Literature DB >> 3698409

[A case of hypokalemic periodic paralysis with tubular aggregates in type 2A fibers and type 2B fibers].

S Takizawa, T Ishihara, Y Shinohara.   

Abstract

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Year:  1986        PMID: 3698409

Source DB:  PubMed          Journal:  Rinsho Shinkeigaku        ISSN: 0009-918X


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  2 in total

1.  Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Authors:  Stéphanie Bauché; Geoffroy Vellieux; Damien Sternberg; Marie-Joséphine Fontenille; Elodie De Bruyckere; Claire-Sophie Davoine; Guy Brochier; Julien Messéant; Lucie Wolf; Michel Fardeau; Emmanuelle Lacène; Norma Romero; Jeanine Koenig; Emmanuel Fournier; Daniel Hantaï; Nathalie Streichenberger; Veronique Manel; Arnaud Lacour; Aleksandra Nadaj-Pakleza; Sylvie Sukno; Françoise Bouhour; Pascal Laforêt; Bertrand Fontaine; Laure Strochlic; Bruno Eymard; Frédéric Chevessier; Tanya Stojkovic; Sophie Nicole
Journal:  J Neurol       Date:  2017-07-15       Impact factor: 4.849

2.  Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation.

Authors:  William Schubert; Federica Sotgia; Alex W Cohen; Franco Capozza; Gloria Bonuccelli; Claudio Bruno; Carlo Minetti; Eduardo Bonilla; Salvatore Dimauro; Michael P Lisanti
Journal:  Am J Pathol       Date:  2007-01       Impact factor: 4.307

  2 in total

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