Literature DB >> 15668457

Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale.

S L Venance1, W J Koopman, B A Miskie, R A Hegele, A F Hahn.   

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Year:  2005        PMID： 15668457     DOI： 10.1212/01.WNL.0000149755.85666.DB

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  4 in total

Review 1.  The congenital muscular dystrophies: recent advances and molecular insights.

Authors:  Jerry R Mendell; Daniel R Boué; Paul T Martin
Journal:  Pediatr Dev Pathol       Date:  2006 Nov-Dec

Review 2.  Understanding the importance of selenium and selenoproteins in muscle function.

Authors:  M Rederstorff; A Krol; A Lescure
Journal:  Cell Mol Life Sci       Date:  2006-01       Impact factor: 9.261

3.  Targeted next generation sequencing identifies two novel mutations in SEPN1 in rigid spine muscular dystrophy 1.

Authors:  Yi Dai; Shengran Liang; Yan Huang; Lin Chen; Santasree Banerjee
Journal:  Oncotarget       Date:  2016-12-20

4.  A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report.

Authors:  Fateme Ziyaee; Eslam Shorafa; Hassan Dastsooz; Parham Habibzadeh; Hamid Nemati; Amir Saeed; Mohammad Silawi; Mohammad Ali Farazi Fard; Mohammad Ali Faghihi; Seyed Alireza Dastgheib
Journal:  BMC Med Genet       Date:  2019-01-14       Impact factor: 2.103
  4 in total

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