Bilaketaren emaitzak - Heinz Jungbluth

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  1. 1
    Multi-minicore Disease

    Multi-minicore Disease nork Heinz Jungbluth

    Argitaratua 2007
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  2. 2
    Central core disease

    Central core disease nork Heinz Jungbluth

    Argitaratua 2007
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  3. 3
    Pathogenic Mechanisms in Centronuclear Myopathies

    Pathogenic Mechanisms in Centronuclear Myopathies nork Heinz Jungbluth, Mathias Gautel

    Argitaratua 2014
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  4. 4
    Congenital myopathies: not only a paediatric topic

    Congenital myopathies: not only a paediatric topic nork Heinz Jungbluth, Nicol C. Voermans

    Argitaratua 2016
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  5. 5
    Centronuclear (myotubular) myopathy

    Centronuclear (myotubular) myopathy nork Heinz Jungbluth, Carina Wallgren‐Pettersson, Jocelyn Laporte

    Argitaratua 2008
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  6. 6
    Vici syndrome: a review

    Vici syndrome: a review nork Susan Byrne, Carlo Dionisi‐Vici, Luke J. Smith, Mathias Gautel, Heinz Jungbluth

    Argitaratua 2016
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  7. 7
    Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies

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

    Argitaratua 2006
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  8. 8
    Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

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

    Argitaratua 2015
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  9. 9
    Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

    Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy? nork R. Scalco, M.M.J. Snoeck, Rosaline C. M. Quinlivan, Susan Treves, Pascal Laforêt, Heinz Jungbluth, Nicol C. Voermans

    Argitaratua 2016
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  10. 10
    Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?

    Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? nork R. Scalco, Paulo José Lorenzoni, David S. Lynch, William Alves Martins, Heinz Jungbluth, Rosaline C. M. Quinlivan, Jéfferson Becker, Henry Houlden

    Argitaratua 2017
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  11. 11
    Rhabdomyolysis: a genetic perspective

    Rhabdomyolysis: a genetic perspective nork R. Scalco, A. Gardiner, Robert D. S. Pitceathly, Edmar Zanoteli, Jéfferson Becker, Janice L. Holton, Henry Houlden, Heinz Jungbluth, Rosaline C. M. Quinlivan

    Argitaratua 2015
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  12. 12
    Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy

    Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy nork Lilli Winter, Matthias Türk, Patrick N. Harter, Michel Mittelbronn, Cornelia Kornblum, Fiona Norwood, Heinz Jungbluth, Christian T. Thiel, Ursula Schlötzer‐Schrehardt, Rolf Schröder

    Argitaratua 2016
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  13. 13
    The use of rituximab in myasthenia gravis and Lambert-Eaton myasthenic syndrome

    The use of rituximab in myasthenia gravis and Lambert-Eaton myasthenic syndrome nork Peter J. Maddison, J. McConville, Maria Elena Farrugia, Nigel P. Davies, Michael R. Rose, F. Norwood, Heinz Jungbluth, S. Robb, David Hilton‐Jones

    Argitaratua 2010
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  14. 14
    Integrated single‐cell functional‐proteomic profiling reveals a shift in myofibre specificity in human nemaline myopathy: A proof‐of‐principle study

    Integrated single‐cell functional‐proteomic profiling reveals a shift in myofibre specificity in human nemaline myopathy: A proof‐of‐principle study nork Robert A. Seaborne, Roger Moreno‐Justicia, Jenni Laitila, Christopher T. A. Lewis, Lola Savoure, Edmar Zanoteli, Michael W. Lawlor, Heinz Jungbluth, Atul S. Deshmukh, Julien Ochala

    Argitaratua 2025
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  15. 15
    Congenital myopathies

    Congenital myopathies nork Irene Colombo, Mariacristina Scoto, Adnan Y. Manzur, S. Robb, Lorenzo Maggi, Vasantha Gowda, Thomas Cullup, Michael Yau, Rahul Phadke, Caroline A. Sewry, Heinz Jungbluth, Francesco Muntoni

    Argitaratua 2014
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  16. 16
    The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

    The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy nork Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan Byrne, Michael R. Duchen, Mathias Gautel, Eeva‐Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth

    Argitaratua 2021
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  17. 17
    Abnormal myosin post‐translational modifications and <scp>ATP</scp> turnover time associated with human congenital myopathy‐related <i>RYR1</i> mutations

    Abnormal myosin post‐translational modifications and <scp>ATP</scp> turnover time associated with human congenital myopathy‐related <i>RYR1</i> mutations nork Alexander Sonne, Anna Katarina Antonovic, Elise G. Melhedegaard, Fariha Akter, Jesper L. Andersen, Heinz Jungbluth, Nanna Witting, John Vissing, Edmar Zanoteli, Arianna Fornili, Julien Ochala

    Argitaratua 2023
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  18. 18
    Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

    Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing nork Mariacristina Scoto, Thomas Cullup, Sebahattin Çirak, Shu Yau, Adnan Y. Manzur, Lucy Feng, Thomas S. Jacques, Glenn Anderson, Stephen Abbs, Caroline A. Sewry, Heinz Jungbluth, Francesco Muntoni

    Argitaratua 2013
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  19. 19
    Fetal acetylcholine receptor inactivation syndrome

    Fetal acetylcholine receptor inactivation syndrome nork Yael Hacohen, Leslie Jacobson, Susan Byrne, Fiona Norwood, Abhimanu Lall, S. Robb, Robertino Dilena, Monica Fumagalli, Alfred Peter Born, D Clarke, Ming Lim, Angela Vincent, Heinz Jungbluth

    Argitaratua 2014
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  20. 20
    Stall in Canonical Autophagy-Lysosome Pathways Prompts Nucleophagy-Based Nuclear Breakdown in Neurodegeneration

    Stall in Canonical Autophagy-Lysosome Pathways Prompts Nucleophagy-Based Nuclear Breakdown in Neurodegeneration nork Olga Baron, Adel Boudi, Catarina Dias, Michael Schilling, Anna Nölle, Gema Vizcay‐Barrena, Ivan Rattray, Heinz Jungbluth, Wiep Scheper, Roland A. Fleck, Gillian P. Bates, Manolis Fanto

    Argitaratua 2017
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