Literature DB >> 5910898

Familial limb-girdle myasthenia.

M P McQuillen.   

Abstract

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Year:  1966        PMID： 5910898     DOI： 10.1093/brain/89.1.121

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


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  6 in total

1.  Evaluation of the jitter phenomenon in myasthenic patients and their relatives.

Authors:  E Hokkanen; B Emeryk-Szajewska; K Rowińska-Marcińska
Journal:  J Neurol       Date:  1978-09-12       Impact factor: 4.849

2.  Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

Authors:  Jan Senderek; Juliane S Müller; Marina Dusl; Tim M Strom; Velina Guergueltcheva; Irmgard Diepolder; Steven H Laval; Susan Maxwell; Judy Cossins; Sabine Krause; Nuria Muelas; Juan J Vilchez; Jaume Colomer; Cecilia Jimenez Mallebrera; Andres Nascimento; Shahriar Nafissi; Ariana Kariminejad; Yalda Nilipour; Bita Bozorgmehr; Hossein Najmabadi; Carmelo Rodolico; Jörn P Sieb; Ortrud K Steinlein; Beate Schlotter; Benedikt Schoser; Janbernd Kirschner; Ralf Herrmann; Thomas Voit; Anders Oldfors; Christopher Lindbergh; Andoni Urtizberea; Maja von der Hagen; Angela Hübner; Jacqueline Palace; Kate Bushby; Volker Straub; David Beeson; Angela Abicht; Hanns Lochmüller
Journal:  Am J Hum Genet       Date:  2011-02-11       Impact factor: 11.025

3.  GFPT1-myasthenia: clinical, structural, and electrophysiologic heterogeneity.

Authors:  Duygu Selcen; Xin-Ming Shen; Margherita Milone; Joan Brengman; Kinji Ohno; Feza Deymeer; Richard Finkel; Julie Rowin; Andrew G Engel
Journal:  Neurology       Date:  2013-06-21       Impact factor: 9.910

Review 4.  Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.

Authors:  Kinji Ohno; Andrew G Engel
Journal:  Curr Neurol Neurosci Rep       Date:  2002-01       Impact factor: 5.081

5.  Congenital myopathy with myasthenic features and congenital cataract in two siblings.

Authors:  Y Nishida; T Kobayashi; M Machi; T Yamada; T Kitaguchi; K Oda; I Goto
Journal:  J Neurol       Date:  1989-03       Impact factor: 4.849

6.  Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.

Authors:  Velina Guergueltcheva; Juliane S Müller; Marina Dusl; Jan Senderek; Anders Oldfors; Christopher Lindbergh; Susan Maxwell; Jaume Colomer; Cecilia Jimenez Mallebrera; Andres Nascimento; Juan J Vilchez; Nuria Muelas; Janbernd Kirschner; Shahriar Nafissi; Ariana Kariminejad; Yalda Nilipour; Bita Bozorgmehr; Hossein Najmabadi; Carmelo Rodolico; Jörn P Sieb; Beate Schlotter; Benedikt Schoser; Ralf Herrmann; Thomas Voit; Ortrud K Steinlein; Abdolhamid Najafi; Andoni Urtizberea; Doriette M Soler; Francesco Muntoni; Michael G Hanna; Amina Chaouch; Volker Straub; Kate Bushby; Jacqueline Palace; David Beeson; Angela Abicht; Hanns Lochmüller
Journal:  J Neurol       Date:  2011-10-06       Impact factor: 4.849
  6 in total

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