Revision history of "Alpha-distroglycanopathies: pathophysiology, genetics and studies in animal models." (Q3202992)

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8 October 2024

  • curprev 11:1411:14, 8 October 2024DG Regio talk contribs 78,068 bytes +5 Set a claim value: summary (P836): As distroglicanopatias (DGPs) são um grupo heterogéneo de distrofias neuromusculares recessivas que afetam o músculo, o cérebro e a retina, e originam-se de uma O-glicosilação alfa-distroglicano anormal (alfa-DG). Esta modificação pós-traducional é essencial para ancorar as células musculares e nervosas à matriz extracelular, e 18 genes associados têm sido descritos como responsáveis. Uma vez que o gene mutado em 60 % dos doentes com PDD ainda é des...

12 March 2024

20 December 2023

12 June 2023

10 June 2023

18 August 2022

  • curprev 10:2510:25, 18 August 2022DG Regio talk contribs 76,790 bytes +52,886 Changed label, description and/or aliases in el, da, fi, mt, lv, sk, ga, cs, pt, et, hu, bg, lt, hr, sv, ro, sl, pl, nl, fr, de, it, es, and other parts: Adding translations: el, da, fi, mt, lv, sk, ga, cs, pt, et, hu, bg, lt, hr, sv, ro, sl, pl,

16 January 2022

17 December 2021

9 December 2021

4 December 2021

13 October 2021

  • curprev 00:5400:54, 13 October 2021DG Regio talk contribs 12,838 bytes +142 Changed label, description and/or aliases in en: translated_label
  • curprev 00:5400:54, 13 October 2021DG Regio talk contribs 12,696 bytes +2,502 Created claim: summary (P836): Dystroglycanopathies (DGPs) are a heterogeneous group of recessive neuromuscular dystrophys that affect the muscle, brain and retina, and originate from an abnormal alpha-distroglycan O-glycosylation (alpha-DG). This post-translational modification is essential for anchoring muscle and nerve cells to the extracellular matrix, and 18 associated genes have been described as responsible. Since the gene mutated in 60 % of patients with PDD is still...

11 October 2021

10 October 2021

8 October 2021