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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. 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.
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
Nusinersen for children with type I spinal muscular atrophy: 4 years' clinical experience in Turkish cohort.
Bektaş Ö, Gülşen M, Dursun OB, Tekin A, Yüksel D, Demir E, Öztürk G, Saltık S, Hergüler Ö, Özçelik AA, Tan H, Özgör B, Ekici A, Yüksel MF, Şahin S, Duman Ö, Kömür M, Baydan F, Yıldız EP, Kara B, Yiş U, Kanmaz S, Çarman KB, Arslan EA, Canpolat M, Güven AS, Öztuncer G, Ünalp A, Ardıçlı D, Karaduman AA, Zararsız G, Deda G; Turkish SMA Study Group. Bektaş Ö, et al. Among authors: ardicli d. Front Neurol. 2025 Mar 27;16:1541507. doi: 10.3389/fneur.2025.1541507. eCollection 2025. Front Neurol. 2025. PMID: 40212617 Free PMC article.
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum.
Mroczek M, Longman C, Farrugia ME, Kapetanovic Garcia S, Ardicli D, Topaloglu H, Hernández-Laín A, Orhan D, Alikasifoglu M, Duff J, Specht S, Nowak K, Ravenscroft G, Chao K, Valivullah Z, Donkervoort S, Saade D, Bönnemann C, Straub V, Yoon G. Mroczek M, et al. Among authors: ardicli d. J Med Genet. 2022 Nov;59(11):1069-1074. doi: 10.1136/jmedgenet-2021-108341. Epub 2022 Apr 7. J Med Genet. 2022. PMID: 35393337 Free PMC article.
Genetic and clinical spectrum of PIEZO2-related disorders: insights from a multicenter study of 26 patients.
Akinci G, Ozyilmaz B, Ozturk G, Komur M, Onel E, Ardicli D, Gerik-Celebi HB, Ozcelik A, Yilmaz S, Cetin ID, Gunay C, Tuncer GO, Aydin H, Gunes AS, Koken OY, Polat I, Degerliyurt A, Celik T, Cetinoglu YK, Karti O, Sahan S, Karakayali B, Isik E, Elmas M, Sahinoglu B, Bolat H, Karadeniz C, Ceylan AC, Yis U, Turkdogan D, Aksoy A, Temel SG, Topaloglu H. Akinci G, et al. Among authors: ardicli d. Neuromuscul Disord. 2025 Aug;53:105423. doi: 10.1016/j.nmd.2025.105423. Epub 2025 Jun 25. Neuromuscul Disord. 2025. PMID: 40674812
Anti-SRP myositis: a diagnostic and therapeutic challenge.
Polat MC, Ardıçlı D, Çelikel Acar B, Talim B, Şenbil N, Çelikel E. Polat MC, et al. Among authors: ardicli d. Turk J Pediatr. 2024 Dec 19;66(6):792-800. doi: 10.24953/turkjpediatr.2024.4916. Turk J Pediatr. 2024. PMID: 39807736 Free article.
26 results