Staff Profile

Roles & Responsibilities

Internal Quality Assurance Manager for The Wellcome Centre for Mitochondrial Research (WCMR) Clinical Trials Laboratory and coordinator of the John Walton Muscular Dystrophy Research Centre Biobank (JWMDRC). HTA Person Designate (PD) for the JWMDRC Biobank and Centre for Life tissue collections.



ORCiD record

https://orcid.org/0000-0002-5405-6267

• Articles

  • Fernandez-Simon E, Pinol-Jurado P, Gokul-Nath R, Unsworth A, Alonso-Perez J, Schiava M, Nascimento A, Tasca G, Queen R, Cox D, Suarez-Calvet X, Diaz-Manera J. Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy. Frontiers in Cell and Developmental Biology 2024, 12, 1399319.
  • Topf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bonnemann CG, Cairns A, Chiew M-T, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg E-J, Lornage X, Loscher WN, Malfatti E, Manzur A, Marti P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature Genetics 2024, 56, 395–407.
  • Moore U, Fernández-Simón E, Schiava M, Cox D, Gordish-Dressman H, James MK, Mayhew A, Wilson I, Guglieri M, Rufibach L, Blamire A, Carlier PG, Mori-Yoshimura M, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Bravver E, Pegoraro E, Mendell JR, Bushby K, Diaz-Manera J, Straub V, The Jain COS Consortium. Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy. Neuromuscular Disorders 2023, 33(2), 199-207.
  • Riva B, Pessolano E, Quaglia E, Cordero-Sanchez C, Bhela I, Topf A, Serafini M, Cox D, Harris E, Garibaldi M, Barresi R, Pirali T, Genazzani A. STIM1 and ORAI1 mutations leading to tubular aggregate myopathies are sensitive to the Store-operated Ca2+-entry modulators CIC-37 and CIC-39. Cell Calcium 2022, 105, 102605.
  • White Z, Sun Z, Sauge E, Cox D, Donen G, Pechkovsky D, Straub V, Francis GA, Bernatchez P. Limb-girdle muscular dystrophy type 2B causes HDL-C abnormalities in patients and statin-resistant muscle wasting in dysferlin-deficient mice. Skeletal Muscle 2022, 12(1), 25.
  • Hathazi D, Cox D, D'Amico A, Tasca G, Charlton R, Carlier RY, Baumann J, Kollipara L, Zahedi RP, Feldmann I, Deleuze JF, Torella A, Cohn R, Robinson E, Ricci F, Jungbluth H, Fattori F, Boland A, O'Connor E, Horvath R, Barresi R, Lochmuller H, Urtizberea A, Jacquemont ML, Nelson I, Swan L, Bonne G, Roos A. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. Brain 2021, 144(8), 2427-2442.
  • Barthel BL, Cox D, Barbieri M, Ziemba M, Straub V, Hoffman EP, Russell AJ. Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy. Muscle and Nerve 2021, 64(1), 43-49.
  • Horn A, Raavicharla S, Shah S, Cox D, Jaiswal J. Mitochondrial fragmentation enables localized signaling required for cell repair. Journal of Cell Biology 2020, 219(5), e201909154.
  • White Z, Hakim CH, Theret M, Yang N, Rossi F, Cox D, Francis G, Straub V, Selby K, Panagiotopoulos C, Duan D, Bernatchez P. High prevalence of plasma lipid abnormalities in human and canine Duchenne and Becker muscular dystrophies depicts a new type of primary genetic dyslipidemia. Journal of Clinical Lipidology 2020, 14(4), 459-469.e0.
  • Phan V, Cox D, Cipriani S, Spendiff S, Buchkremer S, O'Connor E, Horvath R, Goebel HH, Hathazi D, Lochmuller H, Straka T, Rudolf R, Weis J, Roos A. SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human. Neurobiology of Disease 2019, 124, 218-229.
  • Cox D, Henderson M, Straub V, Barresi R. A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film. Neuromuscular Disorders 2019, 29(11), 874-880.
  • McMacken G, Cox D, Roos A, Müller J, Whittaker R, Lochmüller H. The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes. Human Molecular Genetics 2018, 27(9), 1556–1564.
  • Owen D, Topf A, Preethish-Kumar V, Lorenzoni PJ, Vroling B, Scola RH, Dias-Tosta E, Geraldo A, Polavarapu K, Nashi S, Cox D, Evangelista T, Dawson J, Thompson R, Senderek J, Laurie S, Beltran S, Gut M, Gut I, Nalini A, Lochmuller H. Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness. American Journal of Medical Genetics, Part A 2018, 176(7), 1594-1601.
  • O'Connor E, Phan V, Cordts I, Cairns G, Hettwer S, Cox D, Lochmüller H, Roos A. MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion. Human Molecular Genetics 2018, 27(8), 1434-1446.
  • O'Connor E, Topf A, Zahedi R, Spendiff S, Cox D, Roos A, Lochmuller H. Clinical and research strategies for limb-girdle congenital myasthenic syndromes. Annals of the New York Academy of Sciences 2018, 1412(15), 102-112.
  • Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Marini Bettolo C, Barresi R, Charlton R, Bonnemann CG, Abath Neto O, Reed UC, Zanoteli E, Araujo Martins Moreno C, Ertl-Wagner B, Stucka R, De Goede C, Borges da Silva T, Hathazi D, Dell'Aica M, Zahedi RP, Thiele S, Muller J, Kingston H, Muller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmuller H, Senderek J. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. American Journal of Human Genetics 2017, 100(3), 523-536.
  • Reza M, Cox D, Phillips L, Johnson D, Manoharan V, Grieves M, Davis B, Roos A, Morgan J, Hanna MG, Muntoni F, Lochmuller H. MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. Neuromuscular Disorders 2017, 27(11), 1054-1064.
  • O'Connor E, Topf A, Muller JS, Cox D, Evangelista T, Colomer J, Abicht A, Senderek J, Hasselmann O, Yaramis A, Laval SH, Lochmuller H. Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. Brain 2016, 139(8), 2143-2153.
  • Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, DeGrassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Muller JS, Evangelista T, Topf A, Abicht A, Huebner A, vonderHagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmuller H. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. Journal of Neuromuscular Diseases 2014, 1(1), 75-90.
  • Nicole S, Chaouch A, Torbergsen T, Bauche S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Loseth S, Issop Y, Cox D, Muller JS, Evangelista T, Stalberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantai D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmuller H. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. Brain 2014, 137(9), 2429-2443.

• Conference Proceedings (inc. Abstracts)

  • Galloway A, Cox D, Töpf A, Hilsden H, Guglieri M, Marini-Bettolo C, Díaz-Manera J, Straub V. The John Walton Muscular Dystrophy Research Centre Biobank. In: 16th UK Neuromuscular Translational Research Conference. 2023, London: IOS Press.
  • Roos A, Cox D, Reza M, Guglieri M, Straub V, Lochmuller H. MRC biobank Newcastle - A five-year review of the John Walton Muscular Dystrophy Research Centre experience. In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier.
  • Reza M, Johnson D, Cox D, Laval S, Chaouch A, Barresi R, Morgan J, Bushby K, Straub V, Muntoni F, Lochmuller H. MRC NMD Centre Biobank: An overview. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.