Rezultati - Jungbluth, Heinz

Central core disease od Jungbluth, Heinz

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Multi-minicore Disease od Jungbluth, Heinz

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

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

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

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

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

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

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Salbutamol-responsive fetal acetylcholine receptor inactivation syndrome od 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? od 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 od 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... od 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 od 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 od 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 od 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? od 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 od 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 od 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 od 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 od 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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