Literature DB >> 26768280

A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.

Marina Scarlato1, Fiammetta Viganò2, Paola Carrera3, Stefano Carlo Previtali1, Alessandra Bolino2.   

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Year:  2015        PMID： 26768280     DOI： 10.1111/jns.12139

Source DB:  PubMed          Journal:  J Peripher Nerv Syst        ISSN： 1085-9489            Impact factor:   3.494


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  6 in total

Review 1.  Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Authors:  Jaakko Sarparanta; Per Harald Jonson; Sabita Kawan; Bjarne Udd
Journal:  Int J Mol Sci       Date:  2020-02-19       Impact factor: 5.923

Review 2.  Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.

Authors:  Vincenzo Lupo; Carmen Aguado; Erwin Knecht; Carmen Espinós
Journal:  Front Mol Biosci       Date:  2016-12-14

3.  A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.

Authors:  Delphine Bouhy; Manisha Juneja; Istvan Katona; Anne Holmgren; Bob Asselbergh; Vicky De Winter; Tino Hochepied; Steven Goossens; Jody J Haigh; Claude Libert; Chantal Ceuterick-de Groote; Joy Irobi; Joachim Weis; Vincent Timmerman
Journal:  Acta Neuropathol       Date:  2017-08-05       Impact factor: 17.088

4.  Characterization of Hspb8 in Zebrafish.

Authors:  Magda Dubińska-Magiera; Joanna Niedbalska-Tarnowska; Marta Migocka-Patrzałek; Ewelina Posyniak; Małgorzata Daczewska
Journal:  Cells       Date:  2020-06-26       Impact factor: 6.600

5.  Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy.

Authors:  Daojun Hong; Pu Fang; Sheng Yao; Juanjuan Chen; Xiaolei Zhang; Shuyun Chen; Jingfen Zhang; Dandan Tan; Li Wang; Xinsheng Han; Ling Xin; Yan Wang; Meige Liu; Lu Cong; Shanshan Zhong; Hui Ouyang; Xuguang Gao; Jun Zhang
Journal:  Ann Clin Transl Neurol       Date:  2019-08-20       Impact factor: 4.511

6.  Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.

Authors:  Elena Abati; Stefania Magri; Megi Meneri; Giulia Manenti; Daniele Velardo; Francesca Balistreri; Chiara Pisciotta; Paola Saveri; Nereo Bresolin; Giacomo Pietro Comi; Dario Ronchi; Davide Pareyson; Franco Taroni; Stefania Corti
Journal:  Ann Clin Transl Neurol       Date:  2021-05-04       Impact factor: 4.511
  6 in total

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