Literature DB >> 10399877

Phenotypic variability in two brothers with sarcotubular myopathy.

W Müller-Felber, B Schlotter, M Töpfer, U P Ketelsen, J Müller-Höcker, D Pongratz.   

Abstract

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Year:  1999        PMID： 10399877     DOI： 10.1007/s004150050374

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  6 in total

1.  Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H.

Authors:  Elena Kudryashova; Irina Kramerova; Melissa J Spencer
Journal:  J Clin Invest       Date:  2012-04-16       Impact factor: 14.808

2.  Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.

Authors:  Elena Kudryashova; Jun Wu; Leif A Havton; Melissa J Spencer
Journal:  Hum Mol Genet       Date:  2009-01-19       Impact factor: 6.150

3.  Novel TRIM32 mutation in sarcotubular myopathy.

Authors:  Chiara Panicucci; Monica Traverso; Serena Baratto; Chiara Romeo; Michele Iacomino; Chiara Gemelli; Alberto Tagliafico; Paolo Broda; Federico Zara; Claudio Bruno; Carlo Minetti; Chiara Fiorillo
Journal:  Acta Myol       Date:  2019-03-01

4.  Analysis of the Zn-Binding Domains of TRIM32, the E3 Ubiquitin Ligase Mutated in Limb Girdle Muscular Dystrophy 2H.

Authors:  Elisa Lazzari; Medhat S El-Halawany; Matteo De March; Floriana Valentino; Francesco Cantatore; Chiara Migliore; Silvia Onesti; Germana Meroni
Journal:  Cells       Date:  2019-03-16       Impact factor: 6.600

Review 5.  A novel homozygous exon2 deletion of TRIM32 gene in a Chinese patient with sarcotubular myopathy: A case report and literature review.

Authors:  Xiao-Jing Wei; Jing Miao; Zhi-Xia Kang; Yan-Lu Gao; Zi-Yi Wang; Xue-Fan Yu
Journal:  Bosn J Basic Med Sci       Date:  2021-08-01       Impact factor: 3.363

6.  TRIM32 is an E3 ubiquitin ligase for dysbindin.

Authors:  Matthew Locke; Caroline L Tinsley; Matthew A Benson; Derek J Blake
Journal:  Hum Mol Genet       Date:  2009-04-06       Impact factor: 6.150
  6 in total

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