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authFullName_s : Heinz Jungbluth
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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.
Biochemical Journal, 2006, 395 (2), pp.259-66. ⟨10.1042/BJ20051282⟩
Journal articles inserm-00383898v1
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Centronuclear (myotubular) myopathy.

Heinz Jungbluth , Carina Wallgren-Pettersson , Jocelyn Laporte
Orphanet Journal of Rare Diseases, 2008, 3, pp.26. ⟨10.1186/1750-1172-3-26⟩
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 of Neuroscience, 2019, 39 (27), pp.5269-5283. ⟨10.1523/JNEUROSCI.1833-18.2019⟩
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.
Autophagy, 2021, 17 (1), pp.1-382. ⟨10.1080/15548627.2020.1797280⟩
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.
Acta Neuropathologica Communications, 2020, 8 (1), pp.167. ⟨10.1186/s40478-020-01048-8⟩
Journal articles hal-03011775v1

164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16-18th January 2009, Naarden, The Netherlands

Heinz Jungbluth , Carina Wallgren-Pettersson , Jocelyn Laporte
Neuromuscul Disord, 2009, 19 (10), pp.721-729. ⟨10.1016/j.nmd.2009.06.373⟩
Journal articles istex hal-04094315v1