal:  J Neurol       Date:  2017-01-24       Impact factor: 4.849

2.  Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.

Authors:  Marta Gatti; Stefania Magri; Daniela Di Bella; Elisa Sarto; Franco Taroni; Caterina Mariotti; Lorenzo Nanetti
Journal:  Neurol Sci       Date:  2021-07-12       Impact factor: 3.307

Review 3.  Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.

Authors:  James C Dodge
Journal:  Front Mol Neurosci       Date:  2017-11-03       Impact factor: 5.639

4.  Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.

Authors:  Qiao Wei; Hai-Lin Dong; Li-Ying Pan; Cong-Xin Chen; Yang-Tian Yan; Rou-Min Wang; Hong-Fu Li; Zhi-Jun Liu; Qing-Qing Tao; Zhi-Ying Wu
Journal:  Transl Neurodegener       Date:  2019-06-26       Impact factor: 8.014

5.  Truncated mutants of beta-glucosidase 2 (GBA2) are localized in the mitochondrial matrix and cause mitochondrial fragmentation.

Authors:  Saki Sultana; Jacklyn Stewart; Aarnoud C van der Spoel
Journal:  PLoS One       Date:  2020-06-03       Impact factor: 3.240
  5 in total

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