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1

Vici syndrome: a review

Byrne, Susan, Dionisi-Vici, Carlo, Smith, Luke, Gautel, Mathias, Jungbluth, Heinz

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 848 KB

english, 2016

2

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

Fatemeh Geranmayeh, Emma Clement, Lucy H Feng, Caroline Sewry, Judith Pagan, Rachael Mein, Stephen Abbs, Louise Brueton, Anne-Marie Childs, Heinz Jungbluth, Christian G De Goede, Bryan Lynch, Jean-Pie

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 573 KB

english, 2010

3

182nd ENMC International Workshop: RYR1-related myopathies, 15–17th April 2011, Naarden, The Netherlands

Heinz Jungbluth, James J. Dowling, Ana Ferreiro, Francesco Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 216 KB

english, 2012

4

Central core disease

Heinz Jungbluth

Journal:

Orphanet Journal of Rare Diseases

Year:

2007

Language:

english

File:

PDF, 680 KB

english, 2007

5

Centronuclear (myotubular) myopathy

Heinz Jungbluth, Carina Wallgren-Pettersson, Jocelyn Laporte

Journal:

Orphanet Journal of Rare Diseases

Year:

2008

Language:

english

File:

PDF, 1.03 MB

english, 2008

6

Multi-minicore Disease

Heinz Jungbluth

Journal:

Orphanet Journal of Rare Diseases

Year:

2007

Language:

english

File:

PDF, 1.27 MB

english, 2007

7

Exertional hyperckemia might be the first manifestation of a genetic disorder

Voermans, Nicol C., Jungbluth, Heinz, Brusse, Esther, van Engelen, Baziel G., Lafôret, Pascal

Journal:

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

8

Clinical utility gene card for: Vici Syndrome

Cullup, Thomas, Dionisi-Vici, Carlo, Kho, Ay L, Yau, Shu, Mohammed, Shehla, Gautel, Mathias, Jungbluth, Heinz

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 197 KB

english, 2014

9

Rhabdomyolysis: a genetic perspective

Scalco, Renata Siciliani, Gardiner, Alice R, Pitceathly, Robert DS, Zanoteli, Edmar, Becker, Jefferson, Holton, Janice L, Houlden, Henry, Jungbluth, Heinz, Quinlivan, Ros

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.48 MB

english, 2015

10

217th ENMC International Workshop: RYR1-related Myopathies, 29-31st January 2016, Naarden, The Netherlands

Jungbluth, Heinz, Dowling, James J., Ferreiro, Ana, Muntoni, Francesco

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 655 KB

english, 2016

11

Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome

Byrne, Susan, Cullup, Thomas, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz

Journal:

Year:

2016

Language:

english

File:

PDF, 173 KB

english, 2016

12

Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy

Dafsari, Hormos Salimi, Byrne, Susan, Lin, Jean-Pierre, Pitt, Matthew, Jongbloed, Jan DH, Flinter, Frances, Jungbluth, Heinz

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 356 KB

english, 2015

13

Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives

Treves, Susan, Jungbluth, Heinz, Voermans, Nicol, Muntoni, Francesco, Zorzato, Francesco

Journal:

Seminars in Cell & Developmental Biology

Year:

2016

Language:

english

File:

PDF, 2.08 MB

english, 2016

14

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

Scalco, Renata S, Snoeck, Marc, Quinlivan, Ros, Treves, Susan, Laforét, Pascal, Jungbluth, Heinz, Voermans, Nicol C

Journal:

BMJ Open Sport & Exercise Medicine

Year:

2016

Language:

english

File:

PDF, 1.36 MB

english, 2016

15

ECEL1 gene related contractural syndrome: long-term follow-up and update on clinical and pathological aspects

Ullmann, Urielle, D'Argenzio, Luigi, Mathur, Shrey, Whyte, Tamieka, Quinlivan, Ros, Longman, Cheryl, Farrugia, Maria Elena, Manzur, Adnan, Willis, Tracey, Jungbluth, Heinz, Pitt, Matthew, Cirak, Sebah

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 765 KB

english, 2018

16

Das Schmelzen im Kupolofen

Jungbluth, Hans, Korschan, Heinz

Journal:

Archiv für das Eisenhüttenwesen

Year:

1938

File:

PDF, 1.29 MB

1938

17

Genetic neuropathies presenting with CIDP-like features in childhood

Fernandez-Garcia, Miguel A., Stettner, Georg M., Kinali, Maria, Clarke, Antonia, Fallon, Penny, Knirsch, Ursula, Wraige, Elizabeth, Jungbluth, Heinz

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 1.19 MB

2020

18

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

Ana Ferreiro, Nicole Monnier, Norma B. Romero, Jean-Paul Leroy, Carsten Bönnemann, Charles-Antoine Haenggeli, Volker Straub, Wolfgang D. Voss, Yves Nivoche, Heinz Jungbluth, Arnaud Lemainque, Thomas V

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 2.32 MB

english, 2002

19

Studies in fiber guided excimer laser surgery for cutting and drilling bone and meniscus

Martin Dressel, Dr. Renate Jahn, Walter Neu, Karl-Heinz Jungbluth

Journal:

Lasers in Surgery and Medicine

Year:

1991

Language:

english

File:

PDF, 1.10 MB

english, 1991

20

Compound heterozygosity and nonsense mutations in the α1-subunit of the inhibitory glycine receptor in hyperekplexia

Mark I. Rees, Trevor M. Lewis, Behnaz Vafa, Colin Ferrie, Peter Corry, Fransesco Muntoni, Heinz Jungbluth, John B. Stephenson, Mike Kerr, Russell G. Snell, Peter R. Schofield, Michael J. Owen

Journal:

Year:

2001

Language:

english

File:

PDF, 107 KB

english, 2001

21

Functional effects of mutations identified in patients with Multiminicore disease

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

Journal:

Year:

2007

Language:

english

File:

PDF, 560 KB

english, 2007

22

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

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

Journal:

Year:

2009

Language:

english

File:

PDF, 483 KB

english, 2009

23

Extensive white matter abnormalities associated with neonatal Parechovirus (HPeV) infection

Sachin Gupta, Daphin Fernandez, Ata Siddiqui, William C.Y. Tong, Keith Pohl, Heinz Jungbluth

Journal:

European Journal of Paediatric Neurology

Year:

2010

Language:

english

File:

PDF, 352 KB

english, 2010

24

Core Myopathies

Heinz Jungbluth, Caroline A. Sewry, Francesco Muntoni

Journal:

Seminars in Pediatric Neurology

Year:

2011

Language:

english

File:

PDF, 995 KB

english, 2011

25

What's new in neuromuscular disorders? The congenital myopathies

Heinz Jungbluth, Caroline A Sewry, Francesco Muntoni

Journal:

European Journal of Paediatric Neurology

Year:

2003

Language:

english

File:

PDF, 129 KB

english, 2003

26

A short protocol for muscle MRI in children with muscular dystrophies

EUGENIO MERCURI, ANNA PICHIECCHIO, SERENA COUNSELL, JOANNA ALLSOP, CLAUDIO CINI, HEINZ JUNGBLUTH, CARLA UGGETTI, GRAEME BYDDER

Journal:

European Journal of Paediatric Neurology

Year:

2002

Language:

english

File:

PDF, 122 KB

english, 2002

27

Muscle MRI findings in a three-generation family affected by Bethlem myopathy

EUGENIO MERCURI, CLAUDIO CINI, SERENA COUNSELL, JOANNA ALLSOP, ZUELLA ZOLKIPLI, HEINZ JUNGBLUTH, CAROLINE SEWRY, SUSAN C BROWN, GUGLIELMINA PEPE, FRANCESCO MUNTONI

Journal:

European Journal of Paediatric Neurology

Year:

2002

Language:

english

File:

PDF, 338 KB

english, 2002

28

BAG3 mutations: another cause of giant axonal neuropathy

Fatima Jaffer, Sinéad M. Murphy, Mariacristina Scoto, Estelle Healy, Alexander M. Rossor, Sebastian Brandner, Rahul Phadke, Duygu Selcen, Heinz Jungbluth, Francesco Muntoni, Mary M. Reilly

Journal:

Journal of the Peripheral Nervous System

Year:

2012

Language:

english

File:

PDF, 701 KB

english, 2012

29

Myopathic causes of exercise intolerance with rhabdomyolysis

ROS QUINLIVAN, HEINZ JUNGBLUTH

Journal:

Developmental Medicine & Child Neurology

Year:

2012

Language:

english

File:

PDF, 144 KB

english, 2012

30

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

Susan Treves, Heinz Jungbluth, Francesco Muntoni, Francesco Zorzato

Journal:

Current Opinion in Pharmacology

Year:

2008

Language:

english

File:

PDF, 642 KB

english, 2008

31

Magnetic resonance imaging of muscle in nemaline myopathy

Heinz Jungbluth, Caroline A. Sewry, Serena Counsell, Joanna Allsop, Arijit Chattopadhyay, Eugenio Mercuri, Kathryn North, Nigel Laing, Graeme Bydder, Katarina Pelin, Carina Wallgren-Pettersson, France

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 195 KB

english, 2004

32

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations

Heinz Jungbluth, Mark R. Davis, Clemens Müller, Serena Counsell, Joanna Allsop, Arijit Chattopadhyay, Sonia Messina, Eugenio Mercuri, Nigel G. Laing, Caroline A. Sewry, Graeme Bydder, Francesco Munton

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 241 KB

english, 2004

33

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9–11 November 2002, Naarden, The Netherlands

Heinz Jungbluth, Alan Beggs, Carsten Bönnemann, Kate Bushby, Chantal Ceuterick-de Groote, Brigitte Estournet-Mathiaud, Nathalie Goemans, Pascale Guicheney, Alain Lescure, Joël Lunardi, Francesco Munto

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 160 KB

english, 2004

34

RAC Hughes,Editors, ,Neurological Emergencies (Fourth Edition) (2003) BMJ Publishing Group ISBN 0-7279-1774-9. £40.

Heinz Jungbluth

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 41 KB

english, 2005

35

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

Heinz Jungbluth, Haiyan Zhou, Caroline A. Sewry, Stephanie Robb, Susan Treves, Marc Bitoun, Pascale Guicheney, Anna Buj-Bello, Carsten Bönnemann, Francesco Muntoni

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 1.09 MB

english, 2007

36

MRI in DNM2-related centronuclear myopathy: Evidence for highly selective muscle involvement

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

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 1.14 MB

english, 2007

37

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

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

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 148 KB

english, 2008

38

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

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

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 634 KB

english, 2009

39

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

Heinz Jungbluth, Francesco Muntoni, Ana Ferreiro

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 185 KB

english, 2008

40

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

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

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 338 KB

english, 2009

41

164th ENMC International workshop: 6th workshop on centronuclear (myotubular) myopathies, 16–18th January 2009, Naarden, The Netherlands

Heinz Jungbluth, Carina Wallgren-Pettersson, Jocelyn F. Laporte

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 357 KB

english, 2009

42

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

Heinz Jungbluth, Tom Cullup, Suzanne Lillis, Haiyan Zhou, Stephen Abbs, Caroline Sewry, Francesco Muntoni

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 303 KB

english, 2010

43

Quantitative muscle ultrasound in childhood neuromuscular disorders. By Sigrid Pillen. Doctoral thesis, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. ISBN/EAN: 978-90-9024201-9

Heinz Jungbluth

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 108 KB

english, 2010

44

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin

Katharine Forrest, Jemima E. Mellerio, Stephanie Robb, Patricia J.C. Dopping-Hepenstal, John A. McGrath, Lu Liu, Stefan J.A. Buk, Safa Al-Sarraj, Elizabeth Wraige, Heinz Jungbluth

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 288 KB

english, 2010

45

Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases

Claire T. Lundy, Heinz Jungbluth, Keith R.E. Pohl, Ata Siddiqui, Anthony M. Marinaki, Helen Mundy, Michael P. Champion

Journal:

Pediatric Neurology

Year:

2010

Language:

english

File:

PDF, 228 KB

english, 2010

46

Nebulin mutations in autosomal recessive nemaline myopathy: an update

Katarina Pelin, Kati Donner, Maria Holmberg, Heinz Jungbluth, Francesco Muntoni, Carina Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 344 KB

english, 2002

47

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau, Behzad Moghadaszadeh, Nathalie Goemans, Carsten Bönnemann, Heinz Jungbluth, Volker Straub, Marcello Villanova, Jean-Paul Leroy, Norma B. Romero, Jea

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 497 KB

english, 2002

48

Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies

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

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 659 KB

english, 2006

49

Emery and Rimoin's Principles and Practice of Medical Genetics || Congenital (Structural) Myopathies

Jungbluth, Heinz

Year:

2013

Language:

english

File:

PDF, 2.58 MB

english, 2013

50

RyR1 Deficiency in Congenital Myopathies Disrupts Excitation-Contraction Coupling

Zhou, Haiyan, Rokach, Ori, Feng, Lucy, Munteanu, Iulia, Mamchaoui, Kamel, Wilmshurst, Jo M., Sewry, Caroline, Manzur, Adnan Y., Pillay, Komala, Mouly, Vincent, Duchen, Michael, Jungbluth, Heinz, Treve

Journal:

Year:

2013

Language:

english

File:

PDF, 715 KB

english, 2013