Staff Profile
Professor Michela Guglieri
Professor of Neuromuscular Disorders
- Telephone: +44 (0) 191 241 8606
- Address: Translational and Clinical Research
Newcastle University
International Centre for Life
Central Parkway
Newcastle upon Tyne
NE1 3BZ
Publications
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Articles
- Hoskens J, Schiava M, Goemens N, Feys H, McDermott MP, Martens WB, Mayhew A, Griggs RC, Klingels J, Guglieri M. Reference curves of motor function outcomes in young steroid-naïve males with Duchenne muscular dystrophy. Developmental Medicine & Child Neurology 2024, 66(5), 644-653.
- Phung K, Crabtree N, Connolly AM, Furlong P, Hoffman EP, Jackowski SA, Jayash SN, Johnson A, Koujok K, Munns CF, Niks E, Rauch F, Schrader R, Turner C, Vroom E, Weber DR, Wong BL, Guglieri M, Ward LM, Wong SC. Moving Beyond the 2018 Minimum International Care Considerations for Osteoporosis Management in Duchenne Muscular Dystrophy (DMD): Meeting Report from the 3rd International Muscle-Bone Interactions Meeting 7th and 14th November 2022. Journal of Neuromuscular Diseases 2024, 11(1), 233-252.
- Pinol-Jurado P, Verdu-Diaz J, Fernandez-Simon E, Dominguez-Gonzalez C, Hernandez-Lain A, Lawless C, Vincent A, Gonzalez-Chamorro A, Villalobos E, Monceau A, Laidler Z, Mehra P, Clark J, Filby A, McDonald D, Rushton P, Bowey A, Alonso Perez J, Tasca G, Marini-Bettolo C, Guglieri M, Straub V, Suarez-Calvet X, Diaz-Manera J. Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration. Scientific Reports 2024, 14(1), 3365.
- Schiava M, Lofra RM, Bourke JP, Diaz-Manera J, James MK, Elseed MA, Malinova M, Michel-Sodhi J, Moat D, Ghimenton E, Mccallum M, Diaz CFB, Mayhew A, Wong K, Richardson M, Tasca G, Eglon G, Eagle M, Turner C, Heslop E, Straub V, Bettolo CM, Guglieri M. Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids. European Journal of Neurology 2024, 31(6), e16267.
- Clemens PR, Gordish-Dressman H, Niizawa G, Gorni K, Guglieri M, Connolly AM, Wicklund M, Bertorini T, Mah J, Thangarajh M, Smith EC, Kuntz NL, McDonald CM, Henricson E, Upadhyayula S, Byrne B, Manousakis G, Harper A, Iannaccone S, Dang UJ. Findings from the Longitudinal CINRG Becker Natural History Study. Journal of Neuromuscular Diseases 2024, 11(1), 201-212.
- Schiava M, McDermott MP, Broomfield J, Abrams KR, Mayhew AG, McDonald CM, Martens WB, Gregory SJ, Griggs RC, Guglieri M. Factors Associated With Early Motor Function Trajectories in DMD After Glucocorticoid Initiation: Post Hoc Analysis of the FOR-DMD Trial. Neurology 2024, 102(10), e209206.
- Dang UJ, Damsker J, Guglieri M, Clemens PR, Perlman SJ, Smith EC, Horrocks I, Finkel RS, Mah JK, Deconinck N, Goemans NM, Haberlova J, Straub V, Mengle-Gaw L, Schwartz BD, Harper A, Shieh PB, De Waele L, Castro D, Yang ML, Ryan MM, McDonald CM, Tulinius M, Webster RI, Mcmillan HJ, Kuntz N, Rao VK, Baranello G, Spinty S, Childs AM, Sbrocchi AM, Selby KA, Monduy M, Nevo Y, Vilchez JJ, Nascimento-Osorio A, Niks EH, De Groot IJM, Katsalouli M, Van Den Anker JN, Ward LM, Leinonen M, D'Alessandro AL, Hoffman EP. Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy; A Randomized Controlled Trial. Neurology 2024, 102(5).
- Schiava M, Muni Lofra R, Bourke JP, James MK, Díaz-Manera J, Elseed MA, Michel-Sodhi J, Moat D, Mccallum M, Mayhew A, Ghimenton E, Díaz CFB, Malinova M, Wong K, Richardson M, Tasca G, Grover E, Robinson EJ, Tanner S, Eglon G, Behar L, Eagle M, Turner C, Verdú-Díaz J, Heslop E, Straub V, Marini Bettolo C, Guglieri M. Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy. Neuromuscular Disorders 2024, 41, 8-19.
- Broomfield J, Hill M, Chandler F, Crowther MJ, Godfrey J, Guglieri M, Hastie J, Larkindale J, Mumby-Croft J, Reuben E, Woodcock F, Abrams KR. Developing a Natural History Model for Duchenne Muscular Dystropgy. Pharmacoecon Open 2024, 8(1), 79-89.
- Salman D, Bolano-Diaz C, Muni-Lofra R, Wong K, Elseed M, Harris E, Diaz-Manera J, Guglieri M, Marini-Bettolo C, Straub V, Tasca G. Axial involvement as a prominent feature in SMPX-related distal myopathy. Neuromuscular Disorders 2024, 39, 3-4.
- Li X, Sabbatini D, Pegoraro E, Bello L, Clemens P, Guglieri M, van den Anker J, Damsker J, McCall J, Dang UJ, Hoffman EP, Jusko WJ. Assessing Pharmacogenomic loci Associated with the Pharmacokinetics of Vamorolone in Boys with Duchenne Muscular Dystrophy. The Journal of Clinical Pharmacology 2024, 64(9), 1130-1140.
- Anthony K, Ala P, Catapano F, Meng J, Domingos J, Perry M, Ricotti V, Maresh K, Phillips LC, Servais L, Seferian AM, De Lucia S, de Groot I, Krom YD, Verschuuren JGM, Niks EH, Straub V, Guglieri M, Voit T, Morgan J, Muntoni F. T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy. Human Gene Therapy 2023, 34(9-10), 439-448.
- Broomfield J, Abrams K, Latimer N, Guglieri M, Rutherford M, Crowther M. Natural History of Duchenne muscular dystrophy in the United Kingdom: A descriptive study using the Clinical Practice Research Datalink. Brain and Behavior 2023, 13(12), e3331.
- 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.
- Esteller D, Morrow J, Alonso-Perez J, Reyes D, Carbayo A, Bisogni G, Cateruccia M, Monforte M, Tasca G, Alangary A, Marini-Bettolo C, Sabatelli M, Laura M, Ramdharry G, Bolano-Diaz C, Turon-Sans J, Topf A, Guglieri M, Rossor AM, Olive M, Bertini E, Straub V, Reilly MM, Rojas-Garcia R, Diaz-Manera J. Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis. Neuromuscular Disorders 2023, 33(10), 744-753.
- Wood CL, Hollingsworth KG, Bokaie E, Hughes E, Muni-Lofra R, Mayhew A, Mitchell RT, Guglieri M, McElvaney J, Cheetham TD, Straub V. Is ongoing testosterone required after pubertal induction in Duchenne muscular dystrophy?. Endocrine Connections 2023, 12(12), e230245.
- Muntoni F, Signorovitch J, Sajeev G, Lane H, Jenkins M, Dieye I, Ward SJ, Mcdonald C, Goemans N, Niks EH, Wong B, Servais L, Straub V, Guglieri M, De Groot IJM, Chesshyre M, Tian C, Manzur AY, Mercuri E, Aartsma-Rus A. DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials. Neurology 2023, 100(15), E1540-E1554.
- Suarez-Calvet X, Fernandez-Simon E, Natera D, Jou C, Pinol-Jurado P, Villalobos E, Ortez C, Monceau A, Schiava M, Codina A, Verdu-Diaz J, Clark J, Laidler Z, Mehra P, Gokul-Nath R, Alonso-Perez J, Marini-Bettolo C, Tasca G, Straub V, Guglieri M, Nascimento A, Diaz-Manera J. Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations. Cell Death and Disease 2023, 14(9), 596.
- Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles R-N, Dibowski B, Venturelli N, Laforet P, Alonso-Perez J, Olive M, Dominguez-Gonzalez C, Paradas C, Velez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pal E, Malfatti E, Souvannanorath S, Alonso-Jimenez A, de Ridder W, De Smet E, Papadimas G, Xirou S, Papadopoulos C, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernandez-Torron R, Lopez de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Diaz J, Ikenaga C, Lloyd TE, Nishimori Y, Nishino I, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Straub V, Sasaki R, Marini-Bettolo C, Guglieri M, Stojkovic T, Carlier RY, Diaz-Manera J. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis. Journal of Neurology 2023, 270, 5849-5865.
- Sherlock SP, Palmer J, Wagner KR, Abdel-Hamid HZ, Bertini E, Tian C, Mah JK, Kostera-Pruszczyk A, Muntoni F, Guglieri M, Brandsema JF, Mercuri E, Butterfield RJ, McDonald CM, Charnas L, Marraffino S. Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab. Journal of Neurology 2022, 269, 4421-4435.
- Muntoni F, Guglieri M, Mah JK, Wagner KR, Brandsema JF, Butterfield RJ, McDonald CM, Mayhew AG, Palmer JP, Marraffino S, Charnas L, Mercuri E. Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial. PLoS ONE 2022, 17(8), e0272858.
- Servais L, Mercuri E, Straub V, Guglieri M, Seferian AM, Scoto M, Leone D, Koenig E, Khan N, Dugar A, Wang X, Han B, Wang D, Muntoni F. Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial. Nucleic acid therapeutics 2022, 32(1), 29-39.
- Folland C, Johnsen R, Botero Gomez A, Trajanoski D, Davis MR, Moore U, Straub V, Barresi R, Guglieri M, Hayhurst H, Schaefer AM, Laing NG, Lamont PJ, Ravenscroft G. Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy. Neuropathology and Applied Neurobiology 2022, 48(7), e12846.
- Mayhew AG, Moat D, McDermott MP, Eagle M, Griggs RC, King WM, James MK, Muni-Lofra R, Shillington A, Gregson S, Pallant L, Skura C, Staudt LA, Eichinger K, McMurchie H, Rabb R, Di Marco M, Brown S, Zanin R, Arnoldi MT, McIntyre M, Wilson A, Alfano LN, Lowes LP, Blomgren C, Milev E, Iodice M, Pasternak A, Chiu A, Lehnert I, Claus N, Dieruf KA, Rolle E, Nicorici A, Andres B, Hobbiebrunken E, Roetmann G, Kern V, Civitello M, Vogt S, Hayes MJ, Scholtes C, Lacroix C, Gunn T, Warner S, Newman J, Barp A, Kundrat K, Kovelman S, Powers PJ, Guglieri M. Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy. Neuromuscular Disorders 2022, 32(6), 460-467.
- Guglieri M, Clemens PR, Perlman SJ, Smith EC, Horrocks I, Finkel RS, Mah JK, Deconinck N, Goemans N, Haberlova J, Straub V, Mengle-Gaw LJ, Schwartz BD, Harper AD, Shieh PB, De Waele L, Castro D, Yang ML, Ryan MM, McDonald CM, Tulinius M, Webster R, McMillan HJ, Kuntz NL, Rao VK, Baranello G, Spinty S, Childs A-M, Sbrocchi AM, Selby KA, Monduy M, Nevo Y, Vilchez-Padilla JJ, Nascimento-Osorio A, Niks EH, De Groot IJM, Katsalouli M, James MK, Van Den Anker J, Damsker JM, Ahmet A, Ward LM, Jaros M, Shale P, Dang UJ, Hoffman EP. Efficacy and Safety of Vamorolone vs Placebo and Prednisone among Boys with Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA Neurology 2022, 79(10), 1005-1014.
- Mah JK, Clemens PR, Guglieri M, Smith EC, Finkel RS, Tulinius M, Nevo Y, Ryan MM, Webster R, Castro D, Kuntz NL, McDonald CM, Damsker JM, Schwartz BD, Mengle-Gaw LJ, Jackowski S, Stimpson G, Ridout DA, Ayyar-Gupta V, Baranello G, Manzur AY, Muntoni F, Gordish-Dressman H, Leinonen M, Ward LM, Hoffman EP, Dang UJ. Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial. JAMA network open 2022, 5(1), e2144178.
- Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Speed C, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Griggs RC, Straub V, van Ruiten H, Childs A-M, Ciafaloni E, Shieh PB, Spinty S, Maggi L, Baranello G, Butterfield RJ, Horrocks IA, Roper H, Alhaswani Z, Flanigan KM, Kuntz NL, Manzur A, Darras BT, Kang PB, Morrison L, Krzesniak-Swinarska M, Mah JK, Mongini TE, Ricci F, von der Hagen M, Finkel RS, O'Reardon K, Wicklund M, Kumar A, McDonald CM, Han JJ, Joyce N, Henricson EK, Schara-Schmidt U, Gangfuss A, Wilichowski E, Barohn RJ, Statland JM, Campbell C, Vita G, Vita GL, Howard JF, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA 2022, 327(15), 1456-1468.
- Sherlock SP, Palmer J, Wagner KR, Abdel-Hamid HZ, Tian C, Mah JK, Muntoni F, Guglieri M, Butterfield RJ, Charnas L, Marraffino S. Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy. Scientific Reports 2022, 12(1), 18762.
- Schiava M, Amos R, VanRuiten H, McDermott MP, Martens WB, Gregory S, Mayhew A, McColl E, Tawil R, Willis T, Bushby K, Griggs RC, Guglieri M, FOR-DMD Investigators of the Muscle Study Group. Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy. Neurology 2022, 98(4), e390-e401.
- Bourke J, Turner C, Bradlow W, Chikermane A, Coats C, Fenton M, Ilina M, Johnson A, Kapetanakis S, Kuhwald L, Morley-Davies A, Quinlivan R, Savvatis K, Schiava M, Yousef Z, Guglieri M. Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations. Open Heart 2022, 9(2), e001977.
- Moore U, Fernandez-Torron R, Jacobs M, Gordish-Dressman H, Diaz-Manera J, James MK, Mayhew AG, Harris E, Guglieri M, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Bourke J, Straub V. Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study. Muscle & Nerve 2022, 65(5), 531-540.
- Mayhew AG, James MK, Moore U, Sutherland H, Jacobs M, Feng J, Lowes LP, Alfano LN, Muni Lofra R, Rufibach LE, Rose K, Duong T, Bello L, Pedrosa-Hernandez I, Holsten S, Sakamoto C, Canal A, Sanchez-Aguilera Praxedes N, Thiele S, Siener C, Vandevelde B, DeWolf B, Maron E, Gordish-Dressman H, Hilsden H, Guglieri M, Hogrel J-Y, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Diaz-Manera J, Pegoraro E, Mendell JR, Jain COS Consortium, Straub V. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach. Frontiers in Neurology 2022, 13, 828525.
- Jacobs MB, James MK, Lowes LP, Alfano LN, Eagle M, Muni Lofra R, Moore U, Feng J, Rufibach LE, Rose K, Duong T, Bello L, Pedrosa-Hernandez I, Holsten S, Sakamoto C, Canal A, Praxedes Sanchez-Aguilera N, Thiele S, Siener C, Vandevelde B, DeWolf B, Maron E, Guglieri M, Hogrel JY, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Diaz-Manera J, Pegoraro E, Mendell JR, The JAIN COS Consortium, Mayhew AG, Straub V. Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale. Annals of Neurology 2022, 89(5), 967-978.
- Wood CL, Page J, Foggin J, Guglieri M, Straub V, Cheetham TD. The impact of testosterone therapy on quality of life in adolescents with Duchenne muscular dystrophy. Neuromuscular Disorders 2021, 31(12), 1259-1265.
- Scaglioni D, Catapano F, Ellis M, Torelli S, Chambers D, Feng L, Beck M, Sewry C, Monforte M, Harriman S, Koenig E, Malhotra J, Popplewell L, Guglieri M, Straub V, Mercuri E, Servais L, Phadke R, Morgan J, Muntoni F. The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy. Acta Neuropathologica Communications 2021, 9(1).
- Wood CL, Hollingsworth KG, Hughes E, Punniyakodi S, Muni-Lofra R, Mayhew A, Mitchell RT, Guglieri M, Cheetham TD, Straub V. Pubertal induction in adolescents with DMD is associated with high satisfaction, gonadotropin release and increased muscle contractile surface area. European Journal of Endocrinology 2021, 184(1), 67-79.
- Bourke JP, Watson G, Spinty S, Bryant A, Roper H, Chadwick T, Wood R, Mccoll E, Bushby K, Muntoni F, Guglieri M. Preventing Cardiomyopathy in DMD. Neurology: Clinical Practice 2021, 11(5), E661-E668.
- Moore U, Gordish H, Diaz-Manera J, James MK, Mayhew AG, Guglieri M, Fernandez-Torron R, Rufibach LE, Feng J, Blamire AM, Carlier PG, Spuler S, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Mori-Yoshimura M, Bravver E, Pegoraro E, Lowes LP, Mendell JR, Bushby K, Straub V. Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease. Neuromuscular Disorders 2021, 31(4), 265-280.
- Campbell C, McColl E, McDermott MP, Martens WB, Guglieri M, Griggs RC, Straub V, Childs A-M, Ciafaloni E, Shieh PB, Spinty S, Butterfield RJ, Horrocks I, Roper H, Maggi L, Baranello G, Flanigan KM, Kuntz NL, Manzur AY, Darras BT, Kang P, Mah JK, Mongini T, Ricci F, Morrison L, Krzesniak-Swinarska M, von der Hagen M, Finkel RS, Kumar A, Wicklund M, McDonald CM, Henricson EK, Schara-Schmidt U, Wilichowski E, Barohn RJ, Statland J, Kirschner J, Vita G, Vita GL, Howard JF, Hughes I, McMillan HJ, Pegoraro E, Bello L, Burnette WB, Thangarajh M, Chang T. Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy. Neuromuscular Disorders 2021, 31(11), 1161-1168.
- Heslop E, Turner C, Irvin A, Muntoni F, Straub V, Guglieri M. Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead. Neuromuscular Disorders 2021, 31(1), 69-78.
- Clemens PR, Niizawa G, Feng J, Florence J, D'Alessandro AS, Morgenroth LP, Gorni K, Guglieri M, Connolly A, Wicklund M, Bertorini T, Mah JK, Thangarajh M, Smith E, Kuntz N, McDonald CM, Henricson EK, Upadhyayula S, Byrne B, Manousakis G, Harper A, Bravver E, Iannaccone S, Spurney C, Cnaan A, Gordish-Dressman H. The CINRG Becker Natural History Study: Baseline Characteristics. Muscle & Nerve 2020, 62(3), 369-376.
- Wagner KR, Abdel-Hamid HZ, Mah JK, Campbell C, Guglieri M, Muntoni F, Takeshima Y, McDonald CM, Kostera-Pruszczyk A, Karachunski P, Butterfield RJ, Mercuri E, Fiorillo C, Bertini ES, Tian C, Statland J, Sadosky AB, Purohit VS, Sherlock SP, Palmer JP, Binks M, Charnas L, Marraffino S, Wong BL. Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy. Neuromuscular Disorders 2020, 30(6), 492-502.
- Alonso-Perez J, Gonzalez-Quereda L, Bello L, Guglieri M, Straub V, Gallano P, Semplicini C, Pegoraro E, Zangaro V, Nascimento A, Ortez C, Comi GP, Dam LT, de Visser M, van der Kooi AJ, Garrido C, Santos M, Schara U, Gangfuss A, Lokken N, Storgaard JH, Vissing J, Schoser B, Dekomien G, Udd B, Palmio J, D'Amico A, Politano L, Nigro V, Bruno C, Panicucci C, Sarkozy A, Abdel-Mannan O, Alonso-Jimenez A, Claeys KG, Gomez-Andres D, Munell F, Costa-Comellas L, Haberlova J, Rohlenova M, Elke DV, de Bleecker JL, Dominguez-Gonzalez C, Tasca G, Weiss C, Deconinck N, Fernandez-Torron R, de Munain AL, Camacho-Salas A, Melegh B, Hadzsiev K, Leonardis L, Koritnik B, Garibaldi M, de Leon-Hernandez JC, Malfatti E, Fraga-Bau A, Richard I, Illa I, Diaz-Manera J. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. Brain 2020, 143(9), 2696-2708.
- Heier CR, Zhang A, Nguyen NY, Tully CB, Panigrahi A, Gordish-Dressman H, Pandey SN, Guglieri M, Ryan MM, Clemens PR, Thangarajh M, Webster R, Smith EC, Connolly AM, McDonald CM, Karachunski P, Tulinius M, Harper A, Mah JK, Fiorillo AA, Chen Y-W. Multi-omics identifies circulating mirna and protein biomarkers for facioscapulohumeral dystrophy. Journal of Personalized Medicine 2020, 10(4), 236.
- Smith EC, Conklin LS, Hoffman EP, Clemens PR, Mah JK, Finkel RS, Guglieri M, Tulinius M, Nevo Y, Ryan MM, Webster R, Castro D, Kuntz NL, Kerchner L, Morgenroth LP, Arrieta A, Shimony M, Jaros M, Shale P, Gordish-Dressman H, Hagerty L, Dang UJ, Damsker JM, Schwartz BD, Mengle-Gaw LJ, McDonald CM. Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study. PLoS Medicine 2020, 17(9), e1003222.
- Wood CL, Cheetham TD, Hollingsworth KG, Guglieri M, Ailins-Sahun Y, Punniyakodi S, Mayhew A, Straub V. Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne muscular dystrophy. BMC Pediatrics 2019, 19(1), 131.
- Joseph S, Wang C, Bushby K, Guglieri M, Horrocks I, Straub V, Ahmed SF, Wong SC. Fractures and Linear Growth in a Nationwide Cohort of Boys with Duchenne Muscular Dystrophy With and Without Glucocorticoid Treatment: Results from the UK NorthStar Database. JAMA Neurology 2019, 76(6), 701-709.
- Muntoni F, Domingos J, Manzur AY, Mayhew A, Guglieri M, Sajeev G, Signorovitch J, Ward SJ. Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy. PLoS ONE 2019, 14(9), e0221097.
- Bourke JP, Watson G, Muntoni F, Spinty S, Roper H, Guglieri M, Speed C, McColl E, Chikermane A, Jayawant S, Adwani S, Willis T, Wilkinson J, Bryant A, Chadwick T, Wood R, Bushby K. Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol study. BMJ open 2018, 8(12), e022572-.
- Conklin LS, Damsker JM, Hoffman EP, Jusko WJ, Mavroudis PD, Schwartz BD, Mengle-Gaw LJ, Smith EC, Mah JK, Guglieri M, Nevo Y, Kuntz N, McDonald CM, Tulinius M, Ryan MM, Webster R, Castro D, Finkel RS, Smith AL, Morgenroth LP, Arrieta A, Shimony M, Jaros M, Shale P, McCall JM, Hathout Y, Nagaraju K, van den Anker J, Ward LM, Ahmet A, Cornish MR, Clemens PR. Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug. Pharmacological Research 2018, 136, 140-150.
- Mah JK, Feng J, Jacobs MB, Duong T, Carroll K, De Valle K, Carty CL, Morgenroth LP, Guglieri M, Ryan MM, Clemens PR, Thangarajh M, Webster R, Smith E, Connolly AM, McDonald CM, Karachunski P, Tulinius M, Harper A, Cnaan A, Chen Y-W. A multinational study on motor function in early-onset FSHD. Neurology 2018, 90(15), e1333-e1338.
- Harris E, Marini-Bettolo C, Topf A, Barresi R, Polvikovski T, Bailey G, Charlton R, Tellez J, MacArthur D, Guglieri M, Lochmuller H, Bushby K, Straub V. MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes. Neuromuscular Disorders 2018, 28(1), 48-53.
- Moreira S, Wood L, Smith D, Marini-Bettolo C, Guglieri M, McMacken G, Bailey G, Mayhew A, Muni-Lofra R, Eglon G, Williams M, Straub V, Lochmuller H, Evangelista T. Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy. Journal of Neurology 2017, 264(6), 1271-1280.
- Burch PM, Pogoryelova O, Palandra J, Goldstein R, Bennett D, Fitz L, Guglieri M, Bettolo CM, Straub V, Evangelista T, Neubert H, Lochmuller H, Morris C. Reduced serum myostatin concentrations associated with genetic muscle disease progression. Journal of Neurology 2017, 264(3), 541-553.
- DiPaolo G, Jimenez-Moreno C, Nikolenko N, Atalaia A, Monckton DG, Guglieri M, Lochmuller H. Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA). Journal of Neurology 2017, 264, 701-708.
- Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs A-M, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC. Developing standardized corticosteroid treatment for Duchenne muscular dystrophy. Contemporary Clinical Trials 2017, 58, 34-39.
- Mccaffrey T, Guglieri M, Murphy AP, Bushby K, Johnson A, Bourke JP. Cardiac involvement in female carriers of duchenne or becker muscular dystrophy. Muscle and Nerve 2017, 55(6), 810-818.
- Van Ruiten HJA, Marini Bettolo C, Cheetham T, Eagle M, Lochmuller H, Straub V, Bushby K, Guglieri M. Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England. European Journal of Paediatric Neurology 2016, 20(6), 904-909.
- Ricotti V, Ridout DA, Pane M, Main M, Mayhew A, Mercuri E, Manzur AY, Muntoni F, Robb S, Quinlivan R, Sarkozy A, Butler J, Bushby K, Straub V, Guglieri M, Eagle M, Roper H, McMurchie H, Childs A, Pysden K, Pallant L, Spinty S, Peachey G, Shillington A, Wraige E, Jungbluth H, Sheehan J, Spahr R, Hughes I, Bateman E, Cammiss C, Willis T, Groves L, Emery N, Baxter P, Senior M, Scott E, Hartley L, Parsons B, Majumdar A, Jenkins L, Toms B, Naismith K, Keddie A, Horrocks I, Di Marco M, Chow G, Miah A, De Goede C, Thomas N, Geary M, Palmer J, White C, Greenfield K, Wilson I. The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: Considerations for the design of clinical trials. Journal of Neurology, Neurosurgery and Psychiatry 2016, 87(2), 149-155.
- Landfeldt E, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, Bushby K. Quantifying the burden of caregiving in Duchenne muscular dystrophy. Journal of Neurology 2016, 263(5), 906-915.
- Srinivasan R, Rawlings D, Wood CL, Cheetham T, Moreno ACJ, Mayhew A, Eagle M, Guglieri M, Straub V, Owen C, Bushby K, Sarkozy A. Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy. Muscle & Nerve 2016, 54(1), 79-85.
- Lukacs Z, Cobos PN, Wenninger S, Willis TA, Guglieri M, Roberts M, Quinlivan R, Hilton-Jones D, Evangelista T, Zierz S, Schlotter-Weigel B, Walter MC, Reilich P, Klopstock T, Deschauer M, Straub V, Muller-Felber W, Schoser B. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology 2016, 87(3), 295-298.
- Evanelista T, Wood L, Fernandez-Torron R, Williams M, Smith D, Lunt P, Hudson J, Norwood F, Orrell R, Willis T, Hilton-Jones D, Refferty K, Guglieri Ml, Lochmuller H. Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry. Journal of Neurology 2016, 263(7), 1401-1408.
- Wood CL, Cheetham TD, Guglieri M, Bushby K, Owen C, Johnstone H, Straub V. Testosterone Treatment of Pubertal Delay in Duchenne Muscular Dystrophy. Neuropediatrics 2015, 46(6), 371-376.
- Burch PM, Pogoryelova O, Goldstein R, Bennett D, Guglieri M, Straub V, Bushby K, Lochmüller H, Morris C. Muscle-Derived Proteins as Serum Biomarkers for Monitoring Disease Progression in Three Forms of Muscular Dystrophy. Journal of Neuromuscular Diseases 2015, 2(3), 241-255.
- Landfeldt E, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, Bushby K. Health-Related Quality of Life in Patients with Duchenne Muscular Dystrophy: A Multi-National, Cross-Sectional Study. Developmental Medicine & Child Neurology 2015, 58(5), 508-515.
- Landfeldt E, Mayhew A, Eagle M, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, Bushby K. Development and Psychometric Analysis of the Duchenne Muscular Dystrophy Functional Ability Self-Assessment Tool (DMDSAT). Neuromuscular Disorders 2015, 25(12), 937-944.
- Landfeldt R, Lindgren P, Bell CF, Schmitt C, Guglieri M, Straub V, Lochmüller H, Bushby K. The burden of Duchenne muscular dystrophy: An international, cross-sectional study. Neurology 2014, 83(6), 529-536.
- Voit T, Topaloglu H, Straub V, Muntoni F, Deconinck N, Campion G, De Kimpe SJ, Eagle M, Guglieri M, Hood S, Liefaard L, Lourbakos A, Morgan A, Nakielny J, Quarcoo N, Ricotti V, Rolfe K, Servais L, Wardell C, Wilson R, Wright P, Kraus JE. Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study. The Lancet Neurology 2014, 13(10), 987-996.
- van Ruiten HJA, Straub V, Bushby K, Guglieri M. Improving recognition of Duchenne muscular dystrophy: a retrospective case note review. Archives of Disease in Childhood 2014, 99(12), 1074-1077.
- Martin FC, Hiller M, Spitali P, Oonk S, Dalebout H, Palmblad M, Chaouch A, Guglieri M, Straub V, Lochmuller H, Niks EH, Verschuuren JJGM, Aartsma-Rus A, Deelder AM, van der Burgt YEM, 't Hoen PAC. Fibronectin is a serum biomarker for Duchenne muscular dystrophy. Proteomics - Clinical Applications 2014, 8(3-4), 269-278.
- Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F. Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping. JAMA Neurology 2014, 71(1), 32-40.
- Garralda ME, McConachie H, Le Couteur A, Sriranjan S, Chakrabarti I, Cirak S, Guglieri M, Bushby K, Muntoni F. Emotional impact of genetic trials in progressive paediatric disorders: a dose-ranging exon-skipping trial in Duchenne muscular dystrophy. Child: Care, Health and Development 2013, 39(3), 449-455.
- Zaharieva IT, Calissano M, Scoto M, Preston M, Cirak S, Feng L, Collins J, Kole R, Guglieri M, Straub V, Bushby K, Ferlini A, Morgan JE, Muntoni F. Dystromirs as Serum Biomarkers for Monitoring the Disease Severity in Duchenne Muscular Dystrophy. PLoS One 2013, 8(11), e80263.
- Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Penisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Glaser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmuller H. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation. Human Mutation 2013, 34(8), 1111-1118.
- Dick E, Matsa E, Bispham J, Reza M, Guglieri M, Staniforth A, Watson S, Kumari R, Lochmuller H, Young L, Darling D, Denning C. Two new protocols to enhance the production and isolation of human induced pluripotent stem cell lines. Stem Cell Research 2011, 6(2), 158-167.
- Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, Abbs S, Garralda ME, Bourke J, Wells DJ, Dickson G, Wood MJ, Wilton SD, Straub V, Kole R, Shrewsbury SB, Sewry C, Morgan JE, Bushby K, Muntoni F. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. The Lancet 2011, 378(9791), 595-605.
- Anthony K, Cirak S, Torelli S, Tasca G, Feng L, Arechavala-Gomeza V, Armaroli A, Guglieri M, Straathof CS, Verschuuren JJ, Aartsma-Rus A, Helderman-van-den-Enden P, Bushby K, Straub V, Sewry C, Ferlini A, Ricci E, Morgan JE, Muntoni F. Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain 2011, 134(12), 3547-3559.
- Arechavala-Gomeza V, Kinali M, Feng L, Guglieri M, Edge G, Main M, Hunt D, Lehovsky J, Straub V, Bushby K, Sewry C, Morgan J, Muntoni F. Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials. Neuromuscular Disorders 2010, 20(5), 295-301.
- Clarke N, Waddell L, Cooper S, Perry M, Smith R, Kornberg A, Muntoni F, Lillis S, Straub V, Bushby K, Guglieri M, King M, Farrell M, Marty I, Lunardi J, Monnier N, North K. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Human Mutation 2010, 31(7), E1544-E1550.
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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.
- Bourke JP, Guglieri M, Duboc D, Aartsma-Rus A, Bandali A, Bennett N, Cools B, Cripe L, de Groot I, Dittrich S, Florian A, Furlong P, Goemans N, Hor K, van Leperen F, MacGowan G, McNally E, Pegoraro E, Politano L, Sediva M, Stara V, Timmermans J, Vroom E, Wahbi K. 238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018. In: Neuromuscular Disorders. 2019, Hoofddorp, The Netherlands: Elsevier Ltd.
- Domingos J, Eagle M, Moraux A, Butler J, Decostre V, Ridout D, Mayhew A, Selby V, Guglieri M, Van der Holst M, Jansen M, Verschuuren J, de Groot I, Niks E, Servais L, Hogrel J, Straub V, Voit T, Ricotti V, Muntoni F. Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials. In: 21st International Congress of the World Muscle Society. 2016, Granada: Elsevier.
- 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.
- Hudson J, Graham E, Charlton R, Guglieri M, Bushby K, Straub V, Barresi R. The importance of dosage analysis in dysferlinopathy. In: 20th International Congress of the World Muscle Society. 2015, Brighton, UK: Elsevier.
- McCaffrey T, Murphy A, Guglieri M, Bushby K, Bourke J. The frequency and characterisation of cardiac involvement in female carriers of BMD or DMD: A cross sectional analysis. In: 20th International Congress of The World Muscle Society. 2015, Brighton, UK: Pergamon Press.
- Guglieri M, Hart K, McColl E, Herr B, Martens W, Wilkinson J, Eagle M, King W, Brawn M, McDermott M, Tawil R, Hirtz D, Kirschner J, Griggs RC, Bushby K. Recruitment in the FOR-DMD study - double-blind randomized trial to optimize steroid regime in Duchenne Muscular Dystrophy (DMD). In: Muscle Study Group Meeting, Experimental Therapeutics Across the Spectrum of Neuromuscular Disease. 2015, Snowbird, Utah, USA: Wiley-Blackwell.
- Bettolo CM, van Ruiten H, Guglieri M, Eagle M, Straub V, Lochmuller H, Bushby K. Overview of morbidity, mortality and survival in Duchenne muscular dystrophy in the North East of England. In: 20th International Congress of the The World Muscle Society. 2015, Brighton, UK: Elsevier.
- Ricotti V, Eagle M, Butler J, Decostre V, Deborah R, Moraux A, Anthony K, Sleby V, Guglieri M, van der Holst M, Jansen M, Morgan J, de Groot I, Niks E, Verschuuren J, Servais L, Hogrel JY, Voit T, Straub V, Muntoni F. Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials. In: 20th International Congress of the World Muscle Society. 2015, Brighton, UK: Elsevier.
- Bonnemann C, Boutin M, Brais B, Buccella F, Burghes A, Coffey C, Dasgupta N, Dawkins H, De Luca A, Dowd C, Duong T, Eagle M, Finkel R, Furlong P, Gagnon C, Goemans N, Guglieri M, Hathout Y, Johnson N, Kakkis E, Kaufmann P, Kimmelman J, Korngut L, Kullman J, Lochmuller H, Marini S, McDonald C, Mohan C, Morgenroth L, Morizono H, Nagaraju K, Porter J, Reilly L, Ruegg M, Schneider J, Spitali P, Straub V, Sweeney L, Tasca G, Turner C, Veldhuizen O, Verschuuren J, Willmann R, Ward S, Ward S. Facilitating orphan drug development: Proceedings of the TREAT-NMD International Conference, December 2015, Washington, DC, USA. In: TREAT-NMD International Conference. 2015, Washington, DC: Elsevier Ltd.
- Davis R, Guglieri M, Hart K, McColl E, Herr B, Martens W, Wilkinson J, Eagle M, King W, Brawn M, McDermott M, Tawil R, Hirtz D, Kirschner J, Bushby K, Griggs RC. Anticipating and overcoming obstacles in setting up NIH funded academic led, international clinical trials in rare disease - learning from for DMD. In: Muscle Study Group Meeting: Experimental Therapeutics Across the Spectrum of Neuromuscular Disease. 2015, Snowbird, Utah, USA: Wiley-Blackwell.
- Sarkozy A, Srinivasan R, Rawlings D, Guglieri M, Owen C, Straub V, Cheetham T, Bushby K. Prophylactic oral bisphosphonate therapy in Duchenne muscular dystrophy: The Newcastle upon Tyne experience. In: 19th International Congress of the World Muscle Society. 2014, Berlin, Germany: Elsevier.
- Guglieri M, van Ruiten HJA, Straub V, Bushby K. Improving the diagnosis of Duchenne muscular dystrophy. In: 19th International Congress of The World Muscle Society. 2014, Berlin, Germany: Elsevier.
- Guglieri M, Sambuughin N, Sarkozy A, Barresi R, Lochmuller H, Bushby K, Goldfarb LG, Straub V. Autosomal recessive myofibrillar myopathy caused by ACTA1 mutations. In: 19th International Congress of the World Muscle Society. 2014, Berlin, Germany: Elsevier.
- Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Guglieri M, Harris E, Straub V, Bushby K, Lochmuller H. Clinical and molecular analysis of a large cohort of patients with anoctaminopathy. In: 18th International Congress of the World Muscle Society. 2013, California, USA: Elsevier.
- Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F. Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy. In: 17th International Congress of the World Muscle Society (WMS). 2012, Perth, Australia: Elsevier Ltd.
- Guglieri M, Smith J, Eagle M, Scott E, Griggs R, Bushby K. Body mass index (BMI) and growth in Duchenne Muscular Dystrophy (DMD). In: Neuromuscular Disorders: 16th International Congress of the World Muscle Society. 2011, Algarve, Portugal: Elsevier Ltd.
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Editorial
- Mayhew AG, Nelson L, Guglieri M, Willis T. Editorial: Lessons Learned from Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation. Frontiers in Genetics 2022, 13, 840074.
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Letter
- Figueroa-Bonaparte S, Hudson J, Barresi R, Polvikoski T, Williams T, Töpf A, Harris E, Hilton-Jones D, Petty R, Willis TA, Longman C, Dougan CF, Parton MJ, Hanna MG, Quinlivan R, Farrugia ME, Guglieri M, Bushby K, Straub V, Lochmüller H, Evangelista T. Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK. Journal of Neurology, Neurosurgery and Psychiatry 2016, 87(6), 680-681.
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Note
- Landfeldt E, Mayhew A, Eagle M, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmiiller H, Bushby K. Corrigendum to Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT) (vol 25, pg 937, 2015). Neuromuscular Disorders 2016, 26(4-5), 329-329.
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Reviews
- Childs AM, Turner C, Astin R, Bianchi S, Bourke J, Cunningham V, Edel L, Edwards C, Farrant P, Heraghty J, James M, Massey C, Messer B, Sodhi JM, Murphy PB, Schiava M, Thomas A, Trucco F, Guglieri M. Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice. Thorax 2024, 79(5), 476-485.
- Mercer V, Smith N, Jandial S, Guglieri M, Jones SA, Foster HE. Beyond pGALS: the need for a multifaceted musculoskeletal decision-making tool ('pGALSplus') in community-based clinical practice. Rheumatology Advances in Practice 2024, 8(1), rkae004.
- Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs A-M, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M. A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial. Trials 2018, 19(1), 291.
- Wood CL, Straub V, Guglieri M, Bushby K, Cheetham T. Short stature and pubertal delay in Duchenne muscular dystrophy. Archives of Disease in Childhood 2016, 101(1), 101-106.
- Guglieri M, Bushby K. Molecular treatments in Duchenne muscular dystrophy. Current Opinion in Pharmacology 2010, 10(3), 331-337.