Literature DB >> 36260233

Novel RAB39B mutation (c.309G > A)-related spastic paraparasis: case report.

Hang Liu1, Hongyu Lai1, Lijuan Mo1, Xi Liu2, Lifen Chen3.   

Abstract

Entities:  

Year:  2022        PMID： 36260233     DOI： 10.1007/s13760-022-02114-9

Source DB:  PubMed          Journal:  Acta Neurol Belg        ISSN： 0300-9009            Impact factor:   2.471


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  5 in total

Review 1.  Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.

Authors:  Sara Salinas; Christos Proukakis; Andrew Crosby; Thomas T Warner
Journal:  Lancet Neurol       Date:  2008-12       Impact factor: 44.182

2.  Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant.

Authors:  Max Güldner; Claudia Schulte; Ann-Kathrin Hauser; Thomas Gasser; Kathrin Brockmann
Journal:  Parkinsonism Relat Disord       Date:  2016-07-15       Impact factor: 4.891

3.  Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

Authors:  Gabrielle R Wilson; Joe C H Sim; Catriona McLean; Maila Giannandrea; Charles A Galea; Jessica R Riseley; Sarah E M Stephenson; Elizabeth Fitzpatrick; Stefan A Haas; Kate Pope; Kirk J Hogan; Ronald G Gregg; Catherine J Bromhead; David S Wargowski; Christopher H Lawrence; Paul A James; Andrew Churchyard; Yujing Gao; Dean G Phelan; Greta Gillies; Nicholas Salce; Lynn Stanford; Ashley P L Marsh; Maria L Mignogna; Susan J Hayflick; Richard J Leventer; Martin B Delatycki; George D Mellick; Vera M Kalscheuer; Patrizia D'Adamo; Melanie Bahlo; David J Amor; Paul J Lockhart
Journal:  Am J Hum Genet       Date:  2014-11-26       Impact factor: 11.025

4.  Hereditary and idiopathic spastic paraparesis: preliminary findings of a single center experience.

Authors:  Fang Cui; Liuqing Sun; Jie Qiao; Jianmei Xiong; Yangang Zhao; Jianyong Li; Mao Li; Siyu Chen; Xusheng Huang
Journal:  Neurol Res       Date:  2018-12       Impact factor: 2.448

Review 5.  RAB39B's role in membrane traffic, autophagy, and associated neuropathology.

Authors:  Bor Luen Tang
Journal:  J Cell Physiol       Date:  2020-08-06       Impact factor: 6.384
  5 in total

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