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1

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

2

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

3

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

4

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

5

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

6

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

7

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

8

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

9

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

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

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

12

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

13

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

14

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

15

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

16

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

17

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

18

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

19

SOX2 anophthalmia syndrome

Nicola K. Ragge, Birgit Lorenz, Adele Schneider, Kate Bushby, Luisa de Sanctis, Ugo de Sanctis, Alison Salt, J. Richard O. Collin, Anthony J. Vivian, Samantha L. Free, Pamela Thompson, Kathleen A. Wil

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 248 KB

english, 2005

20

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

21

Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I

Maja Poppe, John Bourke, Michelle Eagle, Patrick Frosk, Klaus Wrogemann, Cheryl Greenberg, Francesco Muntoni, Thomas Voit, Volker Straub, David Hilton-Jones, Cheerag Shirodaria, Kate Bushby

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 68 KB

english, 2004

22

Dysferlin-deficient muscular dystrophy features amyloidosis

Simone Spuler, Miriam Carl, Joanna Zabojszcza, Volker Straub, Kate Bushby, Steven A. Moore, Sylvia Bähring, Katrin Wenzel, Uwe Vinkemeier, Christoph Rocken

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 898 KB

english, 2008

23

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

Emma Clement, Eugenio Mercuri, Caroline Godfrey, Janine Smith, Stephanie Robb, Maria Kinali, Volker Straub, Kate Bushby, Adnan Manzur, Beril Talim, Frances Cowan, Ros Quinlivan, Andrea Klein, Cheryl L

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 174 KB

english, 2008

24

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Vilma-Lotta Lehtokari, Katarina Pelin, Maria Sandbacka, Salla Ranta, Kati Donner, Francesco Muntoni, Caroline Sewry, Corrado Angelini, Kate Bushby, Peter Van den Bergh, Susan Iannaccone, Nigel G. Lain

Journal:

Year:

2006

Language:

english

File:

PDF, 375 KB

english, 2006

25

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

Nigel F. Clarke, Leigh B. Waddell, Sandra T. Cooper, Margaret Perry, Robert L.L. Smith, Andrew J. Kornberg, Francesco Muntoni, Suzanne Lillis, Volker Straub, Kate Bushby, Michela Guglieri, Mary D. Kin

Journal:

Year:

2010

Language:

english

File:

PDF, 531 KB

english, 2010

26

Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps

Iris Eisenberg, Gil Grabov-Nardini, Hagit Hochner, Mira Korner, Menachem Sadeh, Tulio Bertorini, Kate Bushby, Claudio Castellan, Kevin Felice, Jerry Mendell, Luciano Merlini, Christopher Shilling, Its

Journal:

Year:

2003

Language:

english

File:

PDF, 41 KB

english, 2003

27

MR imaging in Duchenne muscular dystrophy: Quantification of T1-weighted signal, contrast uptake, and the effects of exercise

Penelope Garrood, Kieren G. Hollingsworth, Michelle Eagle, Benjamin S. Aribisala, Daniel Birchall, Kate Bushby, Volker Straub

Journal:

Journal of Magnetic Resonance Imaging

Year:

2009

Language:

english

File:

PDF, 419 KB

english, 2009

28

Therapeutic Possibilities in the Autosomal Recessive Limb-Girdle Muscular Dystrophies

Volker Straub, Kate Bushby

Journal:

Neurotherapeutics

Year:

2008

Language:

english

File:

PDF, 94 KB

english, 2008

29

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

Martin Brockington, Susan C. Brown, Anne Lampe, Yeliz Yuva, Lucy Feng, Cecilia Jimenez-Mallebrera, Caroline A. Sewry, Kevin M. Flanigan, Kate Bushby, Francesco Muntoni

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 176 KB

english, 2004

30

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study

Anthonie J. Essen, Stephen Abbs, Montserrat Baiget, Egbert Bakker, Catherine Boileau, Christine Broeckhoven, Kate Bushby, Angus Clarke, Mireille Claustres, Angela E. Covone, Maurizio Ferrari, Alessand

Journal:

Year:

1992

Language:

english

File:

PDF, 903 KB

english, 1992

31

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

32

Genetics and the muscular dystrophies

Journal:

Developmental Medicine & Child Neurology

Year:

2000

Language:

english

File:

PDF, 69 KB

english, 2000

33

Emotional impact of a paediatric exon-skipping therapy trial

Maria Elena Garralda, Maria Kinali, Sebahattin Cirak, Kate Bushby, Michela Guglieri, Volker Straub, Francesco Muntoni

Journal:

Developmental Medicine & Child Neurology

Year:

2011

Language:

english

File:

PDF, 353 KB

english, 2011

34

10.1038/1689

Bushby, Kate, Bashir, Rumaisa, Britton, Stephen, Strachan, Tom, Keers, Sharon, Vafiadaki, Elizabeth, Lako, Majlinda, Richard, Isabelle, Marchand, Sylvie, Bourg, Nathalie, Argov, Zohar, Sadeh, Menachem

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 483 KB

english, 1998

35

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

36

Survey of behaviour problems in children with neuromuscular diseases

Joanne Darke, Kate Bushby, Ann Le Couteur, Helen McConachie

Journal:

European Journal of Paediatric Neurology

Year:

2006

Language:

english

File:

PDF, 171 KB

english, 2006

37

The Childhood Limb-Girdle Muscular Dystrophies

Volker Straub, Kate Bushby

Journal:

Seminars in Pediatric Neurology

Year:

2006

Language:

english

File:

PDF, 447 KB

english, 2006

38

Management of Duchenne Muscular Dystrophy in the Community: Views of Physiotherapists, GPs and School Teachers

Rachel Heap, Michelle Mander, John Bond, Kate Bushby

Journal:

Physiotherapy (Elsevier Science)

Year:

1996

Language:

english

File:

PDF, 869 KB

english, 1996

39

Neuromuscular diseases: milestones in development of treatments

Journal:

The Lancet Neurology

Year:

2011

Language:

english

File:

PDF, 285 KB

english, 2011

40

The limb-girdle muscular dystrophies

Journal:

European Journal of Paediatric Neurology

Year:

2001

Language:

english

File:

PDF, 65 KB

english, 2001

41

The limb-girdle muscular dystrophies

Journal:

European Journal of Paediatric Neurology

Year:

2002

Language:

english

File:

PDF, 25 KB

english, 2002

42

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

43

Aup1, a Novel Gene on Mouse Chromosome 6 and Human Chromosome 2p13

Wonhee Jang, John S. Weber, Rumaisa Bashir, Kate Bushby, Miriam H. Meisler

Journal:

Year:

1996

Language:

english

File:

PDF, 113 KB

english, 1996

44

The Third Human FER-1-like Protein Is Highly Similar to Dysferlin

Stephen Britton, Tom Freeman, Elizabeth Vafiadaki, Sharon Keers, Ruth Harrison, Kate Bushby, Rumaisa Bashir

Journal:

Year:

2000

Language:

english

File:

PDF, 424 KB

english, 2000

45

Long-Term Blocking of Calcium Channels in mdx Mice Results in Differential Effects on Heart and Skeletal Muscle

Louise H. Jørgensen, Alison Blain, Elizabeth Greally, Steve H. Laval, Andrew M. Blamire, Benjamin J. Davison, Heinrich Brinkmeier, Guy A. MacGowan, Henrik D. Schrøder, Kate Bushby, Volker Straub, Hann

Journal:

The American Journal of Pathology

Year:

2011

Language:

english

File:

PDF, 1.24 MB

english, 2011

46

The limb-girdle muscular dystrophies—Diagnostic strategies

Kate Bushby, Fiona Norwood, Volker Straub

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2007

Language:

english

File:

PDF, 426 KB

english, 2007

47

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

48

Recent advances in paediatric muscular dystrophies

Journal:

Current Paediatrics

Year:

2004

Language:

english

File:

PDF, 281 KB

english, 2004

49

117th ENMC Workshop: Ventilatory Support in Congenital Neuromuscular Disorders — Congenital Myopathies, Congenital Muscular Dystrophies, Congenital Myotonic Dystrophy and SMA (II) 4–6 April 2003, Naarden, The Netherlands

Carina Wallgren-Pettersson, Kate Bushby, Uwe Mellies, Anita Simonds

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 174 KB

english, 2004

50

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

Eugenio Mercuri, Kate Bushby, Enzo Ricci, Daniel Birchall, Marika Pane, Maria Kinali, Joanna Allsop, Vincenzo Nigro, Amets Sáenz, Annachiara Nascimbeni, Luigi Fulizio, Corrado Angelini, Francesco Munt

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 287 KB

english, 2005