Literature DB >> 35359550

SEPN1-Related Myopathy: The Importance of Diagnosis and Challenges to Management of CMD in Resource Poor Settings.

Siddhartha Gajam1, Madhuri Maganthi1, Ann Agnes Mathew1, Suman Rath1.   

Abstract

Entities:  

Year:  2021        PMID： 35359550      PMCID： PMC8965955          DOI： 10.4103/aian.AIAN_655_20

Source DB:  PubMed          Journal:  Ann Indian Acad Neurol        ISSN： 0972-2327            Impact factor:   1.383


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  5 in total

1.  Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1-Related Myopathies.

Authors:  Mathilde Viprey; Ha Trang; Michaël Pomedio; Katia Bessaci-Kabouya; Pascal Sabouraud; Fawzia Cheliout-Heraut; Pierre Mauran
Journal:  J Clin Sleep Med       Date:  2017-09-15       Impact factor: 4.062

Review 2.  Congenital muscular dystrophies: new aspects of an expanding group of disorders.

Authors:  Matthew T Lisi; Ronald D Cohn
Journal:  Biochim Biophys Acta       Date:  2006-09-20

3.  Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

Authors:  Ana Ferreiro; Susana Quijano-Roy; Claire Pichereau; Behzad Moghadaszadeh; Nathalie Goemans; Carsten Bönnemann; Heinz Jungbluth; Volker Straub; Marcello Villanova; Jean-Paul Leroy; Norma B Romero; Jean-Jacques Martin; Francesco Muntoni; Thomas Voit; Brigitte Estournet; Pascale Richard; Michel Fardeau; Pascale Guicheney
Journal:  Am J Hum Genet       Date:  2002-08-21       Impact factor: 11.025

4.  SEPN1-related myopathies: clinical course in a large cohort of patients.

Authors:  M Scoto; S Cirak; R Mein; L Feng; A Y Manzur; S Robb; A-M Childs; R M Quinlivan; H Roper; D H Jones; C Longman; G Chow; M Pane; M Main; M G Hanna; K Bushby; C Sewry; S Abbs; E Mercuri; F Muntoni
Journal:  Neurology       Date:  2011-06-14       Impact factor: 9.910

5.  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
  5 in total

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