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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

Review 2. The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic.

Authors: Matthew S Gentry; Zaid Afawi; Dustin D Armstrong; Antonio Delgado-Escueta; Y Paul Goldberg; Tamar R Grossman; Joan J Guinovart; Frank Harris; Thomas D Hurley; Roberto Michelucci; Berge A Minassian; Pascual Sanz; Carolyn A Worby; Jose M Serratosa
Journal: Epilepsy Behav Date: 2020-01-10 Impact factor: 2.937

3. 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

Review 4. Non-lysine ubiquitylation: Doing things differently.

Authors: Ian R Kelsall
Journal: Front Mol Biosci Date: 2022-09-19

5. 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

6. HOIL-1 ubiquitin ligase activity targets unbranched glucosaccharides and is required to prevent polyglucosan accumulation.

Authors: Ian R Kelsall; Elisha H McCrory; Yingqi Xu; Cheryl L Scudamore; Sambit K Nanda; Paula Mancebo-Gamella; Nicola T Wood; Axel Knebel; Stephen J Matthews; Philip Cohen
Journal: EMBO J Date: 2022-03-11 Impact factor: 14.012

6 in total