Topçu M - Search Results

1

MRI as diagnostic tool in early-onset peroxisomal disorders.

van der Knaap MS, Wassmer E, Wolf NI, Ferreira P, Topçu M, Wanders RJ, Waterham HR, Ferdinandusse S. van der Knaap MS, et al. Among authors: topcu m. Neurology. 2012 Apr 24;78(17):1304-8. doi: 10.1212/WNL.0b013e31825182dc. Epub 2012 Mar 28. Neurology. 2012. PMID: 22459681 Free article.

2

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.

Gootjes J, Schmohl F, Mooijer PA, Dekker C, Mandel H, Topcu M, Huemer M, Von Schütz M, Marquardt T, Smeitink JA, Waterham HR, Wanders RJ. Gootjes J, et al. Among authors: topcu m. Hum Mutat. 2004 Aug;24(2):130-9. doi: 10.1002/humu.20062. Hum Mutat. 2004. PMID: 15241794

3

Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease.

Topçu M, Erdem G, Saatçi I, Aktan G, Simşek A, Renda Y, Schutgens RB, Wanders RJ, Jacobs C. Topçu M, et al. J Child Neurol. 1996 Sep;11(5):373-7. doi: 10.1177/088307389601100505. J Child Neurol. 1996. PMID: 8877604

4

L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.

Topçu M, Jobard F, Halliez S, Coskun T, Yalçinkayal C, Gerceker FO, Wanders RJ, Prud'homme JF, Lathrop M, Ozguc M, Fischer J. Topçu M, et al. Hum Mol Genet. 2004 Nov 15;13(22):2803-11. doi: 10.1093/hmg/ddh300. Epub 2004 Sep 22. Hum Mol Genet. 2004. PMID: 15385440

5

Leigh syndrome in a 3-year-old boy with unusual brain MR imaging and pathologic findings.

Topçu M, Saatci I, Apak RA, Söylemezoglu F, Akçören Z. Topçu M, et al. AJNR Am J Neuroradiol. 2000 Jan;21(1):224-7. AJNR Am J Neuroradiol. 2000. PMID: 10669255 Free PMC article.

6

Developmental abnormalities and mental retardation: diagnostic strategy.

Topcu M, Yalnizoğlu D. Topcu M, et al. Handb Clin Neurol. 2013;111:211-7. doi: 10.1016/B978-0-444-52891-9.00021-X. Handb Clin Neurol. 2013. PMID: 23622166 Review.

7

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

8

Autosomal recessive form of periventricular heterotopia.

Sheen VL, Topçu M, Berkovic S, Yalnizoglu D, Blatt I, Bodell A, Hill RS, Ganesh VS, Cherry TJ, Shugart YY, Walsh CA. Sheen VL, et al. Among authors: topcu m. Neurology. 2003 Apr 8;60(7):1108-12. doi: 10.1212/01.wnl.0000055898.00349.02. Neurology. 2003. PMID: 12682315

9

Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation.

Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA. Chang BS, et al. Among authors: topcu m. Neurology. 2004 May 25;62(10):1722-8. doi: 10.1212/01.wnl.0000125187.52952.e9. Neurology. 2004. PMID: 15159468 Review.

10

Unraveling neuronal ceroid lipofuscinosis type 2 (CLN2) disease: A tertiary center experience for determinants of diagnostic delay.

Ardicli D, Haliloglu G, Gocmen R, Gunbey C, Topcu M. Ardicli D, et al. Among authors: topcu m. Eur J Paediatr Neurol. 2021 Jul;33:94-98. doi: 10.1016/j.ejpn.2021.05.015. Epub 2021 Jun 4. Eur J Paediatr Neurol. 2021. PMID: 34119739

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