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Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen.
Sansone VA, Coratti G, Pera MC, Pane M, Messina S, Salmin F, Albamonte E, De Sanctis R, Sframeli M, Di Bella V, Morando S, d'Amico A, Frongia AL, Antonaci L, Pirola A, Pedemonte M, Bertini E, Bruno C, Mercuri E; Italian ISMAC group. Sansone VA, et al. Among authors: frongia al. Eur J Neurol. 2021 Feb;28(2):602-608. doi: 10.1111/ene.14567. Epub 2020 Oct 31. Eur J Neurol. 2021. PMID: 33012052 Free article.
Long-term progression in type II spinal muscular atrophy: A retrospective observational study.
Mercuri E, Lucibello S, Pera MC, Carnicella S, Coratti G, de Sanctis R, Messina S, Mazzone E, Forcina N, Fanelli L, Norcia G, Antonaci L, Frongia AL, Pane M. Mercuri E, et al. Among authors: frongia al. Neurology. 2019 Sep 24;93(13):e1241-e1247. doi: 10.1212/WNL.0000000000008166. Epub 2019 Aug 26. Neurology. 2019. PMID: 31451515 Free PMC article.
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. Mercuri E, et al. Neuromuscul Disord. 2019 Oct;29(10):794-799. doi: 10.1016/j.nmd.2019.08.014. Epub 2019 Aug 29. Neuromuscul Disord. 2019. PMID: 31558335
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. Messina S, et al. Among authors: frongia al. Neuromuscul Disord. 2019 Dec;29(12):940-950. doi: 10.1016/j.nmd.2019.10.001. Epub 2019 Oct 22. Neuromuscul Disord. 2019. PMID: 31791871 Review.
Clinical Variability in Spinal Muscular Atrophy Type III.
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, Bettolo CM, 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. Coratti G, et al. Ann Neurol. 2020 Dec;88(6):1109-1117. doi: 10.1002/ana.25900. Epub 2020 Oct 2. Ann Neurol. 2020. PMID: 32926458
A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy.
D'Amico A, Fattori F, Nicita F, Barresi S, Tasca G, Verardo M, Pizzi S, Moroni I, De Mitri F, Frongia A, Pane M, Mercuri E, Tartaglia M, Bertini E. D'Amico A, et al. Front Genet. 2020 Sep 18;11:565868. doi: 10.3389/fgene.2020.565868. eCollection 2020. Front Genet. 2020. PMID: 33193651 Free PMC article.
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. Coratti G, et al. Among authors: frongia al. Neuromuscul Disord. 2021 Jul;31(7):596-602. doi: 10.1016/j.nmd.2021.03.012. Epub 2021 Apr 2. Neuromuscul Disord. 2021. PMID: 34099377
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy.
Pera MC, Coratti G, Bovis F, Pane M, Pasternak A, Montes J, Sansone VA, Dunaway Young S, Duong T, Messina S, Mizzoni I, D'Amico A, Civitello M, Glanzman AM, Bruno C, Salmin F, Morando S, De Sanctis R, Sframeli M, Antonaci L, Frongia AL, Rohwer A, Scoto M, De Vivo DC, Darras BT, Day J, Martens W, Patanella KA, Bertini E, Muntoni F, Finkel R, Mercuri E; iSMAC group. Pera MC, et al. Among authors: frongia al. Ann Clin Transl Neurol. 2021 Aug;8(8):1622-1634. doi: 10.1002/acn3.51411. Epub 2021 Jun 24. Ann Clin Transl Neurol. 2021. PMID: 34165911 Free PMC article.
Different trajectories in upper limb and gross motor function in spinal muscular atrophy.
Coratti G, Pera MC, Montes J, Pasternak A, Scoto M, Baranello G, Messina S, Dunaway Young S, Glanzman AM, Duong T, De Sanctis R, Mazzone ES, Milev E, Rohwer A, Civitello M, Pane M, Antonaci L, Frongia AL, Sframeli M, Vita GL, DʼAmico A, Mizzoni I, Albamonte E, Darras BT, Bertini E, Sansone VA, Bovis F, Day J, Bruno C, Muntoni F, De Vivo DC, Finkel R, Mercuri E. Coratti G, et al. Among authors: frongia al. Muscle Nerve. 2021 Nov;64(5):552-559. doi: 10.1002/mus.27384. Epub 2021 Aug 9. Muscle Nerve. 2021. PMID: 34327716 Free PMC article.
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