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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 3
2006 5
2007 7
2008 13
2009 14
2010 7
2011 12
2012 14
2013 21
2014 20
2015 14
2016 8
2017 13
2018 8
2019 6
2020 17
2021 10
2022 14
2023 22
2024 13

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197 results

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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: yis u. Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254. Brain. 2023. PMID: 37516995 Free PMC article.
Acanthocytosis and HyperCKemia.
Yiş U, Becker K, Yılmaz Ş, Çırak S. Yiş U, et al. Turk J Haematol. 2018 Nov 13;35(4):296-297. doi: 10.4274/tjh.2017.0142. Epub 2017 May 17. Turk J Haematol. 2018. PMID: 28515033 Free PMC article. No abstract available.
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
Armirola-Ricaurte C, Zonnekein N, Koutsis G, Amor-Barris S, Pelayo-Negro AL, Atkinson D, Efthymiou S, Turchetti V, Dinopoulos A, Garcia A, Karakaya M, Moris G, Polat AI, Yiş U, Espinos C, Van de Vondel L, De Vriendt E, Karadima G, Wirth B, Hanna M, Houlden H, Berciano J, Jordanova A. Armirola-Ricaurte C, et al. Among authors: yis u. Genet Med. 2024 Jun;26(6):101117. doi: 10.1016/j.gim.2024.101117. Epub 2024 Mar 6. Genet Med. 2024. PMID: 38459834 Free PMC article.
Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study.
Sarıkaya Uzan G, Vural A, Yüksel D, Aksoy E, Öztoprak Ü, Canpolat M, Öztürk S, Yıldırım Ç, Güleç A, Per H, Gümüş H, Okuyaz Ç, Çobanoğulları Direk M, Kömür M, Ünalp A, Yılmaz Ü, Bektaş Ö, Teber S, Aliyeva N, Olgaç Dündar N, Gençpınar P, Gürkaş E, Keskin Yılmaz S, Kanmaz S, Tekgül H, Aksoy A, Öz Tuncer G, Acar Arslan E, Tosun A, Ayanoğlu M, Kızılırmak AB, Yousefi M, Bodur M, Ünay B, Hız Kurul S, Yiş U. Sarıkaya Uzan G, et al. Among authors: yis u. Pediatr Neurol. 2023 Aug;145:3-10. doi: 10.1016/j.pediatrneurol.2023.04.018. Epub 2023 May 4. Pediatr Neurol. 2023. PMID: 37245275
Optic neuritis in Turkish children and adolescents: A multicenter retrospective study.
Direk MÇ, Besen Ş, Öncel İ, Günbey C, Özdoğan O, Orgun LT, Sahin S, Cansu A, Yıldız N, Kanmaz S, Yılmaz S, Tekgül H, Türkdoğan D, Ünver O, Thomas GÖ, Başıbüyük S, Yılmaz D, Kurt AN, Gültutan P, Özsoy Ö, Yiş U, Kurul SH, Güngör S, Özgör B, Karadağ M, Dündar NO, Gençpınar P, Bildik O, Orak SA, Kabur ÇÇ, Kara B, Karaca Ö, Canpolat M, Gümüş H, Per H, Yılmaz Ü, Karaoğlu P, Ersoy Ö, Tosun A, Öztürk SB, Yüksel D, Atasoy E, Gücüyener K, Yıldırım M, Bektaş Ö, Çavuşoğlu D, Yarar Ç, Güngör O, Mert GG, Sarıgeçili E, Edizer S, Çetin İD, Aydın S, Diler B, Özdemir AA, Erol İ, Okuyaz Ç, Anlar B. Direk MÇ, et al. Among authors: yis u. Mult Scler Relat Disord. 2024 Jan;81:105149. doi: 10.1016/j.msard.2023.105149. Epub 2023 Nov 26. Mult Scler Relat Disord. 2024. PMID: 38096730
A boy with neck weakness.
Yiş U, Becker K, Çırak S. Yiş U, et al. Neuromuscul Disord. 2018 Mar;28(3):236-237. doi: 10.1016/j.nmd.2017.11.016. Epub 2017 Dec 5. Neuromuscul Disord. 2018. PMID: 29339009 No abstract available.
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: yis u. Cerebellum. 2024 Oct;23(5):1950-1965. doi: 10.1007/s12311-024-01690-1. Epub 2024 Apr 15. Cerebellum. 2024. PMID: 38622473 Free PMC article.
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S, Oktay Y, Töpf A, Szabó NZ, Güngör S, Yaramis A, Sonmezler E, Matalonga L, Yis U, Schon K, Paramonov I, Kalafatcilar İP, Gao F, Rieger A, Arslan N, Yilmaz E, Ekinci B, Edem PP, Aslan M, Özgör B, Lochmüller A, Nair A, O'Heir E, Lovgren AK; Broad Center for Mendelian Genomics; Maroofian R, Houlden H, Polavarapu K, Roos A, Müller JS, Hathazi D, Chinnery PF, Laurie S, Beltran S, Lochmüller H, Horvath R. Hiz Kurul S, et al. Among authors: yis u. Brain. 2022 May 24;145(4):1507-1518. doi: 10.1093/brain/awab395. Brain. 2022. PMID: 34791078 Free PMC article.
197 results