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51

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

52

128th ENMC International Workshop on ‘Preclinical optimization and Phase I/II Clinical Trials Using Antisense Oligonucleotides in Duchenne Muscular Dystrophy’ 22–24 October 2004, Naarden, The Netherlands

Francesco Muntoni, Kate Bushby, Gertjan van Ommen

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 118 KB

english, 2005

53

Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure

Daniel Birchall, Maja von der Hagen, David Bates, Kate M.D. Bushby, Patrick F. Chinnery

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 212 KB

english, 2005

54

Louise Anderson (1953–2005)

Kate Bushby, Jacques S. Beckmann, Jean-Claude Kaplan

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 58 KB

english, 2005

55

Muscular Dystrophy Campaign Funded Workshop on Management of Scoliosis in Duchenne Muscular Dystrophy 24 January 2005, London, UK

Francesco Muntoni, Kate Bushby, Adnan Y. Manzur

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 128 KB

english, 2006

56

Severe phenotype in infantile facioscapulohumeral muscular dystrophy

Lars Klinge, Michelle Eagle, Irene D. Haggerty, Catherine E. Roberts, Volker Straub, Kate M. Bushby

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 134 KB

english, 2006

57

Managing Duchenne muscular dystrophy – The additive effect of spinal surgery and home nocturnal ventilation in improving survival

Michelle Eagle, John Bourke, Robert Bullock, Mike Gibson, Jwalant Mehta, Dave Giddings, Volker Straub, Kate Bushby

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 106 KB

english, 2007

58

The m.5650G > A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy

Robert McFarland, Helen Swalwell, Emma L. Blakely, Langping He, Emma J. Groen, Douglass M. Turnbull, Kate M. Bushby, Robert W. Taylor

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 470 KB

english, 2008

59

149th ENMC International Workshop and 1st TREAT-NMD Workshop on: “Planning Phase I/II Clinical trials using Systemically Delivered Antisense Oligonucleotides in Duchenne Muscular Dystrophy”

Francesco Muntoni, Kate D. Bushby, Gertjan van Ommen

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 117 KB

english, 2008

60

Caveolinopathy – New mutations and additional symptoms

Ahmed Aboumousa, Jessica Hoogendijk, Richard Charlton, Rita Barresi, Ralf Herrmann, Thomas Voit, Judith Hudson, Mark Roberts, David Hilton-Jones, Michelle Eagle, Kate Bushby, Volker Straub

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 308 KB

english, 2008

61

Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype?

Lars Klinge, Gabriele Dekomien, Ahmed Aboumousa, Richard Charlton, Jörg T. Epplen, Rita Barresi, Kate Bushby, Volker Straub

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 355 KB

english, 2008

62

157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands

Anna Sárközy, Kate Bushby, Christophe Béroud, Hanns Lochmüller

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 214 KB

english, 2008

63

Immunohistochemical analysis of calpain 3: Advantages and limitations in diagnosing LGMD2A

Richard Charlton, Matthew Henderson, Julie Richards, Judith Hudson, Volker Straub, Kate Bushby, Rita Barresi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 881 KB

english, 2009

64

Attenuation of adverse cardiac effects in prednisolone-treated δ-sarcoglycan-deficient mice by mineralocorticoid-receptor-antagonism

Ralf Bauer, Alison Blain, Elizabeth Greally, Hanns Lochmüller, Kate Bushby, Guy A. MacGowan, Volker Straub

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 629 KB

english, 2010

65

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials

Virginia Arechavala-Gomeza, Maria Kinali, Lucy Feng, Michela Guglieri, Geraldine Edge, Marion Main, David Hunt, Jan Lehovsky, Volker Straub, Kate Bushby, Caroline A. Sewry, Jennifer E. Morgan, Frances

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 742 KB

english, 2010

66

166th ENMC International Workshop on Collagen type VI-related Myopathies, 22–24 May 2009, Naarden, The Netherlands

Valérie Allamand, Luciano Merlini, Kate Bushby

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 199 KB

english, 2010

67

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

Zagaa Odgerel, Anna Sarkozy, Hee-Suk Lee, Caoimhe McKenna, Julia Rankin, Volker Straub, Hanns Lochmüller, Francalanci Paola, Adele D’Amico, Enrico Bertini, Kate Bushby, Lev G. Goldfarb

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 707 KB

english, 2010

68

172nd ENMC International Workshop: Dysferlinopathies 29–31 January 2010, Naarden, The Netherlands

Martin Krahn, Isabel Illa, Nicolas Lévy, Kate Bushby

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 325 KB

english, 2011

69

Endocrine Aspects of Duchenne Muscular Dystrophy

Maria Luisa Bianchi, Doug Biggar, Kate Bushby, Alan D. Rogol, Meilan M. Rutter, Brian Tseng

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 113 KB

english, 2011

70

Transition to adulthood for young men with Duchenne muscular dystrophy: Research from the UK

David Abbott, John Carpenter, Kate Bushby

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 119 KB

english, 2012

71

Abnormalities in α-Dystroglycan Expression in MDC1C and LGMD2I Muscular Dystrophies

Susan C. Brown, Silvia Torelli, Martin Brockington, Yeliz Yuva, Cecilia Jimenez, Lucy Feng, Louise Anderson, Isabella Ugo, Stephan Kroger, Kate Bushby, Thomas Voit, Caroline Sewry, Francesco Muntoni

Journal:

The American Journal of Pathology

Year:

2004

Language:

english

File:

PDF, 1.34 MB

english, 2004

72

Dysferlinopathy (LGMD2B): a 23-year follow-up study of 10 patients homozygous for the same frameshifting dysferlin mutations

Ibrahim Mahjneh, Giampiero Marconi, Kate Bushby, Louise V.B Anderson, Henna Tolvanen-Mahjneh, Hannu Somer

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 422 KB

english, 2001

73

Bethlem myopathy (BETHLEM) 86th ENMC International Workshop, 10–11 November 2000, Naarden, The Netherlands

Guglielmina Pepe, Marianne de Visser, Enrico Bertini, Kate Bushby, Olga Camacho Vanegas, Mon-Li Chu, Giovanna Lattanzi, Luciano Merlini, Francesco Muntoni, Andoni Urtizberea

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 108 KB

english, 2002

74

Mutations in the nebulin gene can cause severe congenital nemaline myopathy

Carina Wallgren-Pettersson, Kati Donner, Caroline Sewry, Emilia Bijlsma, Martin Lammens, Kate Bushby, Maria Luisa Giovannucci Uzielli, Elisabetta Lapi, Sylvie Odent, Zuhal Akcoren, Haluk Topaloğlu, Ka

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 227 KB

english, 2002

75

Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation

Michelle Eagle, Simon V Baudouin, Colin Chandler, David R Giddings, Robert Bullock, Kate Bushby

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 72 KB

english, 2002

76

Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A)

Melissa J Spencer, James G Tidball, Louise V.B Anderson, Kate M.D Bushby, John B Harris, M.Rita Passos-Bueno, Hannu Somer, Mariz Vainzof, Mayana Zatz

Journal:

Journal of the Neurological Sciences

Year:

1997

Language:

english

File:

PDF, 1.44 MB

english, 1997

77

European Reference Networks: developing a EUCERD opinion

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 82 KB

english, 2012

78

Scientific program

Evangelista, Teresinha, van Engelen, Baziel, Bushby, Kate

Journal:

Journal of Endodontics

Year:

1988

Language:

english

File:

PDF, 211 KB

english, 1988

79

200th ENMC International Workshop “European Reference Networks: Recommendations and Criteria in the Neuromuscular field”, 18–20 October 2013, Naarden, the Netherlands

Evangelista, Teresinha, van Engelen, Baziel, Bushby, Kate

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 218 KB

english, 2014

80

Volume 4: Subject Index

Hoffman, Eric P., Reeves, Erica, Damsker, Jesse, Nagaraju, Kanneboyina, McCall, John M., Connor, Edward M., Bushby, Kate

Journal:

Clinical Gastroenterology and Hepatology

Year:

2006

Language:

english

File:

PDF, 126 KB

english, 2006

81

Report on the 12th ENMC Sponsored International Workshop — The “Limb-Girdle” Muscular Dystrophies

Journal:

Neuromuscular Disorders

Year:

1992

Language:

english

File:

PDF, 217 KB

english, 1992

82

Presymptomatic late-onset Pompe disease identified by the dried blood spot test

Wagner, Matias, Chaouch, Amina, Müller, Juliane S., Polvikoski, Tuomo, Willis, Tracey A., Sarkozy, Anna, Eagle, Michelle, Bushby, Kate, Straub, Volker, Lochmüller, Hanns

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 639 KB

english, 2013

83

Muscular dystrophy in dysferlin-deficient mouse models

Hornsey, Mark A., Laval, Steven H., Barresi, Rita, Lochmüller, Hanns, Bushby, Kate

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 230 KB

english, 2013

84

Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND)

McDermott, Christopher J, Roberts, Dewi, Tomkins, Janine, Bushby, Kate M, Shaw, Pamela J

Journal:

Amyotrophic Lateral Sclerosis

Year:

2003

Language:

english

File:

PDF, 87 KB

english, 2003

85

Intolerance to β-blockade in a mouse model of δ-sarcoglycan-deficient muscular dystrophy cardiomyopathy

Bauer, Ralf, Blain, Alison, Greally, Elizabeth, Bushby, Kate, Lochmüller, Hanns, Laval, Steve, Straub, Volker, MacGowan, Guy A.

Journal:

European Journal of Heart Failure

Year:

2010

Language:

english

File:

PDF, 306 KB

english, 2010

86

Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy

Mayhew, Anna G, Cano, Stefan J, Scott, Elaine, Eagle, Michelle, Bushby, Kate, Manzur, Adnan, Muntoni, Francesco

Journal:

Developmental Medicine & Child Neurology

Year:

2013

Language:

english

File:

PDF, 381 KB

english, 2013

87

Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I

Hollingsworth, Kieren G., Willis, Tracey A., Bates, Matthew G.D., Dixon, Ben J., Lochmüller, Hanns, Bushby, Kate, Bourke, John, MacGowan, Guy A., Straub, Volker

Journal:

European Journal of Heart Failure

Year:

2013

Language:

english

File:

PDF, 330 KB

english, 2013

88

Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy

Lynn, Stephen, Aartsma-Rus, Annemieke, Bushby, Kate, Furlong, Pat, Goemans, Nathalie, De Luca, Annamaria, Mayhew, Anna, McDonald, Craig, Mercuri, Eugenio, Muntoni, Francesco, Pohlschmidt, Marita, Vers

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.04 MB

english, 2015

89

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin ( MYH7 ) Distal Myopathy

Lamont, Phillipa J., Wallefeld, William, Hilton-Jones, David, Udd, Bjarne, Argov, Zohar, Barboi, Alexandru C., Bonneman, Carsten, Boycott, Kym M., Bushby, Kate, Connolly, Anne M., Davies, Nicholas, Be

Journal:

Year:

2014

Language:

english

File:

PDF, 760 KB

english, 2014

90

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

Bashlr, Rumaisa, Strachan, Tom, Keers, Sharon, Stephenson, Anthea, Mahjneh, Ibrahim, Marconi, Giamplero, Nashef, Lina, Bushby, Kate M. D.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 232 KB

english, 1994

91

Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G

Barresi, Rita, Morris, Charlotte, Hudson, Judith, Curtis, Elizabeth, Pickthall, Clare, Bushby, Kate, Davies, Nicholas P., Straub, Volker

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.03 MB

english, 2015

92

Reverse Engineering Gene Network Identifies New Dysferlin-interacting Proteins

Cacciottolo, Mafalda, Belcastro, Vincenzo, Laval, Steve, Bushby, Kate, di Bernardo, Diego, Nigro, Vincenzo

Journal:

Journal of Biological Chemistry

Year:

2011

Language:

english

File:

PDF, 2.31 MB

english, 2011

93

Phenotypic variability of TRPV4 related neuropathies

Evangelista, Teresinha, Bansagi, Boglarka, Pyle, Angela, Griffin, Helen, Douroudis, Konstantinos, Polvikoski, Tuomo, Antoniadi, Thalia, Bushby, Kate, Straub, Volker, Chinnery, Patrick F., Lochmüller,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.56 MB

english, 2015

94

The impact of integrated omics technologies for patients with rare diseases

Johnston, Louise, Thompson, Rachel, Turner, Catherine, Bushby, Kate, Lochmüller, Hanns, Straub, Volker

Journal:

Expert Opinion on Orphan Drugs

Year:

2014

Language:

english

File:

PDF, 225 KB

english, 2014

95

Current trends in biobanking for rare diseases: a review [Corrigendum]

Graham, Caroline, Dawkins, Hugh, Baynam, Gareth, Lockmuller, Hanns, Bushby, Kate, Monaco, Lucia, Zatloukal, Kurt, Rubinstein, Yaffa, Mora, Marina, Knoppers, Bartha Maria, Terry, Sharon, Hansson, Mats,

Journal:

Journal of Biorepository Science for Applied Medicine

Year:

2015

Language:

english

File:

PDF, 83 KB

english, 2015

96

Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy

Bauer, Ralf, Straub, Volker, Blain, Alison, Bushby, Kate, MacGowan, Guy A.

Journal:

European Journal of Heart Failure

Year:

2009

Language:

english

File:

PDF, 425 KB

english, 2009

97

Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene

Sarkozy, Anna, Windpassinger, Christian, Hudson, Judith, Dougan, Charlotte F, Lecky, Bryan, Hilton-Jones, David, Eagle, Michelle, Charlton, Richard, Barresi, Rita, Lochmüller, Hanns, Bushby, Kate, Str

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 423 KB

english, 2011

98

206th ENMC International Workshop: Care for a novel group of patients – adults with Duchenne muscular dystrophy Naarden, The Netherlands, 23–25 May 2014

Rahbek, Jes, Steffensen, Birgit F., Bushby, Kate, de Groot, Imelda J.M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 409 KB

english, 2015

99

Short stature and pubertal delay in Duchenne muscular dystrophy

Wood, Claire L, Straub, Volker, Guglieri, Michela, Bushby, Kate, Cheetham, Tim

Journal:

Archives of Disease in Childhood

Year:

2015

Language:

english

File:

PDF, 2.03 MB

english, 2015

100

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

van den Bergen, Janneke C, Hiller, Monika, Böhringer, Stefan, Vijfhuizen, Linda, Ginjaar, Hendrika B, Chaouch, Amina, Bushby, Kate, Straub, Volker, Scoto, Mariacristina, Cirak, Sebahattin, Humbertclau

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2015

Language:

english

File:

PDF, 1009 KB

english, 2015