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Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.
Sylvie Ducreux
,
Francesco Zorzato
,
Ana Ferreiro
,
Heinz Jungbluth
,
Francesco Muntoni
,
et al.
Journal articles
inserm-00383898v1
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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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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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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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164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16-18th January 2009, Naarden, The Netherlands
Heinz Jungbluth
,
Carina Wallgren-Pettersson
,
Jocelyn Laporte
Journal articles
istex
hal-04094315v1
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