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Cardiac involvement in female carriers of duchenne or becker muscular dystrophy

Muscle & nerve, 2017-06, Vol.55 (6), p.810-818

2017

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Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

Journal of cell science, 2016-04, Vol.129 (8), p.1671-1684

2016

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State-Of-The-Art Advances in Duchenne Muscular Dystrophy

European Medical Journal (Chelmsford, England), 2017-03, Vol.2 (1), p.90-99

2017

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THE 6-minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study

Muscle & nerve, 2013-09, Vol.48 (3), p.343-356

2013

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The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: Reliability, concurrent validity, and minimal clinically important differences from a multicenter study

Muscle & nerve, 2013-09, Vol.48 (3), p.357-368

2013

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Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

JAMA neurology, 2014-01, Vol.71 (1), p.32

2014

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Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

Brain (London, England : 1878), 2011-12, Vol.134 (12), p.3544-3556

2011

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Identification of putativein vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice

Proteomics (Weinheim), 2006-11, Vol.6 (22), p.6075-6084

2006

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

Neuromuscular disorders : NMD, 2010-04, Vol.20 (4), p.241-250

2010

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European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

Journal of neuromuscular diseases, 2016-11, Vol.3 (4), p.517-527

2016

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Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

Neuromuscular disorders : NMD, 2001, Vol.11 (1), p.80-87

2001

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Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen

Human gene therapy. Part B. Methods, 2012-10, Vol.23 (5), p.336-345

2012

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Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice

Proteomics (Weinheim), 2006-11, Vol.6 (22), p.6075-6084

2006

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RESPIRATORY RECOMMENDATIONS FROM THE CENTERS FOR DISEASE CONTROL AND PREVENTION (CDC) CARE CONSIDERATIONS INITIATIVE ON DUCHENNE MUSCULAR DYSTROPHY

Chest, 2009-10, Vol.136 (4), p.63S-63S

2009

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Muscular Dystrophy: New Opportunities for Diagnosis and Treatment

Journal of child neurology, 2010-09, Vol.25 (9), p.1080-1097

2010

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Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease

Human molecular genetics, 2002-08, Vol.11 (17), p.2061-2075

2002

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CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND)

Neuroreport, 1997-12, Vol.8 (18), p.3923-3927

1997

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Neuromuscular Disorders: Clinical and Molecular Genetics

Journal of Medical Genetics, 1998, Vol.35 (9), p.792-792

Bushby, Katherine

1998

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Diagnostic approach to the congenital muscular dystrophies

Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.289-311

2014

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Study protocol: Our Cultures Count, the Mayi Kuwayu Study, a national longitudinal study of Aboriginal and Torres Strait Islander wellbeing

BMJ open, 2018-06, Vol.8 (6), p.e023861-e023861

2018

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Adult care for Duchenne muscular dystrophy in the UK

Journal of neurology, 2015-03, Vol.262 (3), p.629-641

2015

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Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy

Journal of comparative effectiveness research, 2021-12, Vol.10 (18), p.1337-1347

2021

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Responsiveness of the EQ-5D to HADS-identified anxiety and depression

Journal of evaluation in clinical practice, 2009-10, Vol.15 (5), p.820-825

Whynes, David K.

2009

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Management of low-grade cervical abnormalities detected at screening: which method do women prefer?

Cytopathology (Oxford), 2008-12, Vol.19 (6), p.355-362

2008

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Cardiac involvement in female carriers of duchenne or becker muscular dystrophy

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

State-Of-The-Art Advances in Duchenne Muscular Dystrophy

THE 6-minute walk test and other endpoints in Duchenne muscular dystrophy: Longitudinal natural history observations over 48 weeks from a multicenter study

The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: Reliability, concurrent validity, and minimal clinically important differences from a multicenter study

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

Identification of putativein vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice

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

European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies

Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen

Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice

RESPIRATORY RECOMMENDATIONS FROM THE CENTERS FOR DISEASE CONTROL AND PREVENTION (CDC) CARE CONSIDERATIONS INITIATIVE ON DUCHENNE MUSCULAR DYSTROPHY

Muscular Dystrophy: New Opportunities for Diagnosis and Treatment

Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease

CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND)

Neuromuscular Disorders: Clinical and Molecular Genetics

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

Diagnostic approach to the congenital muscular dystrophies

Study protocol: Our Cultures Count, the Mayi Kuwayu Study, a national longitudinal study of Aboriginal and Torres Strait Islander wellbeing

Adult care for Duchenne muscular dystrophy in the UK

Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy

Responsiveness of the EQ-5D to HADS-identified anxiety and depression

Management of low-grade cervical abnormalities detected at screening: which method do women prefer?

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