Literature DB >> 26203156

Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation.

Irene Colombo1, Serena Pagliarani2, Silvia Testolin1, Claudia Maria Cinnante3, Gigliola Fagiolari1, Patrizia Ciscato1, Andreina Bordoni2, Francesco Fortunato2, Francesca Magri2, Stefano Carlo Previtali4, Daniele Velardo4, Monica Sciacco1, Giacomo Pietro Comi2, Maurizio Moggio1.   

Abstract

Entities:  

Keywords:  MYOPATHY; NEUROMUSCULAR

Mesh：

Substances：

Year:  2015        PMID： 26203156     DOI： 10.1136/jnnp-2015-310553

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  6 in total

Review 1.  Update on polyglucosan storage diseases.

Authors:  Giovanna Cenacchi; V Papa; R Costa; V Pegoraro; R Marozzo; M Fanin; C Angelini
Journal:  Virchows Arch       Date:  2019-07-30       Impact factor: 4.064

2.  Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.

Authors:  H Orhan Akman; Yavuz Aykit; Ozge Ceren Amuk; Edoardo Malfatti; Norma B Romero; Maria Antonietta Maioli; Rachele Piras; Salvatore DiMauro; Gianni Marrosu
Journal:  Neuromuscul Disord       Date:  2015-11-10       Impact factor: 4.296

3.  Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.

Authors:  Giorgio Tasca; Fabiana Fattori; Mauro Monforte; Carola Hedberg-Oldfors; Mario Sabatelli; Bjarne Udd; Renata Boldrini; Enrico Bertini; Enzo Ricci; Anders Oldfors
Journal:  J Neurol       Date:  2016-08-20       Impact factor: 4.849

4.  Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

Authors:  Carola Hedberg-Oldfors; Emma Glamuzina; Peter Ruygrok; Lisa J Anderson; Perry Elliott; Oliver Watkinson; Chris Occleshaw; Malcolm Abernathy; Clinton Turner; Nicola Kingston; Elaine Murphy; Anders Oldfors
Journal:  J Inherit Metab Dis       Date:  2016-10-07       Impact factor: 4.982

5.  Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

Authors:  Rabah Ben Yaou; Aurélie Hubert; Isabelle Nelson; Julia R Dahlqvist; David Gaist; Nathalie Streichenberger; Maud Beuvin; Martin Krahn; Philippe Petiot; Frédéric Parisot; Fabrice Michel; Edoardo Malfatti; Norma Romero; Robert Yves Carlier; Bruno Eymard; Philippe Labrune; Morten Duno; Thomas Krag; Mathieu Cerino; Marc Bartoli; Gisèle Bonne; John Vissing; Pascal Laforet; François M Petit
Journal:  Neurol Genet       Date:  2017-12-18

6.  Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage.

Authors:  Kittichate Visuttijai; Carola Hedberg-Oldfors; Christer Thomsen; Emma Glamuzina; Cornelia Kornblum; Giorgio Tasca; Aurelio Hernandez-Lain; Joakim Sandstedt; Göran Dellgren; Peter Roach; Anders Oldfors
Journal:  J Clin Endocrinol Metab       Date:  2020-02-01       Impact factor: 5.958
  6 in total

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