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Items: 1 to 50 of 69

1.

A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.

Tuncer FN, Iseri SAU, Yapici Z, Demir M, Karaca M, Calik M.

Neurol Sci. 2018 Sep 12. doi: 10.1007/s10072-018-3556-2. [Epub ahead of print]

PMID:
30209698
2.

Adjunctive everolimus for children and adolescents with treatment-refractory seizures associated with tuberous sclerosis complex: post-hoc analysis of the phase 3 EXIST-3 trial.

Curatolo P, Franz DN, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, de Vries PJ, Dlugos DJ, Fan J, Ridolfi A, Pelov D, Voi M, French JA.

Lancet Child Adolesc Health. 2018 Jul;2(7):495-504. doi: 10.1016/S2352-4642(18)30099-3. Epub 2018 May 24.

PMID:
30169322
3.

Investigation of neuronal auto-antibodies in children diagnosed with epileptic encephalopathy of unknown cause.

Tekturk P, Baykan B, Erdag E, Peach S, Sezgin M, Yapici Z, Küçükali Cİ, Vincent A, Tuzun E.

Brain Dev. 2018 Nov;40(10):909-917. doi: 10.1016/j.braindev.2018.06.002. Epub 2018 Jun 21.

PMID:
29935963
4.

DBS in pediatric patients: institutional experience.

Canaz H, Karalok I, Topcular B, Agaoglu M, Yapici Z, Aydin S.

Childs Nerv Syst. 2018 Sep;34(9):1771-1776. doi: 10.1007/s00381-018-3839-1. Epub 2018 May 24.

PMID:
29797064
5.

Everolimus dosing recommendations for tuberous sclerosis complex-associated refractory seizures.

Franz DN, Lawson JA, Yapici Z, Brandt C, Kohrman MH, Wong M, Milh M, Wiemer-Kruel A, Voi M, Coello N, Cheung W, Grosch K, French JA.

Epilepsia. 2018 Jun;59(6):1188-1197. doi: 10.1111/epi.14085. Epub 2018 May 4.

6.

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Çetinçelik Ü, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bošnjak VM, van der Knaap MS; MLC Research Group.

Neurology. 2018 Apr 17;90(16):e1395-e1403. doi: 10.1212/WNL.0000000000005334. Epub 2018 Mar 21.

7.

Pregnancy management and outcome in patients with four different tetrahydrobiopterin disorders.

Kuseyri O, Weissbach A, Bruggemann N, Klein C, Giżewska M, Karall D, Scholl-Bürgi S, Romanowska H, Krzywińska-Zdeb E, Monavari AA, Knerr I, Yapıcı Z, Leuzzi V, Opladen T.

J Inherit Metab Dis. 2018 Sep;41(5):849-863. doi: 10.1007/s10545-018-0169-0. Epub 2018 Mar 28.

PMID:
29594647
8.

A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy.

Akçakaya NH, Yapıcı Z, Tunca Cİ, Tektürk P, Akçimen F, Başak AN.

J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1123-1125. doi: 10.1136/jnnp-2017-317319. Epub 2017 Dec 21. No abstract available.

PMID:
29269506
9.

A case with CMTX1 disease showing transient ischemic-attack-like episodes.

Aktan Z, Akcakaya NH, Tekturk P, Deniz E, Koyuncu B, Yapici Z.

Neurol Neurochir Pol. 2018 Mar;52(2):285-288. doi: 10.1016/j.pjnns.2017.10.016. Epub 2017 Nov 9.

PMID:
29153916
10.

De novo 8p23.1 deletion in a patient with absence epilepsy.

Akcakaya NH, Capan ÖY, Schulz H, Sander T, Caglayan SH, Yapıcı Z.

Epileptic Disord. 2017 Jun 1;19(2):217-221. doi: 10.1684/epd.2017.0906.

11.

Pallidal Stimulation in an 11-Year-Old Boy with Treatment-Resistant Tourette Syndrome.

Kilincaslan A, Aydin S, Kok BE, Akcakaya H, Yapici Z.

J Child Adolesc Psychopharmacol. 2017 Sep;27(7):673-674. doi: 10.1089/cap.2017.0008. Epub 2017 Mar 30. No abstract available.

PMID:
28358600
12.

Clinical and genetic features of PKAN patients in a tertiary centre in Turkey.

Akcakaya NH, Iseri SU, Bilir B, Battaloglu E, Tekturk P, Gultekin M, Akar G, Yigiter R, Hanagasi H, Alp R, Cagirici S, Eraksoy M, Ozbek U, Yapici Z.

Clin Neurol Neurosurg. 2017 Mar;154:34-42. doi: 10.1016/j.clineuro.2017.01.011. Epub 2017 Jan 15.

PMID:
28113101
13.

Characteristics of isolated spinal cord involvement in neurobrucellosis with no corresponding MRI activity: A case report and review of the literature.

Gündüz T, Tektürk PT, Yapıcı Z, Kürtüncü M, Somer A, Törün SH, Eraksoy M.

J Neurol Sci. 2017 Jan 15;372:305-306. doi: 10.1016/j.jns.2016.11.076. Epub 2016 Dec 2. Review. No abstract available.

PMID:
28017234
14.

Beneficial Effects of Everolimus on Autism and Attention-Deficit/Hyperactivity Disorder Symptoms in a Group of Patients with Tuberous Sclerosis Complex.

Kilincaslan A, Kok BE, Tekturk P, Yalcinkaya C, Ozkara C, Yapici Z.

J Child Adolesc Psychopharmacol. 2017 May;27(4):383-388. doi: 10.1089/cap.2016.0100. Epub 2016 Oct 31.

PMID:
27797585
15.

Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation.

Oguz Akarsu E, Tekturk P, Yapici Z, Tepgec F, Uyguner ZO, Baykan B.

Seizure. 2016 Nov;42:49-51. doi: 10.1016/j.seizure.2016.09.007. Epub 2016 Sep 23. No abstract available.

16.

Adjunctive everolimus therapy for treatment-resistant focal-onset seizures associated with tuberous sclerosis (EXIST-3): a phase 3, randomised, double-blind, placebo-controlled study.

French JA, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, Curatolo P, de Vries PJ, Dlugos DJ, Berkowitz N, Voi M, Peyrard S, Pelov D, Franz DN.

Lancet. 2016 Oct 29;388(10056):2153-2163. doi: 10.1016/S0140-6736(16)31419-2. Epub 2016 Sep 6.

17.

Fibromatous lesion of the scalp: is it an underestimated sign of tuberous sclerosis?

Baykal C, Tekturk P, Polat Ekinci A, Buyukbabani N, Baykan B, Yapici Z.

J Eur Acad Dermatol Venereol. 2017 Feb;31(2):e110-e112. doi: 10.1111/jdv.13853. Epub 2016 Aug 13. No abstract available.

PMID:
27521300
18.

The effect of transcranial direct current stimulation on seizure frequency of patients with mesial temporal lobe epilepsy with hippocampal sclerosis.

Tekturk P, Erdogan ET, Kurt A, Vanli-Yavuz EN, Ekizoglu E, Kocagoncu E, Kucuk Z, Aksu S, Bebek N, Yapici Z, Gurses C, Gokyigit A, Baykan B, Karamursel S.

Clin Neurol Neurosurg. 2016 Oct;149:27-32. doi: 10.1016/j.clineuro.2016.07.014. Epub 2016 Jul 12.

PMID:
27450765
19.

A case of hyperkinetic movement disorder associated with LGI1 antibodies.

Erer Özbek S, Yapıcı Z, Tüzün E, Giriş M, Duran S, Taşkapılıoğlu Ö, Okan M.

Turk J Pediatr. 2015 Sep-Oct;57(5):514-7.

PMID:
27411421
20.

Neuronal autoantibodies in patients with Rasmussen's encephalitis.

Samanci B, Tektürk P, Tüzün E, Erdağ E, Kınay D, Yapıcı Z, Baykan B.

Epileptic Disord. 2016 Jun 1;18(2):204-10. doi: 10.1684/epd.2016.0829.

21.

A novel gene mutation in PANK2 in a patient with severe jaw-opening dystonia.

Yapici Z, Akcakaya NH, Tekturk P, Iseri SA, Ozbek U.

Brain Dev. 2016 Sep;38(8):755-8. doi: 10.1016/j.braindev.2016.02.010. Epub 2016 May 13.

PMID:
27185474
22.

A role of autophagy in spinocerebellar ataxia-Rare exception or general principle?

Burmeister M, Lee JH, Schulman BA, Yapici Z, Tolun A, Juhasz G, Li JZ, Klionsky DJ.

Autophagy. 2016 Jul 2;12(7):1208-9. doi: 10.1080/15548627.2016.1170266. Epub 2016 Apr 22. No abstract available.

23.

Atypical enterovirus encephalitis causing behavioral changes and autism-like clinical manifestations: case report.

Akcakaya NH, Tekturk P, Cagatay A, Tur EK, Yapici Z.

Acta Neurol Belg. 2016 Dec;116(4):679-681. Epub 2016 Feb 19. No abstract available.

PMID:
26895551
24.

Transcranial direct current stimulation improves seizure control in patients with Rasmussen encephalitis.

Tekturk P, Erdogan ET, Kurt A, Kocagoncu E, Kucuk Z, Kinay D, Yapici Z, Aksu S, Baykan B, Karamursel S.

Epileptic Disord. 2016 Mar;18(1):58-66. doi: 10.1684/epd.2016.0796.

25.

Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay.

Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M.

Elife. 2016 Jan 26;5. pii: e12245. doi: 10.7554/eLife.12245.

26.

The relationship between Willis-Ekbom disease and serum ferritin levels among children in Northwestern Turkey.

Halac G, Sezer GM, Saglam NO, Tekturk P, Demir AD, Demir S, Akcay F, Uslu A, Yapıcı Z, Asil T.

Neurosciences (Riyadh). 2015 Oct;20(4):336-40. doi: 10.17712/nsj.2015.4.20150268.

27.

Abnormal red cell structure and function in neuroacanthocytosis.

Cluitmans JC, Tomelleri C, Yapici Z, Dinkla S, Bovee-Geurts P, Chokkalingam V, De Franceschi L, Brock R, Bosman GJ.

PLoS One. 2015 May 1;10(5):e0125580. doi: 10.1371/journal.pone.0125580. eCollection 2015.

28.

Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency.

Ortez C, Duarte ST, Ormazábal A, Serrano M, Pérez A, Pons R, Pineda M, Yapici Z, Fernández-Álvarez E, Domingo-Jiménez R, De Castro P, Artuch R, García-Cazorla A.

Mol Genet Metab. 2015 Jan;114(1):34-40. doi: 10.1016/j.ymgme.2014.10.014. Epub 2014 Oct 31.

PMID:
25468651
29.

A decrease of regulatory T cells and altered expression of NK receptors are observed in subacute sclerosing panencephalitis.

Yentur SP, Gurses C, Demirbilek V, Adin-Cinar S, Kuru U, Uysal S, Yapici Z, Yilmaz G, Cokar O, Onal E, Gökyigit A, Saruhan-Direskeneli G.

Viral Immunol. 2014 Dec;27(10):506-11. doi: 10.1089/vim.2014.0070.

PMID:
25379970
30.

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.

Burns R, Majczenko K, Xu J, Peng W, Yapici Z, Dowling JJ, Li JZ, Burmeister M.

Neurology. 2014 Dec 2;83(23):2175-82. doi: 10.1212/WNL.0000000000001053. Epub 2014 Oct 31.

31.

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M.

Am J Hum Genet. 2014 Sep 4;95(3):315-25. doi: 10.1016/j.ajhg.2014.08.003. Epub 2014 Aug 28.

32.

Granzyme B gene polymorphism associated with subacute sclerosing panencephalitis.

Yentur SP, Aydin HN, Gurses C, Demirbilek V, Kuru U, Uysal S, Yapici Z, Baris S, Yilmaz G, Cokar O, Onal E, Gokyigit A, Saruhan-Direskeneli G.

Neuropediatrics. 2014 Oct;45(5):309-13. doi: 10.1055/s-0034-1378129. Epub 2014 May 29.

PMID:
24875585
33.

Inflammatory Demyelinating Diseases of Childhood: Case Report and Literature Review.

Ekizoğlu E, Tektürk Topaloğlu P, Yapici Z, Eraksoy M.

Noro Psikiyatr Ars. 2014 Mar;51(1):74-78. doi: 10.4274/npa.y6304. Epub 2014 Mar 1.

34.

Alterations of red cell membrane properties in neuroacanthocytosis.

Siegl C, Hamminger P, Jank H, Ahting U, Bader B, Danek A, Gregory A, Hartig M, Hayflick S, Hermann A, Prokisch H, Sammler EM, Yapici Z, Prohaska R, Salzer U.

PLoS One. 2013 Oct 3;8(10):e76715. doi: 10.1371/journal.pone.0076715. eCollection 2013.

35.

A close look at EEG in subacute sclerosing panencephalitis.

Demir N, Cokar O, Bolukbasi F, Demirbilek V, Yapici Z, Yalcinkaya C, Direskeneli GS, Yentur S, Onal E, Yilmaz G, Dervent A.

J Clin Neurophysiol. 2013 Aug;30(4):348-56. doi: 10.1097/WNP.0b013e31829ddcb6.

PMID:
23912572
36.

Comparative clinical characteristics of early- and adult-onset multiple sclerosis patients with seizures.

Durmus H, Kurtuncu M, Tuzun E, Pehlivan M, Akman-Demir G, Yapıcı Z, Eraksoy M.

Acta Neurol Belg. 2013 Dec;113(4):421-6. doi: 10.1007/s13760-013-0210-x. Epub 2013 May 22.

PMID:
23696071
37.

The cardiovascular effects of premature ovarian failure.

Yorgun H, Tokgözoğlu L, Canpolat U, Gürses KM, Bozdağ G, Yapıcı Z, Sahiner L, Kaya EB, Kabakçı G, Oto A, Tuncer M, Aytemir K.

Int J Cardiol. 2013 Sep 20;168(1):506-10. doi: 10.1016/j.ijcard.2012.09.197. Epub 2012 Oct 13.

PMID:
23073277
38.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

EPICURE Consortium; EMINet Consortium, Steffens M, Leu C, Ruppert AK, Zara F, Striano P, Robbiano A, Capovilla G, Tinuper P, Gambardella A, Bianchi A, La Neve A, Crichiutti G, de Kovel CG, Kasteleijn-Nolst Trenité D, de Haan GJ, Lindhout D, Gaus V, Schmitz B, Janz D, Weber YG, Becker F, Lerche H, Steinhoff BJ, Kleefuß-Lie AA, Kunz WS, Surges R, Elger CE, Muhle H, von Spiczak S, Ostertag P, Helbig I, Stephani U, Møller RS, Hjalgrim H, Dibbens LM, Bellows S, Oliver K, Mullen S, Scheffer IE, Berkovic SF, Everett KV, Gardiner MR, Marini C, Guerrini R, Lehesjoki AE, Siren A, Guipponi M, Malafosse A, Thomas P, Nabbout R, Baulac S, Leguern E, Guerrero R, Serratosa JM, Reif PS, Rosenow F, Mörzinger M, Feucht M, Zimprich F, Kapser C, Schankin CJ, Suls A, Smets K, De Jonghe P, Jordanova A, Caglayan H, Yapici Z, Yalcin DA, Baykan B, Bebek N, Ozbek U, Gieger C, Wichmann HE, Balschun T, Ellinghaus D, Franke A, Meesters C, Becker T, Wienker TF, Hempelmann A, Schulz H, Rüschendorf F, Leber M, Pauck SM, Trucks H, Toliat MR, Nürnberg P, Avanzini G, Koeleman BP, Sander T.

Hum Mol Genet. 2012 Dec 15;21(24):5359-72. doi: 10.1093/hmg/dds373. Epub 2012 Sep 4.

PMID:
22949513
39.

Prevalence, phenotype and cardiometabolic risk of polycystic ovary syndrome under different diagnostic criteria.

Yildiz BO, Bozdag G, Yapici Z, Esinler I, Yarali H.

Hum Reprod. 2012 Oct;27(10):3067-73. doi: 10.1093/humrep/des232. Epub 2012 Jul 9.

PMID:
22777527
40.

Evaluation of cardiac autonomic function by various indices in patients with primary premature ovarian failure.

Yorgun H, Gürses KM, Canpolat U, Yapıcı Z, Bozdağ G, Kaya EB, Aytemir K, Oto A, Kabakçı G, Tokgözoğlu L.

Clin Res Cardiol. 2012 Sep;101(9):753-9. doi: 10.1007/s00392-012-0455-z. Epub 2012 Apr 12.

PMID:
22527092
41.

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.

Bilir B, Yapici Z, Yalcinkaya C, Baris I, Carvalho CM, Bartnik M, Ozes B, Eraksoy M, Lupski JR, Battaloglu E.

Clin Genet. 2013 Jan;83(1):66-72. doi: 10.1111/j.1399-0004.2012.01846.x. Epub 2012 Feb 20.

42.

A case with hyperkinetic frontal lobe epilepsy presenting as a psychiatric disturbance.

Elmi H, Kilinçaslan A, Oztürk M, Yapici Z.

Turk J Pediatr. 2011 Sep-Oct;53(5):574-8.

PMID:
22272463
43.

Clinical characteristics of pediatric-onset neuro-Behçet disease.

Uluduz D, Kürtüncü M, Yapıcı Z, Seyahi E, Kasapçopur Ö, Özdoğan H, Saip S, Akman-Demir G, Siva A.

Neurology. 2011 Nov 22;77(21):1900-5. doi: 10.1212/WNL.0b013e318238edeb. Epub 2011 Nov 9.

PMID:
22076549
44.

Challenges in diagnosing SSPE.

Erturk O, Karslıgil B, Cokar O, Yapici Z, Demirbilek V, Gurses C, Yalcinkaya C, Gokyigit A, Direskeneli GS, Yentur S, Onal E, Yilmaz G, Dervent A.

Childs Nerv Syst. 2011 Dec;27(12):2041-4. doi: 10.1007/s00381-011-1603-x. Epub 2011 Oct 15.

PMID:
22002104
45.

Five recurrent ectopic pregnancies in a patient with MUC1 expression deficiency.

Bozdag G, Atak ZG, Yapici Z, Demirol A, Usubutun A, Gurgan T.

J Obstet Gynaecol. 2011 Oct;31(7):666-7. doi: 10.3109/01443615.2011.594916. No abstract available.

PMID:
21973150
46.

Is ovarian volume estimation reliable when compared with true volume?

Bozdag G, Salman MC, Mumusoglu S, Yapici Z, Gunalp S.

Am J Obstet Gynecol. 2012 Jan;206(1):44.e1-4. doi: 10.1016/j.ajog.2011.07.020. Epub 2011 Jul 22.

PMID:
21893311
47.

An association analysis at 2q36 reveals a new candidate susceptibility gene for juvenile absence epilepsy and/or absence seizures associated with generalized tonic-clonic seizures.

Yalçin O, Baykan B, Ağan K, Yapici Z, Yalçin D, Dizdarer G, Türkdoğan D, Ozkara C, Unalp A, Uludüz D, Gül G, Kuşcu D, Ayta S, Tutkavul K, Comu S, Tatli B, Meral C, Bebek N, Cağlayan SH.

Epilepsia. 2011 May;52(5):975-83. doi: 10.1111/j.1528-1167.2010.02970.x. Epub 2011 Feb 14.

48.

Prognostic implications of aquaporin-4 antibody status in neuromyelitis optica patients.

Akman-Demir G, Tüzün E, Waters P, Içöz S, Kürtüncü M, Jarius S, Yapıcı Z, Mutlu M, Yeşilot N, Vincent A, Eraksoy M.

J Neurol. 2011 Mar;258(3):464-70. doi: 10.1007/s00415-010-5780-4. Epub 2010 Oct 17.

PMID:
20953960
49.

Use of the International Classification of Headache Disorders, Second Edition, criteria in the diagnosis of primary headache in schoolchildren: epidemiology study from eastern Turkey.

Alp R, Alp SI, Palanci Y, Sur H, Boru UT, Ozge A, Yapici Z.

Cephalalgia. 2010 Jul;30(7):868-77. doi: 10.1177/0333102409355837. Epub 2010 Mar 10.

PMID:
20647179
50.

Analgesic effects of skin-to-skin contact and breastfeeding in procedural pain in healthy term neonates.

Okan F, Ozdil A, Bulbul A, Yapici Z, Nuhoglu A.

Ann Trop Paediatr. 2010;30(2):119-28. doi: 10.1179/146532810X12703902516121.

PMID:
20522298

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