Staff Profile
Dr Chiara Marini Bettolo
Honorary Clinical Senior Lecturer
Publications
- Doorenweerd N, de Rover M, Marini-Bettolo C, Hollingsworth KG, Niks EH, Hendriksen JGM, Kan HE, Straub V. Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patients. Brain Imaging and Behavior 2021, 15, 2297-2307.
- Lim AZ, McMacken G, Rastelli F, Olahova M, Baty K, Hopton S, Falkous G, Topf A, Lochmuller H, Marini-Bettolo C, McFarland R, Taylor RW. A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features. Neuromuscular Disorders 2020, 30(8), 661-668.
- Coratti G, Messina S, Lucibello S, Pera MC, Montes J, Pasternak A, Bovis F, Exposito Escudero J, Mazzone ES, Mayhew A, Glanzman AM, Young SD, Salazar R, Duong T, Muni Lofra R, De Sanctis R, Carnicella S, Milev E, Civitello M, Pane M, Scoto M, Marini Bettolo C, Antonaci L, Frongia A, Sframeli M, Vita GL, D'Amico A, Van Den Hauwe M, Albamonte E, Goemans N, Darras BT, Bertini E, Sansone V, Day J, Nascimento Osorio A, Bruno C, Muntoni F, De Vivo DC, Finkel RS, Mercuri E. Clinical Variability in Spinal Muscular Atrophy Type III. Annals of Neurology 2020, 88(6), 1109-1117.
- Giacomucci G, Monforte M, Diaz-Manera J, Mul K, Fernandez Torron R, Maggi L, Marini Bettolo C, Dahlqvist JR, Haberlova J, Camano P, Gros M, Tartaglione T, Cristiano L, Gerevini S, Calandra P, Deidda G, Giardina E, Sacconi S, Straub V, Vissing J, Van Engelen B, Ricci E, Tasca G. Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging. European Journal of Neurology 2020, 27(12), 2604-2615.
- Barp A, Laforet P, Bello L, Tasca G, Vissing J, Monforte M, Ricci E, Choumert A, Stojkovic T, Malfatti E, Pegoraro E, Semplicini C, Stramare R, Scheidegger O, Haberlova J, Straub V, Marini-Bettolo C, Lokken N, Diaz-Manera J, Urtizberea JA, Mercuri E, Kyncl M, Walter MC, Carlier RY. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A). Journal of Neurology 2020, 267(1), 45-56.
- Banerjiab CRS, Cammish P, Evangelista T, Zammita PS, Straub V, Marini-Bettolo C. Facioscapulohumeral muscular dystrophy 1 patients participating in the UK FSHD registry can be subdivided into 4 patterns of self-reported symptoms. Neuromuscular Disorders 2020, 30(4), 315-328.
- Johnson NE, Aldana EZ, Angeard N, Ashizawa T, Berggren KN, Marini-Bettolo C, Duong T, Ekstrom A-B, Sansone V, Tian C, Hellerstein L, Campbell C. Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1. Neurology: Clinical Practice 2019, 9(5), 443-454.
- Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nunez-Peralta C, Horlings CGC, Van Engelen BGM, Olive M, Gonzalez L, Verges-Gil E, Paradas C, Marquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum A-SV, Garcia-Sobrino T, Pardo J, Garcia-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martinez A, Marini-Bettolo C, Straub V, Gutierrez G, Martin MA, Moris G, Fernandez-Torron R, Lopez De Munain A, Cortes-Vicente E, Querol L, Rojas-Garcia R, Illa I, Diaz-Manera J. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy. Journal of Neurology, Neurosurgery and Psychiatry 2019, 90(5), 576-585.
- Higgs C, Hilbert JE, Wood L, Martens WB, Marini-Bettolo C, Nikolenko N, Alsaggaf R, Lochmuller H, Moxley RT, Greene MH, Wang Y, Gadalla SM. Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries. Frontiers in Neurology 2019, 10.
- Porter B, Cammish P, Orrell R, Heslop E, Marini-Bettolo C. The UK FSHD Patient Registry: A Key Tool in the Facilitation of Clinical Research. In: 12th UK Neuromuscular Translational Research Conference. 2019, Newcastle, UK.
- Porter B, Cammish P, Turner C, Heslop E, Marini-Bettolo C. The UK Myotonic Dystrophy Patient Registry: A Key Tool in the Facilitation of Clinical Research. In: 12th UK Neuromuscular Translational Research Conference. 2019, Newcastle, UK.
- 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.
- Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, Sewry C, Ala P, Yau M, Bertoli M, Willis T, Hammans S, Manzur A, Sframeli M, Norwood F, Rakowicz W, Radunovic A, Vaidya SS, Parton M, Walker M, Marino S, Offiah C, Farrugia ME, Mamutse G, Marini-Bettolo C, Wraige E, Beeson D, Lochmuller H, Straub V, Bushby K, Barresi R, Muntoni F. Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. Journal of Neurology, Neurosurgery and Psychiatry 2018, 89(7), 762-768.
- Tasca G, Monforte M, Diaz-Manera J, Brisca G, Semplicini C, D'Amico A, Fattori F, Pichiecchio A, Berardinelli A, Maggi L, Maccagnano E, Lokken N, Marini-Bettolo C, Munell F, Sanchez A, Alshaikh N, Voermans NC, Dastgir J, Vlodavets D, Haberlova J, Magnano G, Walter MC, Quijano-Roy S, Carlier R-Y, van Engelen BGM, Vissing J, Straub V, Bonnemann CG, Mercuri E, Muntoni F, Pegoraro E, Bertini E, Udd B, Ricci E, Bruno C. MRI in sarcoglycanopathies: a large international cohort study. Journal of Neurology, Neurosurgery, and Psychiatry 2018, 89(1), 72-77.
- Best AF, Hilbert JE, Wood L, Martens WB, Nikolenko N, Marini-Bettolo C, Lochmuller H, Rosenberg PS, Moxley RT, Greene MH, Gadalla SM. Survival patterns and cancer determinants in families with myotonic dystrophy type 1. European Journal of Neurology 2018, 26(1), 58-65.
- Harris E, Burki U, Marini-Bettolo C, Neri M, Scotton C, Hudson J, Bertoli M, Evangelista T, Vroling B, Polvikoski T, Roberts M, Topf A, Bushby K, McArthur D, Lochmuller H, Ferlini A, Straub V, Barresi R. Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains. Neuromuscular Disorders 2017, 27(9), 861-872.
- Harris E, Topf A, Barresi R, Hudson J, Powell H, Tellez J, Hicks D, Porter A, Bertoli M, Evangelista T, Marini-Betollo C, Magnusson O, Lek M, MacArthur D, Bushby K, Lochmuller H, Straub V. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. Orphanet Journal of Rare Diseases 2017, 12(151), -.
- 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.
- Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmuller H, Brais B, Laporte J, Tetreault M. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain 2017, 140(1), 37-48.
- 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.
- 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.
- Wood L, Cordts I, Atalaia A, Marini-Bettolo C, Maddison P, Phillips M, Roberts M, Rogers M, Hammans S, Straub V, Petty R, Orrell R, Monckton DG, Nikolenko N, Jimenez-Moreno AC, Thompson R, Hilton-Jones D, Turner C, Lochmuller H. The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research. Journal of Neurology 2017, 264(5), 979-988.
- Nikolenko N, Wood L, Turner C, Hilton-Jones D, Atalaia A, Marini-Bettolo C, Maddison P, Philips M, Roberts M, Rogers M, Straub V, Hammans S, Lochmuller H. The UK Myotonic Dystrophy Patient Registry. In: 14th International Congress on Neuromuscular Diseases (ICNMD XIV). 2016, Toronto, Canada: IOS Press.
- 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.