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Page 1
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Töpf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Çavdarlı B, Semerci Gündüz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yiş U, Topaloğlu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W Jr, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG. Wilson LA, et al. Among authors: topaloglu h. Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254. Brain. 2023. PMID: 37516995 Free PMC article.
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D, Ozturk G, Turkdogan D, Kurul SH, Yis U, Komur M, Incecik F, Kara B, Sahin T, Unver O, Dilber C, Mert GG, Gunay C, Uzan GS, Ersoy O, Oktay Y, Mermer S, Tuncer GO, Gungor O, Ozcora GDK, Gumus U, Sezer O, Cetin GO, Demir F, Yilmaz A, Gurbuz G, Topcu M, Topaloglu H, Ceylan AC, Ceylaner S, Gleeson JG, Icagasioglu DF, Sonmez FM. Cavusoglu D, et al. Among authors: topaloglu h. Cerebellum. 2024 Apr 15. doi: 10.1007/s12311-024-01690-1. Online ahead of print. Cerebellum. 2024. PMID: 38622473
Recurrent vomiting in Panayiotopoulos syndrome.
Fırıloğlu E, Bedir AZ, Topaloğlu HA. Fırıloğlu E, et al. Among authors: topaloglu ha. Acta Neurol Belg. 2024 Jun;124(3):1109-1110. doi: 10.1007/s13760-023-02448-y. Epub 2023 Dec 27. Acta Neurol Belg. 2024. PMID: 38150165 No abstract available.
Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.
Akinci G, Alyaarubi S, Patni N, Alhashmi N, Al-Shidhani A, Prodam F, Gagne N, Babalola F, Al Senani A, Muniraj K, Elsayed SM, Beghini M, Saydam BO, Allawati M, Vaishnav MS, Can E, Simsir IY, Sorkina E, Dursun F, Kamrath C, Cavdar U, Chakraborty PP, Dogan OA, Al Hosin A, Al Maimani A, Comunoglu N, Hamed A, Huseinbegovic T, Scherer T, Curtis J, Brown RJ, Topaloglu H, Simha V, Wabitsch M, Tuysuz B, Oral EA, Akinci B, Garg A. Akinci G, et al. Among authors: topaloglu h. Am J Med Genet A. 2024 Jun;194(6):e63533. doi: 10.1002/ajmg.a.63533. Epub 2024 Jan 17. Am J Med Genet A. 2024. PMID: 38234231
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
van Doorn PA, Van den Bergh PYK, Hadden RDM, Avau B, Vankrunkelsven P, Attarian S, Blomkwist-Markens PH, Cornblath DR, Goedee HS, Harbo T, Jacobs BC, Kusunoki S, Lehmann HC, Lewis RA, Lunn MP, Nobile-Orazio E, Querol L, Rajabally YA, Umapathi T, Topaloglu HA, Willison HJ. van Doorn PA, et al. Among authors: topaloglu ha. Eur J Neurol. 2023 Dec;30(12):3646-3674. doi: 10.1111/ene.16073. Epub 2023 Oct 10. Eur J Neurol. 2023. PMID: 37814552
European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome.
van Doorn PA, Van den Bergh PYK, Hadden RDM, Avau B, Vankrunkelsven P, Attarian S, Blomkwist-Markens PH, Cornblath DR, Goedee HS, Harbo T, Jacobs BC, Kusunoki S, Lehmann HC, Lewis RA, Lunn MP, Nobile-Orazio E, Querol L, Rajabally YA, Umapathi T, Topaloglu HA, Willison HJ. van Doorn PA, et al. Among authors: topaloglu ha. J Peripher Nerv Syst. 2023 Dec;28(4):535-563. doi: 10.1111/jns.12594. Epub 2023 Oct 10. J Peripher Nerv Syst. 2023. PMID: 37814551 Review.
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study.
Crawford TO, Swoboda KJ, De Vivo DC, Bertini E, Hwu WL, Finkel RS, Kirschner J, Kuntz NL, Nazario AN, Parsons JA, Pechmann A, Ryan MM, Butterfield RJ, Topaloglu H, Ben-Omran T, Sansone VA, Jong YJ, Shu F, Zhu C, Raynaud S, Lago TR, Paradis AD, Foster R, Chin R, Berger Z; NURTURE Study Group. Crawford TO, et al. Among authors: topaloglu h. Muscle Nerve. 2023 Aug;68(2):157-170. doi: 10.1002/mus.27853. Epub 2023 Jul 6. Muscle Nerve. 2023. PMID: 37409780
334 results