High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy. [PDF]
Am J Hum Genet, 2023 Andreoletti G +11 more
europepmc +1 more source
Establishing prevalence in rare neuromuscular diseases: A lesson from congenital myopathies [PDF]
, 2017 Bamaga, Ahmed K., Weihl, Conrad C.
core +2 more sources
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. [PDF]
Acta Neuropathol, 2022 Volpatti JR +25 more
europepmc +1 more source
Antagonistic control of active surface integrins by myotubularin and phosphatidylinositol 3-kinase C2β in a myotubular myopathy model. [PDF]
Proc Natl Acad Sci U S A, 2022 Samsó P +7 more
europepmc +1 more source
Des mutations de la dynamine 2 à l’origine de la forme dominante de la myopathie centronucléaire [PDF]
, 2006 Bitoun, Marc +2 more
core +1 more source
Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study. [PDF]
Neurology, 2021 Reumers SFI +14 more
europepmc +1 more source
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature [PDF]
, 2015 core +1 more source
La souris paraplégique : Un modèle offrant de nouvelles perspectives de recherche sur les lésions de la moelle épinière [PDF]
, 2006 Guertin, Pierre A., Lapointe, Nicolas P.
core +1 more source
Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy
Acta Neuropathologica Communications, 2018 Valérie Biancalana +9 more
doaj +1 more source
Estimation of the Quality-of-Life Impact of X-Linked Myotubular Myopathy. [PDF]
J Neuromuscul Dis, 2021 Lloyd A +5 more
europepmc +1 more source