A new muscle glycogen storage disease associated with glycogenin-1 deficiency-Reference-Cited by-同舟云学术

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

Published:2014-10-31 Issue:6 Volume:76 Page:891-898
ISSN:0364-5134
Container-title:Annals of Neurology
language:en
Short-container-title:Ann Neurol.

Author:

Malfatti Edoardo¹²,Nilsson Johanna¹,Hedberg-Oldfors Carola¹,Hernandez-Lain Aurelio³,Michel Fabrice⁴,Dominguez-Gonzalez Cristina³,Viennet Gabriel⁵,Akman H. Orhan⁶,Kornblum Cornelia⁷,Van den Bergh Peter⁸,Romero Norma B.²,Engel Andrew G.⁹,DiMauro Salvatore⁶,Oldfors Anders¹

Affiliation:

1. Department of Pathology; Institute of Biomedicine; University of Gothenburg; Gothenburg Sweden

2. Myology Institute; Neuromuscular Morphology Unit, Pierre and Marie Curie University; Pitié-Salpêtrière University Hospital Group; Sorbonne Universities; Paris France

3. Neuropathology and Neurology Units; Hospital Universitario 12 de Octubre; Madrid Spain

4. Neuromuscular Explorations and Pathologies Unit; University Hospital Center of Besançon; Besançon France

5. Pathological Anatomy and Cytology Unit; University Hospital Center of Besançon; Besançon France

6. Department of Neurology; Columbia University Medical Center; New York NY

7. Department of Neurology; University Hospital of Bonn; Bonn Germany

8. Neuromuscular Reference Center, Department of Neurology; University Hospitals St-Luc; University of Louvain; Brussels Belgium

9. Department of Neurology; Mayo Clinic College of Medicine; Rochester MN

Funder

Swedish Research Council

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Reference15 articles.

1. New insights in the field of muscle glycogenoses;Oldfors;Curr Opin Neurol,2013

2. Glycogen and its metabolism: some new developments and old themes;Roach;Biochem J,2012

3. Progress and problems in muscle glycogenoses;DiMauro;Acta Myol,2011

4. Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency;Malfatti;J Neurol Sci,2012

5. Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1;Nilsson;Ann Neurol,2013

Cited by 72 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. New mutations identified in a case of Glycogenin-1 deficiency;Molecular Genetics and Metabolism Reports;2024-03

2. Glycogen storage diseases;Nature Reviews Disease Primers;2023-09-07

3. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review;International Journal of Molecular Sciences;2023-05-11

4. A survey of the genes encoding trehalose-metabolism enzymes in crustaceans;Journal of Crustacean Biology;2023-04-21

5. Comprehensive Analysis of Molecular Subtypes and Hub Genes of Sepsis by Gene Expression Profiles;Frontiers in Genetics;2022-08-12