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Page 1
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
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
Mercuri E, Deconinck N, Mazzone ES, Nascimento A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW; SUNFISH Study Group. Mercuri E, et al. Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Lancet Neurol. 2022. PMID: 34942136
Myelin oligodendrocyte glycoprotein antibodies in genetic leukodystrophies.
Eroglu-Ertugrul NG, Yousefi M, Pekgül F, Doran T, Günbey C, Topcu M, Oguz KK, Ozkara HA, Vural A, Anlar B. Eroglu-Ertugrul NG, et al. J Neuroimmunol. 2022 Aug 15;369:577916. doi: 10.1016/j.jneuroim.2022.577916. Epub 2022 Jun 10. J Neuroimmunol. 2022. PMID: 35752102
ATP8A2-related disorders as recessive cerebellar ataxia.
Guissart C, Harrison AN, Benkirane M, Oncel I, Arslan EA, Chassevent AK, Baraῆano K, Larrieu L, Iascone M, Tenconi R, Claustres M, Eroglu-Ertugrul N, Calvas P, Topaloglu H, Molday RS, Koenig M. Guissart C, et al. Among authors: eroglu ertugrul n. J Neurol. 2020 Jan;267(1):203-213. doi: 10.1007/s00415-019-09579-4. Epub 2019 Oct 14. J Neurol. 2020. PMID: 31612321 Free article.
Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives.
Pekgül F, Eroğlu-Ertuğrul NG, Bekircan-Kurt CE, Erdem-Ozdamar S, Çetinkaya A, Tan E, Konuşkan B, Karaağaoğlu E, Topçu M, Akarsu NA, Oguz KK, Anlar B, Özkara HA. Pekgül F, et al. Among authors: eroglu ertugrul ng. Mol Genet Metab Rep. 2020 Dec 11;25:100688. doi: 10.1016/j.ymgmr.2020.100688. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33335837 Free PMC article.
Novel insights into diabetes mellitus due to DNAJC3-defect: Evolution of neurological and endocrine phenotype in the pediatric age group.
Ozon ZA, Alikasifoglu A, Kandemir N, Aydin B, Gonc EN, Karaosmanoglu B, Celik NB, Eroglu-Ertugrul NG, Taskiran EZ, Haliloglu G, Oguz KK, Kiper PO, Yalnizoglu D, Utine GE, Alikasifoglu M. Ozon ZA, et al. Among authors: eroglu ertugrul ng. Pediatr Diabetes. 2020 Nov;21(7):1176-1182. doi: 10.1111/pedi.13098. Epub 2020 Sep 10. Pediatr Diabetes. 2020. PMID: 32738013
11 results