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Page 1
Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1.
Panicucci C, Casalini S, Traverso M, Brolatti N, Baratto S, Raffaghello L, Pedemonte M, Doglio L, Derchi M, Tasca G, Damasio BM, Fiorillo C, Bruno C. Panicucci C, et al. Among authors: brolatti n. Neuropediatrics. 2023 Dec;54(6):426-429. doi: 10.1055/s-0043-1768989. Epub 2023 May 31. Neuropediatrics. 2023. PMID: 37257496 Free article. Review.
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. 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.
Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel.
Imbrici P, Accogli A, Blunck R, Altamura C, Iacomino M, D'adamo MC, Allegri A, Pedemonte M, Brolatti N, Vari S, Cataldi M, Capra V, Gustincich S, Zara F, Desaphy JF, Fiorillo C. Imbrici P, et al. Among authors: brolatti n. Biomedicines. 2021 Jan 14;9(1):75. doi: 10.3390/biomedicines9010075. Biomedicines. 2021. PMID: 33466780 Free PMC article.
Risdiplam in Type 1 Spinal Muscular Atrophy.
Baranello G, Darras BT, Day JW, Deconinck N, Klein A, Masson R, Mercuri E, Rose K, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Seabrook T, Fontoura P, Servais L; FIREFISH Working Group. Baranello G, et al. N Engl J Med. 2021 Mar 11;384(10):915-923. doi: 10.1056/NEJMoa2009965. Epub 2021 Feb 24. N Engl J Med. 2021. PMID: 33626251 Clinical Trial.
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
Darras BT, Masson R, Mazurkiewicz-Bełdzińska M, Rose K, Xiong H, Zanoteli E, Baranello G, Bruno C, Vlodavets D, Wang Y, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Fontoura P, Servais L; FIREFISH Working Group. Darras BT, et al. N Engl J Med. 2021 Jul 29;385(5):427-435. doi: 10.1056/NEJMoa2102047. N Engl J Med. 2021. PMID: 34320287
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial.
Mercuri E, Muntoni F, Baranello G, Masson R, Boespflug-Tanguy O, Bruno C, Corti S, Daron A, Deconinck N, Servais L, Straub V, Ouyang H, Chand D, Tauscher-Wisniewski S, Mendonca N, Lavrov A; STR1VE-EU study group. Mercuri E, et al. Lancet Neurol. 2021 Oct;20(10):832-841. doi: 10.1016/S1474-4422(21)00251-9. Lancet Neurol. 2021. PMID: 34536405 Clinical Trial.
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. Ferrantini G, et al. Among authors: brolatti n. Eur J Pediatr. 2022 May;181(5):1923-1932. doi: 10.1007/s00431-021-04325-3. Epub 2022 Jan 19. Eur J Pediatr. 2022. PMID: 35048179 Free PMC article.
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. Pane M, et al. Among authors: brolatti n. Ann Clin Transl Neurol. 2022 Mar;9(3):404-409. doi: 10.1002/acn3.51514. Epub 2022 Feb 15. Ann Clin Transl Neurol. 2022. PMID: 35166467 Free PMC article.
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment.
Fiorillo C, Capodivento G, Geroldi A, Tozza S, Moroni I, Mohassel P, Cataldi M, Campana C, Morando S, Panicucci C, Pedemonte M, Brolatti N, Siliquini S, Traverso M, Baratto S, Debellis D, Magri S, Prada V, Bellone E, Salpietro V, Donkervoort S, Gable K, Gupta SD, Dunn TM, Bönnemann CG, Taroni F, Bruno C, Schenone A, Mandich P, Nobbio L, Nolano M. Fiorillo C, et al. Among authors: brolatti n. Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12842. doi: 10.1111/nan.12842. Epub 2022 Aug 10. Neuropathol Appl Neurobiol. 2022. PMID: 35904184 Free PMC article.
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial.
Masson R, Mazurkiewicz-Bełdzińska M, Rose K, Servais L, Xiong H, Zanoteli E, Baranello G, Bruno C, Day JW, Deconinck N, Klein A, Mercuri E, Vlodavets D, Wang Y, Dodman A, El-Khairi M, Gorni K, Jaber B, Kletzl H, Gaki E, Fontoura P, Darras BT; FIREFISH Study Group. Masson R, et al. Lancet Neurol. 2022 Dec;21(12):1110-1119. doi: 10.1016/S1474-4422(22)00339-8. Epub 2022 Oct 14. Lancet Neurol. 2022. PMID: 36244364 Clinical Trial.
28 results