Literature DB >> 27544502

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

Giorgio Tasca1, Fabiana Fattori2, Mauro Monforte3, Carola Hedberg-Oldfors4, Mario Sabatelli3, Bjarne Udd5,6,7, Renata Boldrini8, Enrico Bertini2, Enzo Ricci3, Anders Oldfors4.   

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Year:  2016        PMID： 27544502     DOI： 10.1007/s00415-016-8268-z

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  9 in total

Review 1.  Polyglucosan storage myopathies.

Authors:  Carola Hedberg-Oldfors; Anders Oldfors
Journal:  Mol Aspects Med       Date:  2015-08-13

2.  Sporadic late onset nemaline myopathy.

Authors:  Nizar Chahin; Duygu Selcen; Andrew G Engel
Journal:  Neurology       Date:  2005-09-07       Impact factor: 9.910

3.  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

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

Authors:  Irene Colombo; Serena Pagliarani; Silvia Testolin; Claudia Maria Cinnante; Gigliola Fagiolari; Patrizia Ciscato; Andreina Bordoni; Francesco Fortunato; Francesca Magri; Stefano Carlo Previtali; Daniele Velardo; Monica Sciacco; Giacomo Pietro Comi; Maurizio Moggio
Journal:  J Neurol Neurosurg Psychiatry       Date:  2015-07-22       Impact factor: 10.154

5.  Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.

Authors:  Ali-Reza Moslemi; Christopher Lindberg; Johanna Nilsson; Homa Tajsharghi; Bert Andersson; Anders Oldfors
Journal:  N Engl J Med       Date:  2010-04-01       Impact factor: 91.245

6.  A new muscle glycogen storage disease associated with glycogenin-1 deficiency.

Authors:  Edoardo Malfatti; Johanna Nilsson; Carola Hedberg-Oldfors; Aurelio Hernandez-Lain; Fabrice Michel; Cristina Dominguez-Gonzalez; Gabriel Viennet; H Orhan Akman; Cornelia Kornblum; Peter Van den Bergh; Norma B Romero; Andrew G Engel; Salvatore DiMauro; Anders Oldfors
Journal:  Ann Neurol       Date:  2014-10-31       Impact factor: 10.422

7.  Targeted next-generation sequencing assay for detection of mutations in primary myopathies.

Authors:  Anni Evilä; Meharji Arumilli; Bjarne Udd; Peter Hackman
Journal:  Neuromuscul Disord       Date:  2015-11-25       Impact factor: 4.296

8.  Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation.

Authors:  Sushan Luo; Wenhua Zhu; Dongyue Yue; Jie Lin; Yin Wang; Zhen Zhu; Wenjuan Qiu; Jiahong Lu; Carola Hedberg-Oldfors; Anders Oldfors; Chongbo Zhao
Journal:  Neuromuscul Disord       Date:  2015-07-15       Impact factor: 4.296

9.  GYG1 gene mutations in a family with polyglucosan body myopathy.

Authors:  Marina Fanin; Annalaura Torella; Marco Savarese; Vincenzo Nigro; Corrado Angelini
Journal:  Neurol Genet       Date:  2015-09-24
  9 in total
  7 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.  251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.

Authors:  Pascal Laforêt; Anders Oldfors; Edoardo Malfatti; John Vissing
Journal:  Neuromuscul Disord       Date:  2021-01-23       Impact factor: 4.296

3.  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

4.  Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.

Authors:  Claire Lefeuvre; Stéphane Schaeffer; Robert-Yves Carlier; Maxime Fournier; Françoise Chapon; Valérie Biancalana; Guillaume Nicolas; Edoardo Malfatti; Pascal Laforêt
Journal:  Mol Genet Metab Rep       Date:  2020-05-24

Review 5.  Update Review about Metabolic Myopathies.

Authors:  Josef Finsterer
Journal:  Life (Basel)       Date:  2020-04-17

6.  Late-Onset Pompe Disease with Nemaline Bodies.

Authors:  E Frezza; C Terracciano; M Giacanelli; E Rastelli; G Greco; R Massa
Journal:  Case Rep Neurol Med       Date:  2018-09-27

7.  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
  7 in total

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