Browse by UCL people
Group by: Type | Date
Number of items: 58.
2026
Buddle, Sarah;
Brown, Li-An K;
Morfopoulou, Sofia;
Torres Montaguth, Oscar Enrique;
Scoto, Mariacristina;
Herder, Vanessa;
Dhawan, Anil;
... Breuer, Judith; + view all
(2026)
Contaminating plasmid sequences and disrupted vector genomes in the liver following adeno-associated virus gene therapy.
Nature Medicine
10.1038/s41591-025-04073-z.
(In press).
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2025
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Landon, Gregory;
Stimpson, Georgia;
Guglieri, Michela;
Sarkozy, Anna;
Manzur, Adnan Y;
UK NorthStar Clinical Network;
Muntoni, Francesco;
(2025)
Observational study of changes to glucocorticosteroid prescribing patterns in duchenne muscular dystrophy in the UK over the last decade.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2024-335223.
(In press).
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2024
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Cornell, Nikki;
Childs, Anne-Marie;
Wraige, Elizabeth;
Munot, Pinki;
Ambegaonkar, Gautam;
Chow, Gabriel;
Hughes, Imelda;
... paediatric UK risdiplam EAMS working group, .; + view all
(2024)
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain.
Journal of Neuromuscular Diseases
, 11
(2)
pp. 361-368.
10.3233/JND-230162.
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Gowda, V;
Atherton, M;
Murugan, A;
Servais, L;
Sheehan, J;
Standing, E;
Manzur, A;
... Wraige, E; + view all
(2024)
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.
The Lancet Regional Health - Europe
, 37
, Article 100817. 10.1016/j.lanepe.2023.100817.
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Raga, S;
Voermans, N;
Perez-Neri, I;
Dowling, J;
Jungbluth, H;
Baranello, G;
Servais, L;
... Wilmshurst, J; + view all
(2024)
Treatments for RYR1-related disorders.
Cochrane Database of Systematic Reviews
, 2024
(12)
, Article CD014439. 10.1002/14651858.CD014439.
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2023
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Dunaway Young, S;
McGrattan, K;
Johnson, E;
van der Heul, M;
Duong, T;
Bakke, M;
Werlauff, U;
... Lofra, RM; + view all
(2023)
Development of an International SMA Bulbar Assessment for Inter-professional Administration.
Journal of neuromuscular diseases
, 10
(4)
pp. 639-652.
10.3233/JND-221672.
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O'Connor, Graeme;
Edel, Lisa;
Raquq, Sarah;
Bowerman, Melissa;
Szmurlo, Agnieszka;
Simpson, Zoe;
Hardy, Isobel;
... Baranello, Giovanni; + view all
(2023)
Open-labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study.
Nutrition in Clinical Practice
, 38
(4)
pp. 871-880.
10.1002/ncp.10940.
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Oskoui, Maryam;
Day, John W;
Deconinck, Nicolas;
Mazzone, Elena S;
Nascimento, Andres;
Saito, Kayoko;
Vuillerot, Carole;
... SUNFISH Working Group; + view all
(2023)
Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA).
Journal of Neurology
10.1007/s00415-023-11560-1.
(In press).
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Shell, RD;
McGrattan, KE;
Hurst-Davis, R;
Young, SD;
Baranello, G;
Lavrov, A;
O'Brien, E;
... Darras, BT; + view all
(2023)
Onasemnogene abeparvovec preserves bulbar function in infants with presymptomatic spinal muscular atrophy: a post-hoc analysis of the SPR1NT trial.
Neuromuscular Disorders
10.1016/j.nmd.2023.06.005.
(In press).
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Staunton, Hannah;
Cleanthous, Sophie;
Teodoro, Vanda;
Barrett, Louise;
Braid, Jessica;
Ewens, Bethany;
Cano, Stefan;
... Mayhew, Anna; + view all
(2023)
A Mixed-method Approach to Develop an Ambulatory Module of the SMA Independence Scale.
Journal of Neuromuscular Diseases
, 10
(6)
pp. 1093-1109.
10.3233/JND-230096.
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Stimpson, Georgia;
Ramsey, Danielle;
Wolfe, Amy;
Mayhew, Anna;
Scoto, Mariacristina;
Baranello, Giovanni;
Muni Lofra, Robert;
... International SMA Consortium (iSMAc); + view all
(2023)
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants.
Journal of Clinical Medicine
, 12
(5)
, Article 1920. 10.3390/jcm12051920.
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2022
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Bianchi, ML;
Vai, S;
Baranello, G;
Broggi, F;
Judex, S;
Hangartner, T;
Rubin, C;
(2022)
Low-Intensity Vibration Protects the Weight-Bearing Skeleton and Suppresses Fracture Incidence in Boys With Duchenne Muscular Dystrophy: A Prospective, Randomized, Double-Blind, Placebo-Controlled Clinical Trial.
JBMR Plus
, Article e10685. 10.1002/jbm4.10685.
(In press).
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Chesshyre, Mary;
Ridout, Deborah;
Hashimoto, Yasumasa;
Ookubo, Yoko;
Torelli, Silvia;
Maresh, Kate;
Ricotti, Valeria;
... Muntoni, Francesco; + view all
(2022)
Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy.
Journal of Cachexia, Sarcopenia and Muscle
10.1002/jcsm.12914.
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Guglieri, M;
Bushby, K;
McDermott, MP;
Hart, KA;
Tawil, R;
Martens, WB;
Herr, BE;
... Chang, T; + view all
(2022)
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA
, 327
(15)
pp. 1456-1468.
10.1001/jama.2022.4315.
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Guglieri, M;
Clemens, PR;
Perlman, SJ;
Smith, EC;
Horrocks, I;
Finkel, RS;
Mah, JK;
... Hoffman, EP; + view all
(2022)
Efficacy and Safety of Vamorolone vs Placebo and Prednisone among Boys with Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA Neurology
10.1001/jamaneurol.2022.2480.
(In press).
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Masson, R;
Mazurkiewicz-Bełdzińska, M;
Rose, K;
Servais, L;
Xiong, H;
Zanoteli, E;
Baranello, G;
... Sposetti, L; + view all
(2022)
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial.
The Lancet Neurology
, 21
(12)
pp. 1110-1119.
10.1016/S1474-4422(22)00339-8.
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Mercuri, Eugenio;
Baranello, Giovanni;
Boespflug-Tanguy, Odile;
De Waele, Liesbeth;
Goemans, Nathalie;
Kirschner, Janbernd;
Masson, Riccardo;
... Servais, Laurent; + view all
(2022)
Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment.
European Journal of Neurology
10.1111/ene.15499.
(In press).
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Sabbatini, Daniele;
Fusto, Aurora;
Vianello, Sara;
Villa, Matteo;
Janik, Joanna;
D'Angelo, Grazia;
Diella, Eleonora;
... Pegoraro, Elena; + view all
(2022)
Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
Journal of Neurology
, 269
pp. 4884-4894.
10.1007/s00415-022-11133-8.
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Stimpson, Georgia;
Raquq, Sarah;
Chesshyre, Mary;
Fewtrell, Mary;
Ridout, Deborah;
Sarkozy, Anna;
Manzur, Adnan;
... NorthStar Network; + view all
(2022)
Growth pattern trajectories in boys with Duchenne muscular dystrophy.
Orphanet Journal of Rare Diseases
, 17
, Article 20. 10.1186/s13023-021-02158-9.
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Tizzano, Eduardo F;
Christie-Brown, Vanessa;
Baranello, Giovanni;
Germanenko, Olga;
Gray, Allyson;
Krstic, Marija;
Lilien, Charlotte;
... Scoto, Mariacristina; + view all
(2022)
Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative.
Journal of Neuromuscular Diseases
, 9
(6)
pp. 809-820.
10.3233/JND-221538.
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Weststrate, Harriet;
Stimpson, Georgia;
Thomas, Lily;
Scoto, Mariacristina;
Johnson, Emily;
Stewart, Alexandra;
Muntoni, Francesco;
... Conway, Eleanor; + view all
(2022)
Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen.
Developmental Medicine & Child Neurology
10.1111/dmcn.15171.
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Zhou, Haiyan;
Hong, Ying;
Scoto, Mariacristina;
Thomson, Alison;
Pead, Emma;
MacGillivray, Tom;
Hernandez-Gerez, Elena;
... Muntoni, Francesco; + view all
(2022)
Microvasculopathy in SMA is driven by a reversible autonomous endothelial cell defect.
Journal of Clinical Investigation
, 132
(21)
, Article e153430. 10.1172/JCI153430.
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2021
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Baranello, G;
Gorni, K;
Daigl, M;
Kotzeva, A;
Evans, R;
Hawkins, N;
Scott, DA;
... Servais, L; + view all
(2021)
Prognostic factors and treatment-effect modifiers in spinal muscular atrophy.
Clinical Pharmacology and Therapeutics
10.1002/cpt.2247.
(In press).
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Baranello, G;
Darras, BT;
Day, JW;
Deconinck, N;
Klein, A;
Masson, R;
Mercuri, E;
... FIREFISH Working Group; + view all
(2021)
Risdiplam in Type 1 Spinal Muscular Atrophy.
New England Journal of Medicine
, 384
(10)
pp. 915-923.
10.1056/NEJMoa2009965.
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Coratti, G;
Pera, MC;
Montes, J;
Pasternak, A;
Scoto, M;
Baranello, G;
Messina, S;
... Mercuri, E; + view all
(2021)
Different trajectories in upper limb and gross motor function in spinal muscular atrophy.
Muscle & Nerve
, 64
(5)
pp. 552-559.
10.1002/mus.27384.
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Coratti, G;
Pane, M;
Brogna, C;
Ricotti, V;
Messina, S;
D'Amico, A;
Bruno, C;
... on behalf on the International DMD Group and the iMDEX Consortiu; + view all
(2021)
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
PLoS One
, 16
(6)
, Article e0253882. 10.1371/journal.pone.0253882.
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Darras, BT;
Masson, R;
Mazurkiewicz-Bełdzińska, M;
Rose, K;
Xiong, H;
Zanoteli, E;
Baranello, G;
... FIREFISH Working Group; + view all
(2021)
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
New England Journal of Medicine
, 385
pp. 427-435.
10.1056/NEJMoa2102047.
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De Amicis, R;
Baranello, G;
Foppiani, A;
Leone, A;
Battezzati, A;
Bedogni, G;
Ravella, S;
... Bertoli, S; + view all
(2021)
Growth patterns in children with spinal muscular atrophy.
Orphanet Journal of Rare Diseases
, 16
(1)
, Article 375. 10.1186/s13023-021-02015-9.
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Foppiani, A;
De Amicis, R;
Leone, A;
Ravella, S;
Bedogni, G;
Battezzati, A;
D'Amico, A;
... Bertoli, S; + view all
(2021)
Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation.
Clinical Nutrition
, 40
(4)
pp. 1578-1587.
10.1016/j.clnu.2021.02.026.
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Masson, R;
Brusa, C;
Scoto, M;
Baranello, G;
(2021)
Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review.
Developmental Medicine and Child Neurology
, 63
(5)
pp. 527-536.
10.1111/dmcn.14798.
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Sergott, RC;
Amorelli, GM;
Baranello, G;
Barreau, E;
Beres, S;
Kane, S;
Mercuri, E;
... Marzoli, SB; + view all
(2021)
Risdiplam treatment has not led to retinal toxicity in patients with spinal muscular atrophy.
Annals of Clinical and Translational Neurology
, 8
(1)
pp. 54-65.
10.1002/acn3.51239.
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Servais, L;
Baranello, G;
Scoto, M;
Daron, A;
Oskoui, M;
(2021)
Therapeutic interventions for spinal muscular atrophy: preclinical and early clinical development opportunities.
Expert Opinion on Investigational Drugs
, 30
(5)
pp. 519-527.
10.1080/13543784.2021.1904889.
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Stimpson, G;
Chesshyre, M;
Baranello, G;
Muntoni, F;
(2021)
Lessons Learned From Translational Research in Neuromuscular Diseases: Impact on Study Design, Outcome Measures and Managing Expectation.
Frontiers in Genetics
, 12
, Article 759994. 10.3389/fgene.2021.759994.
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Wadman, R;
De Amicis, R;
Brusa, C;
Battezzati, A;
Bertoli, S;
Davis, T;
Main, M;
... Muntoni, F; + view all
(2021)
Feeding difficulties in children and adolescents with spinal muscular atrophy type 2.
Neuromuscular Disorders
, 31
(2)
pp. 101-112.
10.1016/j.nmd.2020.12.007.
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Wolfe, A;
Scoto, M;
Milev, E;
Lofra, RM;
Abbott, L;
Wake, R;
Rohwer, A;
... Muntoni, F; + view all
(2021)
Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation.
Muscle & Nerve
, 64
(5)
pp. 545-551.
10.1002/mus.27404.
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Zappa, G;
LoMauro, A;
Baranello, G;
Cavallo, E;
Corti, P;
Mastella, C;
Costantino, MA;
(2021)
Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1.
Journal of Neurodevelopmental Disorders
, 13
, Article 9. 10.1186/s11689-021-09355-4.
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2020
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Baranello, G;
De Amicis, R;
Arnoldi, MT;
Zanin, R;
Mastella, C;
Masson, R;
Leone, A;
... Bertoli, S; + view all
(2020)
Evaluation of body composition as a potential biomarker in spinal muscular atrophy.
Muscle & Nerve
10.1002/mus.26823.
(In press).
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Baranello, G;
Signorini, S;
Tinelli, F;
Guzzetta, A;
Pagliano, E;
Rossi, A;
Foscan, M;
... On Behalf of the VFCS Study Group, .; + view all
(2020)
Visual Function Classification System for children with cerebral palsy: development and validation.
Developmental Medicine and Child Neurology
, 62
(1)
pp. 104-110.
10.1111/dmcn.14270.
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Bello, L;
D'Angelo, G;
Villa, M;
Fusto, A;
Vianello, S;
Merlo, B;
Sabbatini, D;
... Pegoraro, E; + view all
(2020)
Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
Annals of Clinical and Translational Neurology
, 7
(5)
pp. 786-798.
10.1002/acn3.51046.
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Bonanno, S;
Marcuzzo, S;
Malacarne, C;
Giagnorio, E;
Masson, R;
Zanin, R;
Arnoldi, MT;
... Maggi, L; + view all
(2020)
Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients.
Biomedicines
, 8
(2)
, Article 21. 10.3390/biomedicines8020021.
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Carneiro, MIS;
Russo, C;
Masson, R;
Rossi Sebastiano, D;
Baranello, G;
Turati, C;
Bolognini, N;
(2020)
Motor learning in unilateral cerebral palsy and the influence of corticospinal tract reorganization.
European Journal of Paediatric Neurology
, 27
pp. 49-59.
10.1016/j.ejpn.2020.04.013.
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Mercuri, E;
Muntoni, F;
Osorio, AN;
Tulinius, M;
Buccella, F;
Morgenroth, LP;
Gordish-Dressman, H;
... CINRG Duchenne Natural History Investigators; + view all
(2020)
Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study.
Journal of Comparative Effectiveness Research
10.2217/cer-2019-0171.
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2019
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Baranello, G;
Vai, S;
Broggi, F;
Masson, R;
Arnoldi, MT;
Zanin, R;
Mastella, C;
(2019)
Evolution of bone mineral density, bone metabolism and fragility fractures in Spinal Muscular Atrophy (SMA) types 2 and 3.
Neuromuscular Disorders
, 29
(7)
pp. 525-532.
10.1016/j.nmd.2019.06.001.
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Bertoli, S;
Foppiani, A;
De Amicis, R;
Leone, A;
Mastella, C;
Bassano, M;
Giaquinto, E;
... Battezzati, A; + view all
(2019)
Anthropometric measurement standardization for a multicenter nutrition survey in children with spinal muscular atrophy.
European Journal of Clinical Nutrition
10.1038/s41430-019-0392-2.
(In press).
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Brogna, C;
Coratti, G;
Pane, M;
Ricotti, V;
Messina, S;
D'Amico, A;
Bruno, C;
... on behalf on the International DMD group, .; + view all
(2019)
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
PLoS One
, 14
(6)
, Article e0218683. 10.1371/journal.pone.0218683.
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Deguise, M-O;
Baranello, G;
Mastella, C;
Beauvais, A;
Michaud, J;
Leone, A;
De Amicis, R;
... Kothary, R; + view all
(2019)
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy.
Annals of Clinical and Translational Neurology
, 6
(8)
pp. 1519-1532.
10.1002/acn3.50855.
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LoMauro, A;
Mastella, C;
Alberti, K;
Masson, R;
Aliverti, A;
Baranello, G;
(2019)
Effect of Nusinersen on Respiratory Muscle Function in Different Subtypes of Type 1 Spinal Muscular Atrophy.
American Journal of Respiratory and Critical Care Medicine
, 200
(12)
pp. 1547-1550.
10.1164/rccm.201906-1175LE.
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Marchet, S;
Invernizzi, F;
Blasevich, F;
Bruno, V;
Dusi, S;
Venco, P;
Fiorillo, C;
... Lamperti, C; + view all
(2019)
Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.
Mitochondrion
, 47
pp. 24-29.
10.1016/j.mito.2019.04.002.
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2018
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Garavaglia, L;
Pagliano, E;
Baranello, G;
Pittaccio, S;
(2018)
Why orthotic devices could be of help in the management of Movement Disorders in the young.
Journal of NeuroEngineering and Rehabilitation
, 15
, Article 118. 10.1186/s12984-018-0466-8.
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LoMauro, A;
Banfi, P;
Mastella, C;
Alberti, K;
Baranello, G;
Aliverti, A;
(2018)
A New Method for Measuring Bell-Shaped Chest Induced by Impaired Ribcage Muscles in Spinal Muscular Atrophy Children.
Frontiers in Neurology
, 9
, Article 703. 10.3389/fneur.2018.00703.
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Pane, M;
Coratti, G;
Brogna, C;
Mazzone, ES;
Mayhew, A;
Fanelli, L;
Messina, S;
... Mercuri, E; + view all
(2018)
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.
PLoS One
, 13
(6)
, Article e0199223. 10.1371/journal.pone.0199223.
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Tiziano, FD;
Lomastro, R;
Abiusi, E;
Pasanisi, MB;
Di Pietro, L;
Fiori, S;
Baranello, G;
... Morandi, L; + view all
(2018)
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol.
Journal of Medical Genetics
10.1136/jmedgenet-2018-105482.
(In press).
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Vicari, S;
Piccini, G;
Mercuri, E;
Battini, R;
Chieffo, D;
Bulgheroni, S;
Pecini, C;
... Alfieri, P; + view all
(2018)
Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?
PLoS One
, 13
(1)
, Article e0191164. 10.1371/journal.pone.0191164.
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2017
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Bertoli, S;
De Amicis, R;
Mastella, C;
Pieri, G;
Giaquinto, E;
Battezzati, A;
Leone, A;
(2017)
Spinal Muscular Atrophy, types I and II: What are the differences in body composition and resting energy expenditure?
Clinical Nutrition
, 36
(6)
pp. 1674-1680.
10.1016/j.clnu.2016.10.020.
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Böhm, J;
Bulla, M;
Urquhart, JE;
Malfatti, E;
Williams, SG;
O'Sullivan, J;
Szlauer, A;
... Laporte, J; + view all
(2017)
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
Human Mutation
, 38
(4)
pp. 426-438.
10.1002/humu.23172.
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2016
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LoMauro, A;
Aliverti, A;
Mastella, C;
Arnoldi, MT;
Banfi, P;
Baranello, G;
(2016)
Spontaneous Breathing Pattern as Respiratory Functional Outcome in Children with Spinal Muscular Atrophy (SMA).
PLoS One
, 11
(11)
, Article e0165818. 10.1371/journal.pone.0165818.
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Mercuri, E;
Coratti, G;
Messina, S;
Ricotti, V;
Baranello, G;
D'Amico, A;
Pera, MC;
... Pane, M; + view all
(2016)
Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy.
PLoS ONE
, 11
(8)
, Article e0160195. 10.1371/journal.pone.0160195.
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Mercuri, E;
Signorovitch, JE;
Swallow, E;
Song, J;
Ward, SJ;
Pane, M;
Mazzone, E;
... Reha, A; + view all
(2016)
Categorizing natural history trajectories of ambulatory function measured by the 6-minute walk distance in patients with Duchenne muscular dystrophy.
Neuromuscular Disorders
, 26
(9)
pp. 576-583.
10.1016/j.nmd.2016.05.016.
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