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1

Multi-minicore Disease 著者: Heinz Jungbluth

出版事項 2007

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Central core disease 著者: Heinz Jungbluth

出版事項 2007

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Pathogenic Mechanisms in Centronuclear Myopathies 著者: Heinz Jungbluth, Mathias Gautel

出版事項 2014

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

出版事項 2016

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

出版事項 2008

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

出版事項 2016

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

出版事項 2006

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Artigo

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

出版事項 2015

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

出版事項 2016

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10

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

出版事項 2017

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11

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

出版事項 2015

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12

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

出版事項 2016

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Artigo

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13

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

出版事項 2010

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14

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

出版事項 2025

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15

Congenital myopathies 著者: 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

出版事項 2014

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16

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy 著者: 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

出版事項 2021

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17

Abnormal myosin post‐translational modifications and <scp>ATP</scp> turnover time associated with human congenital myopathy‐related <i>RYR1</i> mutations 著者: 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

出版事項 2023

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18

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing 著者: 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

出版事項 2013

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19

Fetal acetylcholine receptor inactivation syndrome 著者: 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

出版事項 2014

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20

Stall in Canonical Autophagy-Lysosome Pathways Prompts Nucleophagy-Based Nuclear Breakdown in Neurodegeneration 著者: 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

出版事項 2017

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検索結果 - Heinz Jungbluth

Multi-minicore Disease 著者: Heinz Jungbluth

Central core disease 著者: Heinz Jungbluth

Pathogenic Mechanisms in Centronuclear Myopathies 著者: Heinz Jungbluth, Mathias Gautel

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

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

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

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

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

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

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

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

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

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

Congenital myopathies 著者: 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

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy 著者: 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

Fetal acetylcholine receptor inactivation syndrome 著者: 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

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