Literature DB >> 9052818

The rigid spine syndrome due to acid maltase deficiency.

R Fadic1, A J Waclawik, B R Brooks, B P Lotz.   

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Year:  1997        PMID： 9052818     DOI： 10.1002/(SICI)1097-4598(199703)20:3<364::AID-MUS16>3.0.CO;2-0

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  4 in total

Review 1.  The natural course of non-classic Pompe's disease; a review of 225 published cases.

Authors:  Léon P F Winkel; Marloes L C Hagemans; Pieter A van Doorn; M Christa B Loonen; Wim J C Hop; Arnold J J Reuser; Ans T van der Ploeg
Journal:  J Neurol       Date:  2005-08       Impact factor: 4.849

2.  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

3.  The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case series.

Authors:  Rocio N Villar-Quiles; Maja von der Hagen; Corinne Métay; Victoria Gonzalez; Sandra Donkervoort; Enrico Bertini; Claudia Castiglioni; Denys Chaigne; Jaume Colomer; Maria Luz Cuadrado; Marianne de Visser; Isabelle Desguerre; Bruno Eymard; Nathalie Goemans; Angela Kaindl; Emmanuelle Lagrue; Jürg Lütschg; Edoardo Malfatti; Michèle Mayer; Luciano Merlini; David Orlikowski; Ulrike Reuner; Mustafa A Salih; Beate Schlotter-Weigel; Mechthild Stoetter; Volker Straub; Haluk Topaloglu; J Andoni Urtizberea; Anneke van der Kooi; Ekkehard Wilichowski; Norma B Romero; Michel Fardeau; Carsten G Bönnemann; Brigitte Estournet; Pascale Richard; Susana Quijano-Roy; Ulrike Schara; Ana Ferreiro
Journal:  Neurology       Date:  2020-08-13       Impact factor: 9.910

4.  Orthopedic management of patients with Pompe disease: a retrospective case series of 8 patients.

Authors:  Gerrit Haaker; Jürgen Forst; Raimund Forst; Albert Fujak
Journal:  ScientificWorldJournal       Date:  2014-01-02
  4 in total

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