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Making sense of missense variants in TTN-related congenital myopathies
Martin Rees
,
Roksana Nikoopour
,
Atsushi Fukuzawa
,
Ay Lin Kho
,
Miguel A Fernandez-Garcia
et al.
Journal articles
hal-03156853v2
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240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands
Jennifer Morgan
,
Gillian Butler-Browne
,
Francesco Muntoni
,
Ketan Patel
,
Helge Amthor
et al.
Journal articles
hal-03201551v1
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Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study
Stacha F. I. Reumers
,
Frederik Braun
,
Jennifer E. Spillane
,
Johann Böhm
,
Maartje Pennings
et al.
Journal articles
hal-03714795v1
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Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
Heinz Jungbluth
,
Haiyan Zhou
,
Caroline A Sewry
,
Stephanie Robb
,
Susan Treves
et al.
Journal articles
istex
hal-00189980v1
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Centronuclear (myotubular) myopathy.
Heinz Jungbluth
,
Carina Wallgren-Pettersson
,
Jocelyn Laporte
Journal articles
inserm-00350775v1
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Transcriptional Regulation of the Glutamate/GABA/Glutamine Cycle in Adult Glia Controls Motor Activity and Seizures in Drosophila
David Mazaud
,
Benjamin Kottler
,
Catarina Gonçalves-Pimentel
,
Sandra Proelss
,
Nadine Tüchler
et al.
Journal articles
hal-03447875v1
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rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy
Jacob Ross
,
Hichem Tasfaout
,
Yotam Levy
,
Jennifer Morgan
,
Belinda Cowling
et al.
Journal articles
hal-03011775v1
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)
Daniel Klionsky
,
Amal Kamal Abdel-Aziz
,
Sara Abdelfatah
,
Mahmoud Abdellatif
,
Asghar Abdoli
et al.
Journal articles
inserm-03285572v1
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