Rachael Mein

Rachael Mein

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Rachael Mein

Rachael Mein

Publications by authors named "Rachael Mein"

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15Publications

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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

Autopsy findings in EPG5-related Vici syndrome with antenatal onset.

Am J Med Genet A 2017 Sep 27;173(9):2522-2527. Epub 2017 Jul 27.

Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.38342DOI Listing
September 2017

Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene.

J Clin Neurosci 2015 Dec 4;22(12):1983-5. Epub 2015 Aug 4.

Diagnostic Genetics, LabPLUS, Auckland, New Zealand.

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http://dx.doi.org/10.1016/j.jocn.2015.04.016DOI Listing
December 2015

The genetic diversity of cystinuria in a UK population of patients.

BJU Int 2015 Jul 12;116(1):109-16. Epub 2015 Mar 12.

The Urology Centre, Guys and St. Thomas' NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1111/bju.12894DOI Listing
July 2015

RYR1-related malignant hyperthermia with marked cerebellar involvement - a paradigm of heat-induced CNS injury?

Neuromuscul Disord 2015 Feb 31;25(2):138-40. Epub 2014 Oct 31.

Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK; Randall Division of Cell and Molecular Biophysics, Muscle Signalling Section, King's College, London, UK; Department of Clinical and Basic Neuroscience, IoPPN, King's College, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.10.008DOI Listing
February 2015

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