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List of works by Berge A Minassian

Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease.

scientific article

Exploiting the diphtheria toxin internalization receptor enhances delivery of proteins to lysosomes for enzyme replacement therapy

scientific article published on 11 December 2020

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

scientific article published on 09 October 2020

Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease

scientific article published on 25 May 2020

Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease

scientific article published on 06 September 2020

SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder - deafness syndrome

scientific article published on 24 November 2020

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