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Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome

Böhm, Johann; Laporte, Jocelyn

Cell calcium: the international interdisciplinary forum for research on calcium. Volume 76: (2018, December); pp 1-9 -- Elsevier

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Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome

Böhm, Johann; Laporte, Jocelyn

Cell calcium: the international interdisciplinary forum for research on calcium. Volume 76 (2018); pp 1-9 -- Elsevier

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Tubular aggregate myopathy and Stormorken syndrome

Böhm, Johann; Laporte, Jocelyn

M/S: médecine / sciences. Volume 34 (2018) Hors serie 2; pp 26-31 -- Éditions EDK

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WANTED – Dead or alive: Myotubularins, a large disease-associated protein family

Raess, Matthieu A. et al.

Advances in biological regulation. Volume 63 (2017, January); pp 49-58 -- Elsevier

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WANTED – Dead or alive: Myotubularins, a large disease-associated protein family

Raess, Matthieu A. et al.

Elsevier -- 2017

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Extensive morphological and immunohistochemical characterization in myotubular myopathy

Shichiji, Minobu et al.

Brain and behavior. Volume 3:Issue 4 (2013, July); pp 476-486 -- Wiley Periodicals, Inc

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The myotubularin–amphiphysin 2 complex in membrane tubulation and centronuclear myopathies

Royer, Barbara et al.

EMBO reports. Volume 14:Number 10 (2013); pp 907-915 -- WILEY-VCH Verlag GmbH & Co. KGaA

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214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015

Donkervoort, Sandra et al.

NEUROMUSCULAR DISORDERS. Volume 29:Number 8 (2019, August); pp 644-650

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In vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy

Mercier, Luc et al.

Intravital -- Taylor & Francis -- Volume: 5 1; -- 2016

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In vivo imaging of skeletal muscle in mice highlights muscle defects in a model of myotubular myopathy

Mercier, Luc et al.

Intravital. Volume 5:Issue 1 (2016) -- Taylor & Francis

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