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

Year Number of Results
1985 2
1986 1
1988 1
1990 1
1991 3
1992 4
1993 8
1994 7
1995 4
1996 6
1997 2
1998 2
1999 6
2000 6
2001 2
2002 6
2003 7
2004 12
2005 9
2006 3
2007 7
2008 8
2009 6
2010 7
2011 3
2012 9
2013 5
2014 12
2015 12
2016 5
2017 5
2018 8
2019 11
2020 11
2021 7
2022 12
2023 7
2024 5

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209 results

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Page 1
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics; Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Bachmann-Gagescu R, et al. Among authors: topcu m. J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19. J Med Genet. 2015. PMID: 26092869 Free PMC article.
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.
Tărlungeanu DC, Deliu E, Dotter CP, Kara M, Janiesch PC, Scalise M, Galluccio M, Tesulov M, Morelli E, Sonmez FM, Bilguvar K, Ohgaki R, Kanai Y, Johansen A, Esharif S, Ben-Omran T, Topcu M, Schlessinger A, Indiveri C, Duncan KE, Caglayan AO, Gunel M, Gleeson JG, Novarino G. Tărlungeanu DC, et al. Among authors: topcu m. Cell. 2016 Dec 1;167(6):1481-1494.e18. doi: 10.1016/j.cell.2016.11.013. Cell. 2016. PMID: 27912058 Free PMC article.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
Management Strategies for CLN2 Disease.
Williams RE, Adams HR, Blohm M, Cohen-Pfeffer JL, de Los Reyes E, Denecke J, Drago K, Fairhurst C, Frazier M, Guelbert N, Kiss S, Kofler A, Lawson JA, Lehwald L, Leung MA, Mikhaylova S, Mink JW, Nickel M, Shediac R, Sims K, Specchio N, Topcu M, von Löbbecke I, West A, Zernikow B, Schulz A. Williams RE, et al. Among authors: topcu m. Pediatr Neurol. 2017 Apr;69:102-112. doi: 10.1016/j.pediatrneurol.2017.01.034. Epub 2017 Feb 4. Pediatr Neurol. 2017. PMID: 28335910 Free article. Review.
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. Among authors: topcu m. J Neuroimmunol. 2022 Aug 15;369:577916. doi: 10.1016/j.jneuroim.2022.577916. Epub 2022 Jun 10. J Neuroimmunol. 2022. PMID: 35752102
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: topcu m. 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.
Neurologic Involvement in Primary Immunodeficiency Disorders.
Yildirim M, Ayvaz DC, Konuskan B, Gocmen R, Tezcan I, Topcu M, Topaloglu H, Anlar B. Yildirim M, et al. Among authors: topcu m. J Child Neurol. 2018 Apr;33(5):320-328. doi: 10.1177/0883073817754176. Epub 2018 Feb 8. J Child Neurol. 2018. PMID: 29421957
Comparison of two different bone anchored hearing instruments.
Kara A, Kalcioglu MT, Adigul Ç, Topcu MT, Koçoğlu M, Celik B, Yilmaz MS. Kara A, et al. Among authors: topcu mt. Eur Arch Otorhinolaryngol. 2023 May;280(5):2141-2147. doi: 10.1007/s00405-022-07675-2. Epub 2022 Oct 10. Eur Arch Otorhinolaryngol. 2023. PMID: 36214870
Management of CLN1 Disease: International Clinical Consensus.
Augustine EF, Adams HR, de Los Reyes E, Drago K, Frazier M, Guelbert N, Laine M, Levin T, Mink JW, Nickel M, Peifer D, Schulz A, Simonati A, Topcu M, Turunen JA, Williams R, Wirrell EC, King S. Augustine EF, et al. Among authors: topcu m. Pediatr Neurol. 2021 Jul;120:38-51. doi: 10.1016/j.pediatrneurol.2021.04.002. Epub 2021 Apr 9. Pediatr Neurol. 2021. PMID: 34000449 Free article.
209 results