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Page 1
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain.
Cornell N, Childs AM, Wraige E, Munot P, Ambegaonkar G, Chow G, Hughes I, Illingworth M, Majumdar A, Marini-Bettolo C, Parasuraman D, Spinty S, Willis T, Scoto M, Baranello G; Paediatric UK Risdiplam EAMS Working Group. Cornell N, et al. J Neuromuscul Dis. 2024;11(2):361-368. doi: 10.3233/JND-230162. J Neuromuscul Dis. 2024. PMID: 38189761 Free PMC article.
Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen.
Aragon-Gawinska K, Daron A, Ulinici A, Vanden Brande L, Seferian A, Gidaro T, Scoto M, Deconinck N, Servais L; SMA-Registry Study Group. Aragon-Gawinska K, et al. Dev Med Child Neurol. 2020 Mar;62(3):310-314. doi: 10.1111/dmcn.14412. Epub 2019 Dec 4. Dev Med Child Neurol. 2020. PMID: 31799720 Free article.
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research.
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, Lochmüller H. Wood L, et al. J Neurol. 2017 May;264(5):979-988. doi: 10.1007/s00415-017-8483-2. Epub 2017 Apr 10. J Neurol. 2017. PMID: 28397002 Free PMC article.
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, Pane M, Sansone V, D'Amico A, Bertini E, Messina S, Bruno C, Albamonte E, Mazzone ES, Montes J, Glanzman AM, Zolkipli-Cunningham Z, Pasternak A, Duong T, Dunaway Young S, Civitello M, Marini-Bettolo C, Day JW, Darras BT, De Vivo DC, Finkel RS, Mercuri E, Muntoni F; International SMA Consortium (iSMAc). Stimpson G, et al. J Clin Med. 2023 Feb 28;12(5):1920. doi: 10.3390/jcm12051920. J Clin Med. 2023. PMID: 36902710 Free PMC article.
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). Wolfe A, et al. Among authors: marini bettolo c. J Neuromuscul Dis. 2024;11(3):665-677. doi: 10.3233/JND-230211. J Neuromuscul Dis. 2024. PMID: 38427497 Free PMC article.
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
Coratti G, Bovis F, Pera MC, Scoto M, Montes J, Pasternak A, Mayhew A, Muni-Lofra R, Duong T, Rohwer A, Dunaway Young S, Civitello M, Salmin F, Mizzoni I, Morando S, Pane M, Albamonte E, D'Amico A, Brolatti N, Sframeli M, Marini-Bettolo C, Sansone VA, Bruno C, Messina S, Bertini E, Baranello G, Day J, Darras BT, De Vivo DC, Hirano M, Muntoni F, Finkel R, Mercuri E; ISMAC group. Coratti G, et al. Among authors: marini bettolo c. Eur J Neurol. 2024 Aug;31(8):e16309. doi: 10.1111/ene.16309. Epub 2024 Apr 24. Eur J Neurol. 2024. PMID: 38656662 Free PMC article.
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3.
Trucco F, Ridout D, Weststrate H, Scoto M, Rohwer A, Coratti G, Main ML, Mayhew AG, Montes J, De Sanctis R, Pane M, Pera MC, Sansone VA, Albamonte E, D'Amico A, Bruno C, Messina SS, Childs AM, Willis T, Ong MT, Servais L, Majumdar A, Hughes I, Marini-Bettolo C, Parasuraman D, Gowda VL, Baranello G, Bertini ES, De Vivo DC, Darras BT, Day JW, Mayer O, Zolkipli-Cunningham Z, Finkel RS, Mercuri E, Muntoni F; for iSMAc. Trucco F, et al. Among authors: marini bettolo c. Neurol Clin Pract. 2024 Jun;14(3):e200298. doi: 10.1212/CPJ.0000000000200298. Epub 2024 May 17. Neurol Clin Pract. 2024. PMID: 38932995
63 results