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1

Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle

Lars Klinge, John Harris, Caroline Sewry, Richard Charlton, Louise Anderson, Steve Laval, Yen-Hui Chiu, Mark Hornsey, Volker Straub, Rita Barresi, Hanns Lochmüller, Kate Bushby

Journal:

Year:

2010

Language:

english

File:

PDF, 1.49 MB

english, 2010

2

Recent developments in the management of Duchenne muscular dystrophy

Michela Guglieri, Kate Bushby

Journal:

Paediatrics and Child Health

Year:

2011

Language:

english

File:

PDF, 104 KB

english, 2011

3

Scope of centres of expertise for rare diseases in European countries where they exist

Charlotte Rodwell,Ségolène Aymé,Kate Bushby

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 82 KB

english, 2012

4

One Year Outcome of Boys With Duchenne Muscular Dystrophy Using the Bayley-III Scales of Infant and Toddler Development

Connolly, Anne M., Florence, Julaine M., Cradock, Mary M., Eagle, Michelle, Flanigan, Kevin M., McDonald, Craig M., Karachunski, Peter I., Darras, Basil T., Bushby, Kate, Malkus, Elizabeth C., Golumbe

Journal:

Pediatric Neurology

Year:

2014

Language:

english

File:

PDF, 368 KB

english, 2014

5

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations

Patrick Frosk, Cheryl R. Greenberg, Alysa A.P. Tennese, Ryan Lamont, Edward Nylen, Cheryl Hirst, Danielle Frappier, Nicole M. Roslin, Michaela Zaik, Kate Bushby, Volker Straub, Mayana Zatz, Flavia de

Journal:

Year:

2005

Language:

english

File:

PDF, 223 KB

english, 2005

6

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands

Guglielmina Pepe, Enrico Bertini, Paolo Bonaldo, Kate Bushby, Betti Giusti, Marianne de Visser, Pascale Guicheney, Giovanna Lattanzi, Luciano Merlini, Francesco Muntoni, Ichizo Nishino, Ikuya Nonaka,

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 109 KB

english, 2002

7

Novel Approaches to Corticosteroid Treatment in Duchenne Muscular Dystrophy

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

Journal:

Physical Medicine and Rehabilitation Clinics of North America

Year:

2012

Language:

english

File:

PDF, 310 KB

english, 2012

8

Interventions for muscular dystrophy: molecular medicines entering the clinic

Kate Bushby, Hanns Lochmüller, Stephen Lynn, Volker Straub

Journal:

Year:

2009

Language:

english

File:

PDF, 419 KB

english, 2009

9

Cardiomyopathy in Duchenne, Becker, and sarcoglycanopathies: A role for coronary dysfunction?

Tomaso Gnecchi-Ruscone, Jackie Taylor, Eugenio Mercuri, Giovanni Paternostro, Robert Pogue, Kate Bushby, Caroline Sewry, Francesco Muntoni, Paolo G. Camici

Journal:

Year:

1999

Language:

english

File:

PDF, 127 KB

english, 1999

10

Corticosteroids in Duchenne muscular dystrophy: Major variations in practice

Griggs, Robert C., Herr, Barbara E., Reha, Allen, Elfring, Gary, Atkinson, Leone, Cwik, Valerie, Mccoll, Elaine, Tawil, Rabi, Pandya, Shree, McDermott, Michael P., Bushby, Kate

Journal:

Year:

2013

Language:

english

File:

PDF, 151 KB

english, 2013

11

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

Eugenio Mercuri, Anne Lampe, Joanna Allsop, Ravi Knight, Marika Pane, Maria Kinali, Carsten Bonnemann, Kevin Flanigan, Ilaria Lapini, Kate Bushby, Guglielmina Pepe, Francesco Muntoni

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 315 KB

english, 2005

12

Advancing diagnosis, care and treatment for people with neuromuscular diseases around the world: a network of excellence to catalyse research infrastructure globally

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 177 KB

english, 2010

13

The context for the thematic grouping of rare diseases to facilitate the establishment of European Reference Networks

Evangelista, Teresinha, Hedley, Victoria, Atalaia, Antonio, Johnson, Matt, Lynn, Stephen, Le Cam, Yann, Bushby, Kate

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 593 KB

english, 2016

14

Magnetic resonance imaging in duchenne muscular dystrophy: Longitudinal assessment of natural history over 18 months

Hollingsworth, Kieren G., Garrood, Penny, Eagle, Michelle, Bushby, Kate, Straub, Volker

Journal:

Year:

2013

Language:

english

File:

PDF, 184 KB

english, 2013

15

A novel autosomal dominant distal myopathy with early respiratory failure: Clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci

Patrick F. Chinnery, Margaret A. Johnson, Timothy J. Walls, G. John Gibson, Peter R. W. Fawcett, Sarra Jamieson, John J. Fulthorpe, Michael Cullen, Peter Hudgson, Kate M. D. Bushby

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 2.51 MB

english, 2001

16

Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy

Srinivasan, Ramesh, Rawlings, David, Wood, Claire L., Cheetham, Tim, Moreno, Aura Cecilia Jimenez, Mayhew, Anna, Eagle, Michelle, Guglieri, Michela, Straub, Volker, Owen, Catherine, Bushby, Kate, Sark

Journal:

Year:

2016

Language:

english

File:

PDF, 141 KB

english, 2016

17

The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases

Rodger, Sunil, Lochmüller, Hanns, Tassoni, Adrian, Gramsch, Kathrin, König, Kirsten, Bushby, Kate, Straub, Volker, Korinthenberg, Rudolf, Kirschner, Janbernd

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 640 KB

english, 2013

18

Moving towards meaningful measurement: Rasch analysis of the North Star Ambulatory Assessment in Duchenne muscular dystrophy

ANNA MAYHEW, STEFAN CANO, ELAINE SCOTT, MICHELLE EAGLE, KATE BUSHBY, FRANCESCO MUNTONI, ON BEHALF OF THE NORTH STAR CLINICAL NETWORK FOR PAEDIATRIC NEUROMUSCULAR DISEASE

Journal:

Developmental Medicine & Child Neurology

Year:

2011

Language:

english

File:

PDF, 374 KB

english, 2011

19

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)

Katja Grohmann, Raymonda Varon, Piroschka Stolz, Markus Schuelke, Catrin Janetzki, Enrico Bertini, Kate Bushby, Francesco Muntoni, Robert Ouvrier, Lionel Van Maldergem, Nathalie M. L. A. Goemans, Hann

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 213 KB

english, 2003

20

The Golden Freeway: a preliminary evaluation of a pilot study advancing information technology as a social intervention for boys with Duchenne muscular dystrophy and their families

Jennifer Soutter, Neil Hamilton, Peter Russell, Chris Russell, Kate Bushby, Patricia Sloper, Kim Bartlett

Journal:

Health & Social Care in the Community

Year:

2004

Language:

english

File:

PDF, 109 KB

english, 2004

21

Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings

Bushby, Kate, Connor, Edward

Journal:

Clinical Investigation

Year:

2011

Language:

english

File:

PDF, 1.76 MB

english, 2011

22

Isotope labelling by reduction of nitriles: Application to the synthesis of isotopologues of tolmetin and celecoxib

Ellis-Sawyer, Kate, Bragg, Ryan A., Bushby, Nick, Elmore, Charles S., Hickey, Michael J.

Journal:

Journal of Labelled Compounds and Radiopharmaceuticals

Year:

2017

Language:

english

File:

PDF, 214 KB

english, 2017

23

Disorders of Voluntary Muscle || Oculopharyngeal muscular dystrophy

Karpati, George, Hilton-Jones, David, Bushby, Kate, Griggs, Robert C.

Year:

2010

Language:

english

File:

PDF, 1.32 MB

english, 2010

24

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

25

Disorders of Voluntary Muscle || Mitochondrial myopathies

Karpati, George, Hilton-Jones, David, Bushby, Kate, Griggs, Robert C.

Year:

2010

Language:

english

File:

PDF, 2.26 MB

english, 2010

26

Disorders of Voluntary Muscle || Dystrophinopathies

Karpati, George, Hilton-Jones, David, Bushby, Kate, Griggs, Robert C.

Year:

2010

File:

PDF, 1.48 MB

2010

27

Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?

Bauer, Ralf, Hudson, Judith, Müller, Harald D, Sommer, Clemens, Dekomien, Gabriele, Bourke, John, Routledge, Daniel, Bushby, Kate, Klepper, Jörg, Straub, Volker

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 188 KB

english, 2009

28

The limb-girdle muscular dystrophies

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 65 KB

english, 2001

29

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

30

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

31

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

32

Disorders of Voluntary Muscle || Ultrastructural study of muscle

Karpati, George, Hilton-Jones, David, Bushby, Kate, Griggs, Robert C.

Year:

2010

Language:

english

File:

PDF, 3.74 MB

english, 2010

33

Disorders of Voluntary Muscle || Metabolic myopathies: Defects of carbohydrate and lipid metabolism

Karpati, George, Hilton-Jones, David, Bushby, Kate, Griggs, Robert C.

Year:

2010

Language:

english

File:

PDF, 2.77 MB

english, 2010

34

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

35

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

36

Recent developments in the management of Duchenne muscular dystrophy

Guglieri, Michela, Bushby, Kate

Journal:

Paediatrics and Child Health

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

37

Disorders of Voluntary Muscle || Inflammatory myopathies

Karpati, George, Hilton-Jones, David, Bushby, Kate, Griggs, Robert C.

Year:

2010

Language:

english

File:

PDF, 9.72 MB

english, 2010

38

Disorders of Voluntary Muscle || Biochemical and molecular basis of muscle disease

Karpati, George, Hilton-Jones, David, Bushby, Kate, Griggs, Robert C.

Year:

2010

Language:

english

File:

PDF, 4.30 MB

english, 2010

39

Genetic and Physical Mapping at the Limb-Girdle Muscular Dystrophy Locus (LGMD2B) on Chromosome 2p

Rumaisa Bashir, Sharon Keers, Tom Strachan, Rita Passos-Bueno, Mayana Zatz, Jean Weissenbach, Denis Le Paslier, Miriam Meisler, Kate Bushby

Journal:

Year:

1996

Language:

english

File:

PDF, 272 KB

english, 1996

40

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

41

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

42

Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations

Harris, Elizabeth, McEntagart, Meriel, Topf, Ana, Lochmüller, Hanns, Bushby, Kate, Sewry, Caroline, Straub, Volker

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 627 KB

english, 2016

43

Challenges of the set-up process for academic led international studies of rare diseases

McColl, Elaine, Bushby, Kate, Guglieri, Michela, Davis, Becky, Watson, Gillian, Griggs, Robert, Hart, Kim

Journal:

Year:

2015

Language:

english

File:

PDF, 285 KB

english, 2015

44

Disorders of Voluntary Muscle || Diagnostic imaging of muscle

Karpati, George, Hilton-Jones, David, Bushby, Kate, Griggs, Robert C.

Year:

2010

Language:

english

File:

PDF, 5.21 MB

english, 2010

45

Fractures and Linear Growth in a Nationwide Cohort of Boys With Duchenne Muscular Dystrophy With and Without Glucocorticoid Treatment

Joseph, Shuko, Wang, Cunyi, Bushby, Kate, Guglieri, Michaela, Horrocks, Iain, Straub, Volker, Ahmed, S. Faisal, Wong, Sze Choong

Journal:

Year:

2019

File:

PDF, 360 KB

2019

46

Disorders of Voluntary Muscle || Muscle diseases with prominent muscle contractures

Karpati, George, Hilton-Jones, David, Bushby, Kate, Griggs, Robert C.

Year:

2010

Language:

english

File:

PDF, 3.32 MB

english, 2010

47

Disorders of Voluntary Muscle || Endocrine and toxic myopathies

Karpati, George, Hilton-Jones, David, Bushby, Kate, Griggs, Robert C.

Year:

2010

Language:

english

File:

PDF, 385 KB

english, 2010

48

Disorders of Voluntary Muscle || Electrophysiological evaluation of suspected myopathy

Karpati, George, Hilton-Jones, David, Bushby, Kate, Griggs, Robert C.

Year:

2010

Language:

english

File:

PDF, 811 KB

english, 2010

49

Recent advances in paediatric muscular dystrophies

Journal:

Current Paediatrics

Year:

2004

Language:

english

File:

PDF, 281 KB

english, 2004

50

Molecular treatments in Duchenne muscular dystrophy

Michela Guglieri, Kate Bushby

Journal:

Current Opinion in Pharmacology

Year:

2010

Language:

english

File:

PDF, 158 KB

english, 2010

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