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Items: 45

1.

The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype.

Candayan A, Yunisova G, Çakar A, Durmuş H, Başak AN, Parman Y, Battaloğlu E.

Neurogenetics. 2020 Jan;21(1):73-78. doi: 10.1007/s10048-019-00594-1. Epub 2019 Oct 31.

PMID:
31673878
2.

A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).

Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.

Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27.

PMID:
31070812
3.

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.

Tey S, Shahrizaila N, Drew AP, Samulong S, Goh KJ, Battaloglu E, Atkinson D, Parman Y, Jordanova A, Chung KW, Choi BO, Li YC, Auer-Grumbach M, Nicholson GA, Kennerson ML, Ahmad-Annuar A.

Neurogenetics. 2019 Aug;20(3):117-127. doi: 10.1007/s10048-019-00576-3. Epub 2019 Apr 22.

PMID:
31011849
4.

Urethral injury in major trauma.

Battaloglu E, Figuero M, Moran C, Lecky F, Porter K.

Injury. 2019 May;50(5):1053-1057. doi: 10.1016/j.injury.2019.02.016. Epub 2019 Feb 22.

PMID:
30857738
5.

SIK2 attenuates proliferation and survival of breast cancer cells with simultaneous perturbation of MAPK and PI3K/Akt pathways.

Zohrap N, Saatci Ö, Ozes B, Coban I, Atay HM, Battaloglu E, Şahin Ö, Bugra K.

Oncotarget. 2018 Apr 24;9(31):21876-21892. doi: 10.18632/oncotarget.25082. eCollection 2018 Apr 24.

6.

Neonatal Nav1.5 protein expression in normal adult human tissues and breast cancer.

Yamaci RF, Fraser SP, Battaloglu E, Kaya H, Erguler K, Foster CS, Djamgoz MBA.

Pathol Res Pract. 2017 Aug;213(8):900-907. doi: 10.1016/j.prp.2017.06.003. Epub 2017 Jun 6.

PMID:
28698102
7.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H.

Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138.

PMID:
28633435
8.

Warfarin maintenance dose associated with genetic polymorphisms of CYP2C9.

Khaleqsefat E, Khalaj-Kondori M, Jabbarpour B, Battaloğlu E.

Hippokratia. 2017 Apr-Jun;21(2):93-96.

9.

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.

Ozes B, Karagoz N, Schüle R, Rebelo A, Sobrido MJ, Harmuth F, Synofzik M, Pascual SIP, Colak M, Ciftci-Kavaklioglu B, Kara B, Ordóñez-Ugalde A, Quintáns B, Gonzalez MA, Soysal A, Zuchner S, Battaloglu E.

Clin Genet. 2017 Nov;92(5):534-539. doi: 10.1111/cge.13008. Epub 2017 Apr 19.

10.

Management of pregnancy and obstetric complications in prehospital trauma care: prehospital resuscitative hysterotomy/perimortem caesarean section.

Battaloglu E, Porter K.

Emerg Med J. 2017 May;34(5):326-330. doi: 10.1136/emermed-2016-205979. Epub 2017 Mar 7.

PMID:
28270448
11.

Management of pregnancy and obstetric complications in prehospital trauma care: faculty of prehospital care consensus guidelines.

Battaloglu E, Porter K.

Emerg Med J. 2017 May;34(5):318-325. doi: 10.1136/emermed-2016-205978. Epub 2017 Mar 6.

PMID:
28264877
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.

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.

Kancheva D, Atkinson D, De Rijk P, Zimon M, Chamova T, Mitev V, Yaramis A, Maria Fabrizi G, Topaloglu H, Tournev I, Parman Y, Parma Y, Battaloglu E, Estrada-Cuzcano A, Jordanova A.

Genet Med. 2016 Jun;18(6):600-7. doi: 10.1038/gim.2015.139. Epub 2015 Oct 22. Erratum in: Genet Med. 2016 Jan;18(1):108. Parma, Yesim [corrected to Parman, Yesim].

PMID:
26492578
14.

Epidemiology and outcomes of pregnancy and obstetric complications in trauma in the United Kingdom.

Battaloglu E, McDonnell D, Chu J, Lecky F, Porter K.

Injury. 2016 Jan;47(1):184-7. doi: 10.1016/j.injury.2015.08.026. Epub 2015 Aug 22.

PMID:
26404664
15.

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM; Baylor-Hopkins Center for Mendelian Genomics, Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR.

Cell Rep. 2015 Aug 18;12(7):1169-83. doi: 10.1016/j.celrep.2015.07.023. Epub 2015 Aug 6.

16.

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LELM, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ.

Cell. 2014 Sep 25;159(1):200-214. doi: 10.1016/j.cell.2014.09.002.

17.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Zimoń M, Battaloğlu E, Parman Y, Erdem S, Baets J, De Vriendt E, Atkinson D, Almeida-Souza L, Deconinck T, Ozes B, Goossens D, Cirak S, Van Damme P, Shboul M, Voit T, Van Maldergem L, Dan B, El-Khateeb MS, Guergueltcheva V, Lopez-Laso E, Goemans N, Masri A, Züchner S, Timmerman V, Topaloğlu H, De Jonghe P, Jordanova A.

Neurogenetics. 2015 Jan;16(1):33-42. doi: 10.1007/s10048-014-0422-0. Epub 2014 Sep 18.

18.

Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies.

Bayrak AO, Bayrak IK, Battaloglu E, Ozes B, Yildiz O, Onar MK.

Neurol Res. 2015 Feb;37(2):106-11. doi: 10.1179/1743132814Y.0000000411. Epub 2014 Jul 9.

PMID:
25005138
19.

Motor protein mutations cause a new form of hereditary spastic paraplegia.

Caballero Oteyza A, Battaloğlu E, Ocek L, Lindig T, Reichbauer J, Rebelo AP, Gonzalez MA, Zorlu Y, Ozes B, Timmann D, Bender B, Woehlke G, Züchner S, Schöls L, Schüle R.

Neurology. 2014 Jun 3;82(22):2007-16. doi: 10.1212/WNL.0000000000000479. Epub 2014 May 7.

20.

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.

Okamoto Y, Goksungur MT, Pehlivan D, Beck CR, Gonzaga-Jauregui C, Muzny DM, Atik MM, Carvalho CMB, Matur Z, Bayraktar S, Boone PM, Akyuz K, Gibbs RA, Battaloglu E, Parman Y, Lupski JR.

Genet Med. 2014 May;16(5):386-394. doi: 10.1038/gim.2013.155. Epub 2013 Oct 17. Erratum in: Genet Med. 2014 Feb;16(2):203.

21.

Recessively transmitted predominantly motor neuropathies.

Parman Y, Battaloğlu E.

Handb Clin Neurol. 2013;115:847-61. doi: 10.1016/B978-0-444-52902-2.00048-5. Review.

PMID:
23931818
22.

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.

Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z, Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A.

Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9.

PMID:
22961002
23.

Lengthening z-osteotomy of the fibula to correct persistent talar shift following open reduction internal fixation of ankle fractures.

Thangarajah T, Lakdawala A, Battaloglu E, Malik A, Tillu A.

Foot Ankle Spec. 2012 Apr;5(2):107-10. doi: 10.1177/1938640011434509. Epub 2012 Jan 31.

PMID:
22293390
24.

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.

25.

Genetic spectrum of hereditary neuropathies with onset in the first year of life.

Baets J, Deconinck T, De Vriendt E, Zimoń M, Yperzeele L, Van Hoorenbeeck K, Peeters K, Spiegel R, Parman Y, Ceulemans B, Van Bogaert P, Pou-Serradell A, Bernert G, Dinopoulos A, Auer-Grumbach M, Sallinen SL, Fabrizi GM, Pauly F, Van den Bergh P, Bilir B, Battaloglu E, Madrid RE, Kabzińska D, Kochanski A, Topaloglu H, Miller G, Jordanova A, Timmerman V, De Jonghe P.

Brain. 2011 Sep;134(Pt 9):2664-76. doi: 10.1093/brain/awr184. Epub 2011 Aug 11.

26.

Nerve conduction studies in Charcot-Marie-Tooth disease in a cohort from Turkey.

Deymeer F, Matur Z, Poyraz M, Battaloglu E, Oflazer-Serdaroglu P, Parman Y.

Muscle Nerve. 2011 May;43(5):657-64. doi: 10.1002/mus.21932. Epub 2011 Mar 14.

PMID:
21404297
27.

Combination of myotonic dystrophy and hereditary motor and sensory neuropathy.

Kurt S, Karaer H, Kaplan Y, Akat I, Battaloglu E, Eruslu D, Basak AN.

J Neurol Sci. 2010 Jan 15;288(1-2):197-9. doi: 10.1016/j.jns.2009.09.028. Epub 2009 Oct 21.

PMID:
19846120
28.

Low dose vincristine-induced severe polyneuropathy in a Hodgkin lymphoma patient: a case report (vincristine-induced severe polyneuropathy).

Cil T, Altintas A, Tamam Y, Battaloğlu E, Isikdogan A.

J Pediatr Hematol Oncol. 2009 Oct;31(10):787-9. doi: 10.1097/MPH.0b013e3181b530ad.

PMID:
19770686
29.

A multiplexed ARMS-PCR approach for the detection of common MECP2 mutations.

Baris I, Battaloglu E.

Genet Test Mol Biomarkers. 2009 Feb;13(1):19-22. doi: 10.1089/gtmb.2008.0051.

PMID:
19309269
30.

Hereditary neuropathy with liability to pressure palsy (HNPP) in childhood: a case study emphasizing the relevance of detailed electrophysiological examination for suspected HNPP in the first decade.

Bayrak AO, Battaloglu E, Turker H, Baris I, Oztas G.

Brain Dev. 2009 Jun;31(6):445-8. doi: 10.1016/j.braindev.2008.07.002. Epub 2008 Aug 29.

PMID:
18760885
31.

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.

Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Krüttgen A, Rudnik-Schöneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J.

Am J Hum Genet. 2007 Jul;81(1):158-64. Epub 2007 May 24.

32.

X-linked Charcot-Marie-Tooth disease and multiple sclerosis.

Parman Y, Ciftci F, Poyraz M, Halefoglu AM, Oge AE, Eraksoy M, Saruhan-Direskeneli G, Deymeer F, Battaloglu E.

J Neurol. 2007 Jul;254(7):953-5. Epub 2007 Jan 30. No abstract available.

PMID:
17468966
33.

A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.

Baris I, Arisoy AE, Smith A, Agostini M, Mitchell CS, Park SM, Halefoglu AM, Zengin E, Chatterjee VK, Battaloglu E.

J Clin Endocrinol Metab. 2006 Oct;91(10):4183-7. Epub 2006 Aug 1.

PMID:
16882747
34.

A large family with Charcot-Marie-Tooth Type 1a and Type 2 diabetes mellitus.

Koç F, Sarica Y, Yerdelen D, Baris I, Battaloglu E, Sert M.

Int J Neurosci. 2006 Feb;116(2):103-14.

PMID:
16393877
35.

Voltage-gated sodium channel expression and potentiation of human breast cancer metastasis.

Fraser SP, Diss JK, Chioni AM, Mycielska ME, Pan H, Yamaci RF, Pani F, Siwy Z, Krasowska M, Grzywna Z, Brackenbury WJ, Theodorou D, Koyutürk M, Kaya H, Battaloglu E, De Bella MT, Slade MJ, Tolhurst R, Palmieri C, Jiang J, Latchman DS, Coombes RC, Djamgoz MB.

Clin Cancer Res. 2005 Aug 1;11(15):5381-9. Erratum in: Clin Cancer Res. 2005 Nov 15;11(22):8224.

36.

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

Parman Y, Battaloglu E, Baris I, Bilir B, Poyraz M, Bissar-Tadmouri N, Williams A, Ammar N, Nelis E, Timmerman V, De Jonghe P, Najafov A, Deymeer F, Serdaroglu P, Brophy PJ, Said G.

Brain. 2004 Nov;127(Pt 11):2540-50. Epub 2004 Oct 6. Erratum in: Brain. 2007 Jul;130(7):1972. Necefov, Ayaz [corrected to Najafov, Ayaz].

PMID:
15469949
37.

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene.

Bissar-Tadmouri N, Nelis E, Züchner S, Parman Y, Deymeer F, Serdaroglu P, De Jonghe P, Van Gerwen V, Timmerman V, Schröder JM, Battaloglu E.

Neurology. 2004 May 11;62(9):1522-5.

PMID:
15136675
38.

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

Züchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battaloglu E, Polyakov AV, Timmerman V, Schröder JM, Vance JM.

Nat Genet. 2004 May;36(5):449-51. Epub 2004 Apr 4. No abstract available. Erratum in: Nat Genet. 2004 Jun;36(6):660. Battologlu E [corrected to Battaloglu E].

PMID:
15064763
39.

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Müller-Felber W, Rizzuto N, Fabrizi GM, Stuhrmann M, Rudnik-Schöneborn S, Züchner S, Michael Schröder J, Buchheim E, Straub V, Klepper J, Huehne K, Rautenstrauss B, Büttner R, Nelis E, Zerres K.

Am J Hum Genet. 2003 Nov;73(5):1106-19. Epub 2003 Oct 21.

40.

Charcot-Marie-Tooth disease associated with Type 2 diabetes mellitus.

Celik M, Forta H, Parman Y, Bissar-Tadmouri N, Demirkirkan K, Battaloglu E.

Diabet Med. 2001 Aug;18(8):685-6. No abstract available.

PMID:
11553211
41.

Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians.

Onengüt S, Kavaslar GN, Battaloğlu E, Serdaroğlu P, Deymeer F, Ozdemir C, Calafell F, Tolun A.

Ann Hum Genet. 2000 Jan;64(Pt 1):33-40.

42.

Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients.

Bissar-Tadmouri N, Parman Y, Boutrand L, Deymeer F, Serdaroglu P, Vandenberghe A, Battaloglu E.

Clin Genet. 2000 Nov;58(5):396-402.

PMID:
11140841
43.

Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins].

Bissar-Tadmouri N, Gulsen-Parman Y, Latour P, Deymeer F, Serdaroglu P, Vandenberghe A, Battaloglu E.

Hum Mutat. 1999 Nov;14(5):449. No abstract available.

PMID:
10533074
44.

DNA analysis in Turkish Duchenne/Becker muscular dystrophy families.

Battaloğlu E, Telatar M, Deymeer F, Serdaroğlu P, Kuseyri F, Ozdemir C, Apak M, Tolun A.

Hum Genet. 1992 Aug;89(6):635-9.

PMID:
1355068
45.

Carrier detection by DNA analysis in Duchenne muscular dystrophy families.

Battaloğlu E, Telatar M, Deymeer F, Serdaroğlu P, Ozdemir C, Kuseyri F, Apak MY, Tolun A.

Turk J Pediatr. 1992 Apr-Jun;34(2):79-92.

PMID:
1440954

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