Literature DB >> 27083531

Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation.

M Frasquet1, M J Chumillas2, J J Vílchez3, C Márquez-Infante4, F Palau5, J F Vázquez-Costa1, V Lupo6, C Espinós6, T Sevilla3.   

Abstract

Entities:  

Keywords:  ALS; HMSN (CHARCOT-MARIE-TOOTH); PARKINSON'S DISEASE; SPINAL MUSCULAR ATRO

Mesh:

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Year:  2016        PMID: 27083531     DOI: 10.1136/jnnp-2015-312890

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


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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.  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

4.  DNAJB2-related Charcot-Marie-Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening.

Authors:  Paola Saveri; Stefania Magri; Emanuela Maderna; Francesca Balistreri; Raffaella Lombardi; Claudia Ciano; Fabio Moda; Barbara Garavaglia; Chiara Reale; Giuseppe Lauria Pinter; Franco Taroni; Davide Pareyson; Chiara Pisciotta
Journal:  Eur J Neurol       Date:  2022-03-23       Impact factor: 6.288

Review 5.  DNAJ Proteins in neurodegeneration: essential and protective factors.

Authors:  Christina Zarouchlioti; David A Parfitt; Wenwen Li; Lauren M Gittings; Michael E Cheetham
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2018-01-19       Impact factor: 6.237

6.  Reply: The role of DNAJB2 in amyotrophic lateral sclerosis.

Authors:  Han-Jou Chen; Christopher E Shaw
Journal:  Brain       Date:  2016-06-21       Impact factor: 15.255

  6 in total

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