Papers

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2009 Heinz Jungbluth, Suzanne Lillis, Haiyan Zhou, Stephen Abbs, Caroline Sewry, Michael Swash, Francesco Muntoni

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

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Henry Houlden, Matilde Laura, Lionel Ginsberg, Heinz Jungbluth, Stephanie A. Robb, Julian Blake, Susan Robinson, Rosalind H. M. King, Mary M. Reilly

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

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Renate Jahn, Martin Dressel, Heinz Fabian, Harald Gerhardt, J. Kesper, Karl-Friedrich Klein, Hans-Ulrich Langendorff, Walter Neu, Ulrich Sowada, Karl-Heinz Jungbluth

Excimerlaser und Taperfaser

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

Renate Jahn, Martin Dressel, Karl-Heinz Jungbluth

Charakteristische Merkmale beim Schneiden von Knochen mit einem fasergeführtem Laserstrahl

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2008 Heinz Jungbluth, Francesco Muntoni, Ana Ferreiro

150th ENMC International Workshop: Core Myopathies, 9–11th March 2007, Naarden, The Netherlands

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Farshid Ghassemi, Mirko Vukcevic, Le Xu, Haiyan Zhou, Gerhard Meissner, Francesco Muntoni, Heinz Jungbluth, Francesco Zorzato, Susan Treves

A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity

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Nomazulu Dlamini, Wajanat Jan, Fiona Norwood, Jennie Sheehan, Rachael Spahr, Safa Al-Sarraj, J. Anthony Hulse, Derralynn Hughes, Michael P. Champion, Heinz Jungbluth

Muscle MRI findings in siblings with juvenile-onset acid maltase deficiency (Pompe disease)

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Heinz Jungbluth, Carina Wallgren-Pettersson, Jocelyn Laporte

Centronuclear (myotubular) myopathy.

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Susan Treves

, Heinz Jungbluth, Francesco Muntoni, Francesco Zorzato

Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm

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2007 Heinz Jungbluth

Multi-minicore Disease

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Heinz Jungbluth

Central core disease

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Heinz Jungbluth, Haiyan Zhou, Caroline A. Sewry, Stephanie Robb, Susan Treves

, Marc Bitoun, Pascale Guicheney, Anna Buj-Bello, Carsten Bönnemann, Francesco Muntoni

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.

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Heinz Jungbluth, Heinz Jungbluth@gstt

Orphanet Journal of Rare Diseases

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Haiyan Zhou, Heinz Jungbluth, Caroline A. Sewry, Lucy Feng, Enrico Bertini, Kate Bushby, Volker Straub, Helen Roper, Michael R. Rose, Martin Brockington, Maria Kinali, Adnan Manzur, Stephanie Robb, Richard Appleton, Sonia Messina

and 8 other authors

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

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Heinz Jungbluth, Caroline A. Sewry, Francesco Muntoni

The Congenital Myopathies

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Francesco Zorzato, Heinz Jungbluth, Haiyan Zhou, Francesco Muntoni, Susan Treves

Functional effects of mutations identified in patients with multiminicore disease

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Joachim Schessl, Livija Medne, Ying Hu, Yaqun Zou, Mark J. Brown, Jason T. Huse, Drew A. Torigian, Heinz Jungbluth, Hans-Hilmar Goebel, Carsten G. Bönnemann

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2006 Haiyan Zhou, Martin Brockington, Heinz Jungbluth, David Monk, Philip Stanier, Caroline A. Sewry, Gudrun E. Moore, Francesco Muntoni

Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies

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Naohiro Yamaguchi, Haiyan Zhou, Le Xu, Ying Wang, Caroline Sewry, Francesco Zorzato, Heinz Jungbluth, Enrico Bertini, Francesco Muntoni, Gerhard Meissner, Susan Treves

Characterization of recessive RYR1 mutations in core myopathies

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

Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes

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