Resultados de procura - Jungbluth, Heinz

Central core disease por Jungbluth, Heinz

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Multi-minicore Disease por Jungbluth, Heinz

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

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

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

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

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

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

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