Publications by authors named "Grace McMacken"

13Publications

A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.

Neuromuscul Disord 2020 08 24;30(8):661-668. Epub 2020 Jun 24.

Wellcome Centre for Mitochondrial Research, The Medical School, Newcastle University, Newcastle upon Tyne, UK; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne, UK; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1016/j.nmd.2020.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477489PMC
August 2020

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.

J Neurol 2020 Dec 12;267(12):3643-3649. Epub 2020 Jul 12.

Department of Clinical Neurosciences, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge, UK.

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http://dx.doi.org/10.1007/s00415-020-10059-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7674332PMC
December 2020

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes.

Hum Mol Genet 2018 05;27(9):1556-1564

Institute of Genetic Medicine, The John Walton Muscular Dystrophy Research Centre, Newcastle University, International Centre for Life, Newcastle Upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1093/hmg/ddy062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5905648PMC
May 2018

Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.

J Neurol 2018 Jan 30;265(1):194-203. Epub 2017 Nov 30.

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1007/s00415-017-8689-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760613PMC
January 2018

A multi-source approach to determine SMA incidence and research ready population.

J Neurol 2017 Jul 20;264(7):1465-1473. Epub 2017 Jun 20.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1007/s00415-017-8549-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502065PMC
July 2017

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy.

J Neurol 2017 Jun 26;264(6):1271-1280. Epub 2017 May 26.

John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK.

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http://dx.doi.org/10.1007/s00415-017-8525-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5486574PMC
June 2017

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes.

Neuropediatrics 2017 08 15;48(4):294-308. Epub 2017 May 15.

The John Walton Muscular Dystrophy Centre, Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom.

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http://dx.doi.org/10.1055/s-0037-1602832DOI Listing
August 2017

When ischaemia is not ischaemia.

Br J Hosp Med (Lond) 2014 Dec;75(12):714-5

Senior House Officer in Neurology in the Department of Neurology, Royal Victoria Hospital, Belfast BT12 6BA.

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http://dx.doi.org/10.12968/hmed.2014.75.12.714DOI Listing
December 2014