Topcu M - Search Results

1

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S, Bayly MA, Joensuu T, Canafoglia L, Franceschetti S, Michelucci R, Markkinen S, Heron SE, Hildebrand MS, Andermann E, Andermann F, Gambardella A, Tinuper P, Licchetta L, Scheffer IE, Criscuolo C, Filla A, Ferlazzo E, Ahmad J, Ahmad A, Baykan B, Said E, Topcu M, Riguzzi P, King MD, Ozkara C, Andrade DM, Engelsen BA, Crespel A, Lindenau M, Lohmann E, Saletti V, Massano J, Privitera M, Espay AJ, Kauffmann B, Duchowny M, Møller RS, Straussberg R, Afawi Z, Ben-Zeev B, Samocha KE, Daly MJ, Petrou S, Lerche H, Palotie A, Lehesjoki AE. Muona M, et al. Among authors: topcu m. Nat Genet. 2015 Jan;47(1):39-46. doi: 10.1038/ng.3144. Epub 2014 Nov 17. Nat Genet. 2015. PMID: 25401298 Free PMC article.

2

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

Serratosa JM, Gómez-Garre P, Gallardo ME, Anta B, de Bernabé DB, Lindhout D, Augustijn PB, Tassinari CA, Malafosse RM, Topcu M, Grid D, Dravet C, Berkovic SF, de Córdoba SR. Serratosa JM, et al. Among authors: topcu m. Hum Mol Genet. 1999 Feb;8(2):345-52. doi: 10.1093/hmg/8.2.345. Hum Mol Genet. 1999. PMID: 9931343

3

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.

Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA. Sheen VL, et al. Among authors: topcu m. Nat Genet. 2004 Jan;36(1):69-76. doi: 10.1038/ng1276. Epub 2003 Nov 30. Nat Genet. 2004. PMID: 14647276

4

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy.

Ranta S, Topcu M, Tegelberg S, Tan H, Ustübütün A, Saatci I, Dufke A, Enders H, Pohl K, Alembik Y, Mitchell WA, Mole SE, Lehesjoki AE. Ranta S, et al. Among authors: topcu m. Hum Mutat. 2004 Apr;23(4):300-5. doi: 10.1002/humu.20018. Hum Mutat. 2004. PMID: 15024724

5

Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.

Siintola E, Topcu M, Kohlschütter A, Salonen T, Joensuu T, Anttonen AK, Lehesjoki AE. Siintola E, et al. Among authors: topcu m. Clin Genet. 2005 Aug;68(2):167-73. doi: 10.1111/j.1399-0004.2005.00471.x. Clin Genet. 2005. PMID: 15996215

6

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA. Piao X, et al. Among authors: topcu m. Ann Neurol. 2005 Nov;58(5):680-7. doi: 10.1002/ana.20616. Ann Neurol. 2005. PMID: 16240336

7

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. Siintola E, et al. Among authors: topcu m. Am J Hum Genet. 2007 Jul;81(1):136-46. doi: 10.1086/518902. Epub 2007 May 14. Am J Hum Genet. 2007. PMID: 17564970 Free PMC article.

8

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE. Kousi M, et al. Among authors: topcu m. Brain. 2009 Mar;132(Pt 3):810-9. doi: 10.1093/brain/awn366. Epub 2009 Feb 5. Brain. 2009. PMID: 19201763

9

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.

Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. Yu TW, et al. Among authors: topcu m. Nat Genet. 2010 Nov;42(11):1015-20. doi: 10.1038/ng.683. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890278 Free PMC article.

10

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.

Kousi M, Anttila V, Schulz A, Calafato S, Jakkula E, Riesch E, Myllykangas L, Kalimo H, Topçu M, Gökben S, Alehan F, Lemke JR, Alber M, Palotie A, Kopra O, Lehesjoki AE. Kousi M, et al. Among authors: topcu m. J Med Genet. 2012 Jun;49(6):391-9. doi: 10.1136/jmedgenet-2012-100859. J Med Genet. 2012. PMID: 22693283 Free PMC article.

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