Cheryl Longman

Cheryl Longman

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Cheryl Longman

Cheryl Longman

Publications by authors named "Cheryl Longman"

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39Publications

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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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http://dx.doi.org/10.1016/j.nmd.2018.05.012DOI Listing
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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http://dx.doi.org/10.1016/j.ijcard.2015.10.239DOI Listing
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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https://linkinghub.elsevier.com/retrieve/pii/S09608966140066
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http://dx.doi.org/10.1016/j.nmd.2014.10.005DOI Listing
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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http://dx.doi.org/10.1111/j.1399-0004.2012.01876.xDOI Listing
February 2013

Cleft lip and palate with associated digital and cardiac anomalies: a new dominant orofacial clefting syndrome?

Clin Dysmorphol 2011 Apr;20(2):89-91

Ferguson Smith Centre for Clinical Genetics, Yorkhill Hospital, Glasgow, UK.

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http://dx.doi.org/10.1097/MCD.0b013e3283428f60DOI Listing
April 2011

Sudden death in a patient with mosaic ring X Turner syndrome and a neuronal migration disorder.

Clin Dysmorphol 2008 Jan;17(1):69-71

Department of Medical Genetics, St George's Hospital, Cranmer Terrace, London, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32823b007fDOI Listing
January 2008

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Arch Neurol 2008 Jan;65(1):137-41

Dubowitz Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial College London, Du Cane Road, London W12 ONN, England.

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http://dx.doi.org/10.1001/archneurol.2007.2DOI Listing
January 2008

Neonatal teeth in X-linked Opitz (G/BBB) syndrome.

Clin Dysmorphol 2006 Jul;15(3):185-6

Department of Clinical Genetics, Guy's Hospital, London, UK.

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http://dx.doi.org/10.1097/01.mcd.0000198931.09330.e8DOI Listing
July 2006

Congenital muscular dystrophy.

Pediatr Ann 2005 Jul;34(7):560-2, 564-8

Dubowitz Neuromuscular Centre, Hammersmith Hospital, London, England.

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http://dx.doi.org/10.3928/0090-4481-20050701-13DOI Listing
July 2005

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.

Hum Mol Genet 2005 Mar 20;14(5):657-65. Epub 2005 Jan 20.

Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Campus, Inperial College, London, UK.

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http://academic.oup.com/hmg/article/14/5/657/2355886/Localiz
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http://dx.doi.org/10.1093/hmg/ddi062DOI Listing
March 2005

Skeletal muscle involvement in infantile systemic hyalinosis.

Eur J Paediatr Neurol 2003 ;7(6):401-6

Department of Paediatrics, Dubowitz Neuromuscular Centre, Hammesmith Hospital, Imperial College London, London W12 0NN, UK.

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http://dx.doi.org/10.1016/s1090-3798(03)00109-0DOI Listing
February 2004

Muscle involvement in the cerebro-oculo-facio-skeletal syndrome.

Pediatr Neurol 2004 Feb;30(2):125-8

Dubowitz Neuromuscular Centre, Hammersmith Campus, Imperial College, London, W12 ONN, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940300415
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http://dx.doi.org/10.1016/S0887-8994(03)00415-6DOI Listing
February 2004

Craniosynostosis associated with intracranial calcification: a novel recessive syndrome.

Clin Dysmorphol 2003 Oct;12(4):215-20

Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, G3 8SJ.

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http://dx.doi.org/10.1097/00019605-200310000-00001DOI Listing
October 2003

Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome.

Clin Dysmorphol 2003 Apr;12(2):133-6

Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Glasgow, G3 8SJ UK.

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http://dx.doi.org/10.1097/00019605-200304000-00012DOI Listing
April 2003