Publications by authors named "Cheryl Longman"

42 Publications

A DM1 patient with CCG variant repeats: Reaching the diagnosis.

Neuromuscul Disord 2020 Dec 24. Epub 2020 Dec 24.

Neurology Department, Institute of Neurological Sciences, Queen Elizabeth University Hospital, 1345, Govan Road, Glasgow G51 4TF, United Kingdom. Electronic address:

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December 2020

Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis.

BMJ Case Rep 2020 Dec 22;13(12). Epub 2020 Dec 22.

Neurology, NHS Glasgow and Clyde South Glasgow University Hospitals NHS Trust, Glasgow, UK.

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December 2020

ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.

Neuromuscul Disord 2018 09 30;28(9):741-749. Epub 2018 Jun 30.

Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. Electronic address:

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September 2018

A de-novo deletion of dystrophin provoking severe 'peri-partum cardiomyopathy': The importance of genetic testing in peripartum cardiomyopathy to uncover female carriers.

Int J Cardiol 2016 Jan 31;203:1084-5. Epub 2015 Oct 31.

University Hospital Aintree, Liverpool, UK; Liverpool Heart and Chest Hospital, Liverpool, UK; University of Liverpool, Liverpool, UK. Electronic address:

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January 2016

Growing up with spinal muscular atrophy with respiratory distress (SMARD1).

Neuromuscul Disord 2015 Feb 22;25(2):169-71. Epub 2014 Oct 22.

Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, United Kingdom.

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February 2015

Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?

Clin Genet 2013 Feb 9;83(2):187-90. Epub 2012 Apr 9.

North Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, UK.

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February 2013