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83 results

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Page 1
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group. Finkel RS, et al. Among authors: glanzman am. N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752. N Engl J Med. 2017. PMID: 29091570 Free article. Clinical Trial.
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium; Weiss RB. Flanigan KM, et al. Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114. Hum Mutat. 2009. PMID: 19937601 Free PMC article.
The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study.
McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, Glanzman AM; PTC124-GD-007-DMD Study Group; Spiegel R, Barth J, Elfring G, Reha A, Peltz SW. McDonald CM, et al. Among authors: glanzman am. Muscle Nerve. 2013 Sep;48(3):357-68. doi: 10.1002/mus.23905. Epub 2013 Jul 17. Muscle Nerve. 2013. PMID: 23674289 Free PMC article. Clinical Trial.
[No title available]
Montes J, Young SD, Mazzone E, Main M; International Spinal Muscular Atrophy Consortium Clinical Evaluator Working Group. Montes J, et al. Neuromuscul Disord. 2017 Jul 12:S0960-8966(17)30577-1. doi: 10.1016/j.nmd.2017.07.005. Online ahead of print. Neuromuscul Disord. 2017. PMID: 28917631 No abstract available.
Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA.
Coratti G, Civitello M, Rohwer A, Salmin F, Glanzman AM, Montes J, Pasternak A, De Sanctis R, Young SD, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, Albamonte E, D'Amico A, Brolatti N, Pane M, Scoto M, Messina S, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Sansone VA, Day J, Baranello G, Pera MC, Muntoni F, Finkel R, Mercuri E. Coratti G, et al. Among authors: glanzman am. Neuromuscul Disord. 2024 Aug;41:42-50. doi: 10.1016/j.nmd.2024.05.003. Epub 2024 May 9. Neuromuscul Disord. 2024. PMID: 38936290
Balance impairment in pediatric charcot-marie-tooth disease.
Estilow T, Glanzman AM, Burns J, Harrington A, Cornett K, Menezes MP, Shy R, Moroni I, Pagliano E, Pareyson D, Bhandari T, Muntoni F, Laurá M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Troutman G, Bray P, Halaki M, Shy ME, Yum SW; CMTPedS STUDY GROUP. Estilow T, et al. Among authors: glanzman am. Muscle Nerve. 2019 Sep;60(3):242-249. doi: 10.1002/mus.26500. Epub 2019 May 15. Muscle Nerve. 2019. PMID: 31026080 Free PMC article.
Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.
Coratti G, Bovis F, Pera MC, Civitello M, Rohwer A, Salmin F, Glanzman AM, Montes J, Pasternak A, De Sanctis R, Dunaway Young S, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, Albamonte E, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Escudero JE, De Waele L, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Nascimiento Osorio A, Bruno C, Goemans N, Sansone VA, Day J, Baranello G, Muntoni F, Finkel R, Mercuri E; ISMAC/international SMA consortium. Coratti G, et al. Among authors: glanzman am. Eur J Neurol. 2024 Dec;31(12):e16517. doi: 10.1111/ene.16517. Epub 2024 Oct 11. Eur J Neurol. 2024. PMID: 39392101 Free PMC article.
Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen.
Coratti G, Bovis F, Pane M, Pasternak A, Albamonte E, Mizzoni I, Glanzman AM, Morando S, Montes J, Cavallina I, Dunaway Young S, Duong T, Rolle E, Civitello M, De Sanctis R, Bravetti C, Ricci F, Gadaleta G, Mongini T, Sframeli M, Pera MC, Messina S, D'Amico A, Catteruccia M, Brolatti N, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Day J, Sansone VA, Finkel RS, Mercuri E; iSMAC/international SMA consortium. Coratti G, et al. Among authors: glanzman am. Eur J Neurol. 2025 Jul;32(7):e70268. doi: 10.1111/ene.70268. Eur J Neurol. 2025. PMID: 40576143 Free PMC article.
Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module.
Coratti G, Civitello M, Rohwer A, Albamonte E, Montes J, Glanzman AM, Pasternak A, De Sanctis R, Young SD, Duong T, Mizzoni I, Milev E, Sframeli M, Morando S, D'Amico A, Catteruccia M, Brolatti N, Pane M, Scoto M, Messina S, Hirano M, Zolkipli-Cunningham Z, Darras BT, Bertini E, Bruno C, Sansone VA, Salmin F, Day J, Baranello G, Pera MC, Muntoni F, Finkel RS, Mercuri E; International SMA Consortium (iSMAc). Coratti G, et al. Among authors: glanzman am. Neuromuscul Disord. 2024 Nov;44:104449. doi: 10.1016/j.nmd.2024.08.006. Epub 2024 Aug 28. Neuromuscul Disord. 2024. PMID: 39299818 Free article.
Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts.
Pasternak A, McDermott MP, Montes J, Glanzman AM, Coratti G, Dunaway Young S, Duong TT, Martens WB, Day JW, Zolkipli-Cunningham Z, Sansone VA, D'Amico A, Messina S, Bruno C, Mercuri E, De Vivo DC, Darras BT; as the Pediatric Neuromuscular Clinical Research (PNCR) Network and the International SMA Consortium (iSMAc). Pasternak A, et al. Among authors: glanzman am. Neurology. 2025 Jul 22;105(2):e213839. doi: 10.1212/WNL.0000000000213839. Epub 2025 Jun 27. Neurology. 2025. PMID: 40577678
83 results