Literature DB >> 4743931

Central core disease or not? Observations on a family with a non-progressive myopathy.

J A Morgan-Hughes, E M Brett, B D Lake, F M Tomé.   

Abstract

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Year:  1973        PMID： 4743931     DOI： 10.1093/brain/96.3.527

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  6 in total

1.  Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor.

Authors:  G Avila; J J O'Brien; R T Dirksen
Journal:  Proc Natl Acad Sci U S A       Date:  2001-03-27       Impact factor: 11.205

Review 2.  [Central core myopathy: a juvenile and adult disease].

Authors:  H J Gdynia; A-D Sperfeld; C O Hanemann
Journal:  Nervenarzt       Date:  2007-04       Impact factor: 1.214

3.  Is central core disease with structural core a fetal defect?

Authors:  A Fidziańska; I Niebrój-Dobosz; B Badurska; B Ryniewicz
Journal:  J Neurol       Date:  1984       Impact factor: 4.849

4.  Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.

Authors:  Elena Zvaritch; Natasha Kraeva; Eric Bombardier; Robert A McCloy; Frederic Depreux; Douglas Holmyard; Alexander Kraev; Christine E Seidman; J G Seidman; A Russell Tupling; David H MacLennan
Journal:  Proc Natl Acad Sci U S A       Date:  2009-12-03       Impact factor: 11.205

5.  Minicore myopathy.

Authors:  F Gullotta; L Pavone; M La Rosa; A Grasso
Journal:  Klin Wochenschr       Date:  1982-11-02

Review 6.  Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.

Authors:  Tokunbor A Lawal; Joshua J Todd; Jessica W Witherspoon; Carsten G Bönnemann; James J Dowling; Susan L Hamilton; Katherine G Meilleur; Robert T Dirksen
Journal:  Skelet Muscle       Date:  2020-11-16       Impact factor: 4.912
  6 in total

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