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authFullName_s : Heinz Jungbluth
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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.
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Journal articles hal-03156853v2

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.
Neuromuscular Disorders, 2019, 29 (9), pp.704-715. ⟨10.1016/j.nmd.2019.07.003⟩
Journal articles hal-03201551v1

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.
Neurology, 2021, 97 (5), ⟨10.1212/WNL.0000000000012236⟩
Journal articles hal-03714795v1

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.
Neuromuscular Disorders, 2007, 17 (4), pp.338-45. ⟨10.1016/j.nmd.2007.01.016⟩
Journal articles istex hal-00189980v1
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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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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
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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