Resultats de la cerca - Jungbluth, Heinz

Central core disease per Jungbluth, Heinz

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Multi-minicore Disease per Jungbluth, Heinz

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Pathogenic Mechanisms in Centronuclear Myopathies per Jungbluth, Heinz, Gautel, Mathias

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Genetic disorders of thyroid metabolism and brain development per Kurian, Manju A, Jungbluth, Heinz

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Centronuclear (myotubular) myopathy per Jungbluth, Heinz, Wallgren-Pettersson, Carina, Laporte, Jocelyn

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Clinical utility gene card for: Multi-minicore disease per Lillis, Suzanne, Abbs, Steve, Ferreiro, Ana, Muntoni, Francesco, Jungbluth, Heinz

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Clinical utility gene card for: Central core disease per Lillis, Suzanne, Abbs, Stephen, Mueller, Clemens R, Muntoni, Francesco, Jungbluth, Heinz

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Vici syndrome: a review per Byrne, Susan, Dionisi-Vici, Carlo, Smith, Luke, Gautel, Mathias, Jungbluth, Heinz

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Salbutamol-responsive fetal acetylcholine receptor inactivation syndrome per Allen, Nicholas M., Hacohen, Yael, Palace, Jacqueline, Beeson, David, Vincent, Angela, Jungbluth, Heinz

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Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy? per Scalco, Renata S, Snoeck, Marc, Quinlivan, Ros, Treves, Susan, Laforét, Pascal, Jungbluth, Heinz, Voermans, Nicol C

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Clinical utility gene card for: Vici Syndrome per Cullup, Thomas, Dionisi-Vici, Carlo, Kho, Ay L, Yau, Shu, Mohammed, Shehla, Gautel, Mathias, Jungbluth, Heinz

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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 i... per Ducreux, Sylvie, Zorzato, Francesco, Ferreiro, Ana, Jungbluth, Heinz, Muntoni, Francesco, Monnier, Nicole, Müller, Clemens R., Treves, Susan

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Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies per Zhou, Haiyan, Brockington, Martin, Jungbluth, Heinz, Monk, David, Stanier, Philip, Sewry, Caroline A., Moore, Gudrun E., Muntoni, Francesco

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A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity per Ghassemi, Farshid, Vukcevic, Mirko, Xu, Le, Zhou, Haiyan, Meissner, Gerhard, Muntoni, Francesco, Jungbluth, Heinz, Zorzato, Francesco, Treves, Susan

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Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism per Ebrahimi-Fakhari, Darius, Saffari, Afshin, Wahlster, Lara, Lu, Jenny, Byrne, Susan, Hoffmann, Georg F., Jungbluth, Heinz, Sahin, Mustafa

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Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? per Scalco, Renata Siciliani, Lorenzoni, Paulo José, Lynch, David S., Martins, William Alves, Jungbluth, Heinz, Quinlivan, Ros, Becker, Jefferson, Houlden, Henry

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Clinical utility gene card for: Centronuclear and myotubular myopathies per Biancalana, Valérie, Beggs, Alan H, Das, Soma, Jungbluth, Heinz, Kress, Wolfram, Nishino, Ichizo, North, Kathryn, Romero, Norma B, Laporte, Jocelyn

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Mapping the current evidence on the anesthetic management of adult patients with neuromuscular disorders—a scoping review per van den Bersselaar, Luuk R., Gubbels, Madelief, Riazi, Sheila, Heytens, Luc, Jungbluth, Heinz, Voermans, Nicol C., Snoeck, Marc M. J.

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Anaesthesia and neuromuscular disorders: what a neurologist needs to know per van den Bersselaar, Luuk R, Snoeck, Marc M J, Gubbels, Madelief, Riazi, Sheila, Kamsteeg, Erik-Jan, Jungbluth, Heinz, Voermans, Nicol C

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Rhabdomyolysis: a genetic perspective per Scalco, Renata Siciliani, Gardiner, Alice R, Pitceathly, Robert DS, Zanoteli, Edmar, Becker, Jefferson, Holton, Janice L, Houlden, Henry, Jungbluth, Heinz, Quinlivan, Ros

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