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Richard Petty

Southern General Hospital

34

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796

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De novo repeat interruptions are associated with reduced somatic instability and mild or absent clinical features in myotonic dystrophy type 1

2018 European Journal of Human Genetics
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Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

2017 JAMA Neurology
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Elevated plasma levels of cardiac troponin-I predict left ventricular systolic dysfunction in patients with myotonic dystrophy type 1: A multicentre cohort follow-up study

2017 PLOS ONE
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LIMB GIRDLE SYNDROMES: MYASTHENIA OR MYOPATHY

2016 Journal of Neurology, Neurosurgery, and Psychiatry
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Clinical features of the myasthenic syndrome arising from mutations in GMPPB

2016 Journal of Neurology, Neurosurgery, and Psychiatry
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Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

2016 Journal of Neurology, Neurosurgery, and Psychiatry
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Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression

2015 Clinical Science
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Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

2015 Brain
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Two recurrent mutations are associated with GNE myopathy in the North of Britain

2014 Journal of Neurology, Neurosurgery, and Psychiatry
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Head drop syndrome secondary to multimodality treatments for head and neck cancer

2013 Laryngoscope
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Citations (4)