Data from SMA REACH UK is often utilised for academic research projects which result in publications. Below are details on publications involving the SMA REACH UK consortium.
Characteristics of Patients With Spinal Muscular Atrophy Who Have Switched Treatments: A Multi-Center Experience in the United Kingdom
O'Reilly, E., Stimpson, G., Rohwer, A., Milev, E., Wolfe, A., Baranello, G., Muntoni, F., Scoto, M. and SMA REACH UK Network (2025), Characteristics of Patients With Spinal Muscular Atrophy Who Have Switched Treatments: A Multi-Center Experience in the United Kingdom. Muscle & Nerve, 71: 995-1005. https://doi.org/10.1002/mus.28383
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3
Wolfe A, Stimpson G, Ramsey D, Coratti G, Dunaway Young S, Mayhew A, Pane M, Rohwer A, Muni Lofra R, Duong T, O'Reilly E, Milev E, Civitello M, Sansone VA, D'Amico A, Bertini E, Messina S, Bruno C, Albamonte E, Mazzone E, Main M, Montes J, Glanzman AM, Zolkipli-Cunningham Z, Pasternak A, Marini-Bettolo C, Day JW, Darras BT, De Vivo DC, Baranello G, Scoto M, Finkel RS, Mercuri E, Muntoni F; international SMA consortium (iSMAc). Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3. J Neuromuscul Dis. 2024;11(3):665-677. https://doi.org/10.3233/JND-23021
Assessment of the upper limb function, strength, and mobility in treatment-naive children with spinal muscular atrophy Types 2 and 3.
Milev E, Selby V, Wolfe A, Rohwer A, Tillmann R, Ramsey D, Iodice M, Hogrel JY, Baranello G, Scoto M, Muntoni F. Assessment of the upper limb function, strength, and mobility in treatment-naive children with spinal muscular atrophy Types 2 and 3. Muscle Nerve. 2024 Mar;69(3):340-348. https://doi.org/10.1002/mus.28041
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants
Stimpson G, Ramsey D, Wolfe A, Mayhew A, Scoto M, Baranello G, Muni Lofra R, Main M, Milev E, Coratti G, et al. 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. 2023; 12(5):1920. https://doi.org/10.3390/jcm12051920
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy.
Pane M, Coratti G, Pera MC, Sansone VA, Messina S, d'Amico A, Bruno C, Salmin F, Albamonte E, De Sanctis R, Sframeli M, Di Bella V, Morando S, Palermo C, Frongia AL, Antonaci L, Capasso A, Catteruccia M, Longo A, Ricci M, Cutrona C, Pirola A, Bravetti C, Pedemonte M, Brolatti N, Bertini E, Mercuri E; Italian ISMAC group. Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy. Ann Clin Transl Neurol. 2022 Mar;9(3):404-409. doi: 10.1002/acn3.51514.
Body mass index in type 2 spinal muscular atrophy: a longitudinal study.
Ferrantini G, Coratti G, Onesimo R, Lucibello S, Bompard S, Turrini I, Cicala G, Caprarelli M, Pera MC, Bravetti C, Berti B, Giorgio V, Bruno C, Brolatti N, Panicucci C, D'Amico A, Longo A, Leoni C, Sansone VA, Albamonte E, Messina S, Sframeli M, Bertini E, Pane M, Mercuri E; Italian ISMAC study group. Body mass index in type 2 spinal muscular atrophy: a longitudinal study. Eur J Pediatr. 2022 May;181(5):1923-1932. https://pubmed.ncbi.nlm.nih.gov/35048179/
Revised upper limb module in paediatric type II and III spinal muscular atrophy: 24 month changes
Giorgia Coratti, Maria Carmela Pera, Jacqueline Montes, Mariacristina Scoto, Amy Pasternak, Francesca Bovis, Maria Sframeli, Adele D'Amico, Marika Pane, Emilio Albamonte, Laura Antonaci, Anna Lia Frongia, Irene Mizzoni, Valeria A Sansone, Massimo Russo, Claudio Bruno, Giovanni Baranello, Sonia Messina, Sally Dunaway Young, Allan M Glanzman, Tina Duong, Roberto de Sanctis, Elena Stacy Mazzone, Evelin Milev, Annemarie Rohwer, Matthew Civitello, Basil T Darras, Enrico Bertini, John Day, Francesco Muntoni, Darryl C. De Vivo, Richard S Finkel, Eugenio Mercuri, Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes, Neuromuscular Disorders, Volume 32, Issue 1, 2022, Pages 36-42. https://doi.org/10.1016/j.nmd.2021.10.009
A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs
Edel L, Grime C, Robinson V, Manzur A, Abel F, Munot P, Ridout D, Scoto M, Muntoni F, Chan E. A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs. Neuromuscul Disord. 2021 Apr;31(4):300-309. https://doi.org/10.1016/j.nmd.2021.01.008
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study
Trucco F, Ridout D, Scoto M, Coratti G, Main ML, Muni Lofra R, Mayhew AG, Montes J, Pane M, Sansone V, Albamonte E, D'Amico A, Bertini E, Messina S, Bruno C, Parasuraman D, Childs AM, Gowda V, Willis T, Ong M, Marini-Bettolo C, De Vivo DC, Darras BT, Day J, Kichula EA, Mayer OH, Navas Nazario AA, Finkel RS, Mercuri E, Muntoni F; International SMA Consortium (iSMAc). Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study. Neurology. 2021 Jan 26;96(4):e587-e599. https://doi.org/10.1212/WNL.0000000000011051
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure
"Sansone VA, Pirola A, Lizio A, Greco LC, Coratti G, Casiraghi J, Pane M, Pera MC, Italiano C, Messina S, Pozzi S, Sframeli M, D'Amico A, Bertini E, Bruno C, Mauro L, Salmin F, Stancanelli C, Pedemonte M, Albamonte E, Zizzi C, Heatwole C, Mercuri E; ISMAC group. The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure. Neuromuscul Disord. 2021 May;31(5):409-418. https://doi.org/10.1016/j.nmd.2021.02.006
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen
Coratti G, Pane M, Lucibello S, Pera MC, Pasternak A, Montes J, Sansone VA, Duong T, Dunaway Young S, Messina S, D'Amico A, Civitello M, Glanzman AM, Bruno C, Salmin F, Tacchetti P, Carnicella S, Sframeli M, Antonaci L, Frongia AL, De Vivo DC, Darras BT, Day J, Bertini E, Muntoni F, Finkel R, Mercuri E; iSMAC group. Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen. Neuromuscul Disord. 2021 Jul;31(7):596-602. https://doi.org/10.1016/j.nmd.2021.03.012
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy
Pera, M.C., Coratti, G., Bovis, F., Pane, M., Pasternak, A., Montes, J., Sansone, V.A., Dunaway Young, S., Duong, T., Messina, S., Mizzoni, I., D’Amico, A., Civitello, M., Glanzman, A.M., Bruno, C., Salmin, F., Morando, S., De Sanctis, R., Sframeli, M., Antonaci, L., Frongia, A.L., Rohwer, A., Scoto, M., De Vivo, D.C., Darras, B.T., Day, J., Martens, W., Patanella, K.A., Bertini, E., Muntoni, F., Finkel, R., Mercuri, E. and the iSMAC group (2021), Nusinersen in pediatric and adult patients with type III spinal muscular atrophy. Ann. Clin. Transl. Neurol., 8: 1622-1634 https://doi.org/10.1002/acn3.51411
Different trajectories in upper limb and gross motor function in spinal muscular atrophy
Coratti G, Pera MC, Montes J, et al. Different trajectories in upper limb and gross motor function in spinal muscular atrophy. Muscle & Nerve. 2021; 64(5): 552-559 https://doi.org/10.1002/mus.27384
Longitudinal changes in respiratory and upper limb function in a paediatric type III spinal muscular atrophy cohort following loss of ambulation
Wolfe A, Scoto M, Milev E, et al. Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation. Muscle & Nerve. 2021;64(5):545-551. https://doi.org/10.1002/mus.27404
Characteristics of a Prevalent SMA Population Drawn From a Patient Registry Network (2021),
ISPE Annual Meeting Abstracts. Pharmacoepidemiol Drug Saf, 30: 3-400. https://onlinelibrary.wiley.com/doi/10.1002/pds.5305
The International Spinal Muscular Atrophy Registry (ISMAR): Baseline Characteristics
J. Montes, G. Coratti, M. Scoto, J. Balashkin, M. Pera, S. Samsuddin, W. Martens, A. Bozzardi, A. Rodriguez, M. Civitello, M. Madden, B. Lings, A. Rohwer, S. Hall, Z. Zolkipli, J. Day, B. Darras, D. De Vivo, F. Muntoni, R. Finkel, E. Mercuri, SMA CLINICAL DATA: EP.253 The international spinal muscular atrophy registry (ISMAR): baseline characteristics,cNeuromuscular Disorders, Volume 31, Supplement 1, 2021, Page S126 https://doi.org/10.1016/j.nmd.2021.07.278
Revised upper limb module in pediatric type II and III spinal muscular atrophy: 24 month changes
Giorgia Coratti, Maria Carmela Pera, Jacqueline Montes, Mariacristina Scoto, Amy Pasternak, Francesca Bovis, Maria Sframeli, Adele D'Amico, Marika Pane, Emilio Albamonte, Laura Antonaci, Anna Lia Frongia, Irene Mizzoni, Valeria A Sansone, Massimo Russo, Claudio Bruno, Giovanni Baranello, Sonia Messina, Sally Dunaway Young, Allan M Glanzman, Tina Duong, Roberto de Sanctis, Elena Stacy Mazzone, Evelin Milev, Annemarie Rohwer, Matthew Civitello, Basil T Darras, Enrico Bertini, John Day, Francesco Muntoni, Darryl C. De Vivo, Richard S Finkel, Eugenio Mercuri, Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes, Neuromuscular Disorders, Volume 32, Issue 1, 2022, Pages 36-42. https://doi.org/10.1016/j.nmd.2021.10.009
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen
Sansone, V.A., Coratti, G., Pera, M.C., Pane, M., Messina, S., Salmin, F., Albamonte, E., De Sanctis, R., Sframeli, M., Di Bella, V., Morando, S., d’Amico, A., Frongia, A.L., Antonaci, L., Pirola, A., Pedemonte, M., Bertini, E., Bruno, C., Mercuri, E. and the Italian ISMAC group (2021), Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen. Eur J Neurol, 28: 602-608. https://doi.org/10.1111/ene.14567
Spinal muscular atrophy - insights and challenges in the treatment era.
Mercuri, E., Pera, M.C., Scoto, M. et al. Spinal muscular atrophy — insights and challenges in the treatment era. Nat Rev Neurol 16, 706–715 (2020) https://doi.org/10.1038/s41582-020-00413-4
Investigating temporal changes in percent predicted FVC and RULM score in non-ambulant SMA type III children
Wolfe A, Scoto M, Muni-Lofra R, et al84 Investigating temporal changes in percent predicted FVC and RULM score in non-ambulant SMA type III childrenArchives of Disease in Childhood 2020;105:A29 https://adc.bmj.com/content/105/Suppl_2/A29.1
Gain and loss of abilities in type II SMA: A 12-month natural history study
Coratti G, Lucibello S, Pera MC, Duong T, Muni Lofra R, Civitello M, D'Amico A, Goemans N, Darras BT, Bruno C, Sansone VA, Day J, Nascimento Osorio A, Muntoni F, Montes J, Sframeli M, Finkel R, Mercuri E; ISMAC group. Gain and loss of abilities in type II SMA: A 12-month natural history study. Neuromuscul Disord. 2020 Sep;30(9):765-771. https://doi.org/10.1016/j.nmd.2020.07.004
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA
Coratti G, Pera MC, Lucibello S, Montes J, Pasternak A, Mayhew A, Glanzman AM, Young SD, Pane M, Scoto M, Messina S, Goemans N, Osorio AN, Pedemonte M, Sansone V, Bertini E, De Vivo DC, Finkel R, Muntoni F, Mercuri E; ISMAC group and collaborators.. Age and baseline values predict 12 and 24-month functional changes in type 2 SMA. Neuromuscul Disord. 2020 Sep;30(9):756-764. https://doi.org/10.1016/j.nmd.2020.07.005
Clinical Variability in Spinal Muscular Atrophy Type III
Coratti, G., Messina, S., Lucibello, S., Pera, M.C., Montes, J., Pasternak, A., Bovis, F., Exposito Escudero, J., Mazzone, E.S., Mayhew, A., Glanzman, A.M., Young, S.D., Salazar, R., Duong, T., Muni Lofra, R., De Sanctis, R., Carnicella, S., Milev, E., Civitello, M., Pane, M., Scoto, M., Bettolo, C.M., Antonaci, L., Frongia, A., Sframeli, M., Vita, G.L., D'Amico, A., Van Den Hauwe, M., Albamonte, E., Goemans, N., Darras, B.T., Bertini, E., Sansone, V., Day, J., Nascimento Osorio, A., Bruno, C., Muntoni, F., De Vivo, D.C., Finkel, R.S. and Mercuri, E. (2020), Clinical Variability in Spinal Muscular Atrophy Type III. Ann Neurol, 88: 1109-1117. https://doi.org/10.1002/ana.25900
Revised upper limb module for spinal muscular atrophy: 12 month changes
Pera, M.C., Coratti, G., Mazzone, E.S., Montes, J., Scoto, M., De Sanctis, R., Main, M., Mayhew, A., Muni Lofra, R., Dunaway Young, S., Glanzman, A.M., Duong, T., Pasternak, A., Ramsey, D., Darras, B., Day, J.W., Finkel, R.S., De Vivo, D.C., Sormani, M.P., Bovis, F., Straub, V., Muntoni, F., Pane, M., Mercuri, E. and for the iSMAC Consortium Group (2019), Revised upper limb module for spinal muscular atrophy: 12 month changes. Muscle Nerve, 59: 426-430. https://doi.org/10.1002/mus.26419
Development of an academic disease registry for spinal muscular atrophy
Mercuri E, Finkel R, Scoto M, Hall S, Eaton S, Rashid A, Balashkina J, Coratti G, Pera MC, Samsuddin S, Civitello M, Muntoni F; iSMAC Group. Development of an academic disease registry for spinal muscular atrophy. Neuromuscul Disord. 2019 Oct;29(10):794-799. https://doi.org/10.1016/j.nmd.2019.08.014
A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy
Messina S, Frongia AL, Antonaci L, Pera MC, Coratti G, Pane M, Pasternak A, Civitello M, Montes J, Mayhew A, Finkel R, Muntoni F, Mercuri E; ISMAc group. A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy. Neuromuscul Disord. 2019 Dec;29(12):940-950. https://doi.org/10.1016/j.nmd.2019.10.001
The relationship between function and muscle strength in the upper limb in a cohort of children with spinal muscular atrophy (SMA) type II and III – a prospective study.
E. Milev, V. Selby, J. Reznik, R. Tillmann, M. Iodice, M. Scoto, JR. Hogrel, F. Muntoni, SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES: P.79 The relationship between function and muscle strength in the upper limb in a cohort of children with spinal muscular atrophy type II and III – a prospective study, Neuromuscular Disorders, Volume 28, Supplement 2, 2018, Pages S53-S54, https://doi.org/10.1016/j.nmd.2018.06.107