Publications by Daniel Cox - ePrints

Browsing publications by Daniel Cox.

Newcastle Authors	Title	Year
Dr Ana Topf Daniel Cox Dr Valeria Di Leo Professor Chiara Marini Bettolo Professor Jordi Diaz Manera et al.	Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy	2024
Esther Fernández-Simón Rasya Gokul Nath Adrienne Unsworth Dr Marianela Schiava Professor Giorgio Tasca et al.	Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy	2024
Dr Ursula Moore Esther Fernández-Simón Dr Marianela Schiava Daniel Cox Meredith James et al.	Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy	2023
Andrew Galloway Daniel Cox Dr Ana Topf Heather Hilsden Professor Michela Guglieri et al.	The John Walton Muscular Dystrophy Research Centre Biobank	2023
Daniel Cox Professor Volker Straub	Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice	2022
Dr Ana Topf Daniel Cox Dr Lizzie Harris	STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39	2022
Daniel Cox Professor Volker Straub	Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy	2021
Daniel Cox Professor Giorgio Tasca Dr Richard Charlton	INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH	2021
Daniel Cox Professor Volker Straub	High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemia	2020
Daniel Cox	Mitochondrial fragmentation enables localized signaling required for cell repair	2020
Daniel Cox Matt Henderson Professor Volker Straub Dr Rita Barresi	A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film	2019
Daniel Cox Silvia Cipriani Dr Sally Spendiff Emily O'Connor Professor Rita Horvath et al.	SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human	2019
Emily O'Connor Dr Ana Topf Dr Sally Spendiff Daniel Cox Dr Andreas Roos et al.	Clinical and research strategies for limb-girdle congenital myasthenic syndromes	2018
Emily O'Connor Dr Isabell Cordts George Cairns Daniel Cox Professor Hanns Lochmuller et al.	MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion	2018
Dr David Owen Dr Ana Topf Daniel Cox Dr Teresinha Evangelista John Dawson et al.	Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness	2018
Dr Grace McMacken Daniel Cox Dr Andreas Roos Professor Roger Whittaker Professor Hanns Lochmuller et al.	The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes	2018
Dr Mojgan Reza Daniel Cox Lauren Phillips Michael Grieves Rebecca Crow et al.	MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide	2017
Dr Andreas Roos Daniel Cox Professor Chiara Marini Bettolo Dr Rita Barresi Dr Richard Charlton et al.	Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment	2017
Emily O'Connor Dr Ana Topf Dr Juliane Mueller Daniel Cox Dr Teresinha Evangelista et al.	Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome	2016
Dr Andreas Roos Daniel Cox Dr Mojgan Reza Professor Michela Guglieri Professor Volker Straub et al.	MRC biobank Newcastle - A five-year review of the John Walton Muscular Dystrophy Research Centre experience	2016
Dr Amina Chaouch Yasmin Issop Daniel Cox Dr Juliane Mueller Dr Teresinha Evangelista et al.	Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy	2014
Dr Amina Chaouch Daniel Cox Dr Steven Laval Dr Helen Griffin Dr Teresinha Evangelista et al.	Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission	2014
Dr Mojgan Reza Daniel Cox Dr Steven Laval Dr Amina Chaouch Dr Rita Barresi et al.	MRC NMD Centre Biobank: An overview	2012