Literature DB >> 30980493

A new case of infantile-onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family.

A L Chukhrova1, I A Akimova1, O A Shchagina1, V A Kadnikova1, O P Ryzhkova1, A V Polyakov1.   

Abstract

Entities:  

Keywords:  zzm321990ARL6IP1zzm321990; SPG61; consanguineous; hereditary spastic paraplegia; homozygosity; whole-exome sequencing

Year:  2019        PMID： 30980493     DOI： 10.1111/ene.13880

Source DB:  PubMed          Journal:  Eur J Neurol        ISSN： 1351-5101            Impact factor:   6.089


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  2 in total

Review 1.  Genetic pain loss disorders.

Authors:  Annette Lischka; Petra Lassuthova; Arman Çakar; Christopher J Record; Jonas Van Lent; Jonathan Baets; Maike F Dohrn; Jan Senderek; Angelika Lampert; David L Bennett; John N Wood; Vincent Timmerman; Thorsten Hornemann; Michaela Auer-Grumbach; Yesim Parman; Christian A Hübner; Miriam Elbracht; Katja Eggermann; C Geoffrey Woods; James J Cox; Mary M Reilly; Ingo Kurth
Journal:  Nat Rev Dis Primers       Date:  2022-06-16       Impact factor: 65.038

2.  Liver X receptor-agonist treatment rescues degeneration in a Drosophila model of hereditary spastic paraplegia.

Authors:  Dwayne J Byrne; M Elena Garcia-Pardo; Nelson B Cole; Belguun Batnasan; Sophia Heneghan; Anood Sohail; Craig Blackstone; Niamh C O'Sullivan
Journal:  Acta Neuropathol Commun       Date:  2022-03-28       Impact factor: 7.801
  2 in total

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