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Items: 1 to 50 of 291

1.

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.

Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H.

Orphanet J Rare Dis. 2019 Jul 16;14(1):179. doi: 10.1186/s13023-019-1119-0.

2.

Is RIRS Safe and Efficient In Patients With Kidney Stones Who Had Previous Open ,Endoscopic,Percutaneous Kidney Stone Surgery? One Center Retrospective Study.

Baylan B, Sari S, Cakici MC, Selmi V, Özdemir H, Ozok HU, Karakoyunlu AN, Topaloglu H, Sagnak AL, Ersoy H.

Urol J. 2019 Jun 22. doi: 10.22037/uj.v0i0.4950. [Epub ahead of print]

3.

Nesprinopathy: A multi-faceted genetic disorder.

Bektaş H, Topaloglu H.

Eur J Paediatr Neurol. 2019 Mar;23(2):231. doi: 10.1016/j.ejpn.2019.02.011. No abstract available.

PMID:
30876648
4.

Fractures and bone health in Duchenne muscular dystrophy in Scotland.

Topaloğlu H.

Neuromuscul Disord. 2019 Apr;29(4):341. doi: 10.1016/j.nmd.2018.11.005. Epub 2018 Nov 17. No abstract available.

PMID:
30803851
5.

Neuromuscular disorders in Anatolia - A personal review.

Topaloğlu H.

Neuromuscul Disord. 2019 Feb;29(2):152-156. doi: 10.1016/j.nmd.2018.12.014. Epub 2018 Dec 28. No abstract available.

PMID:
30744917
6.

Uncontrolled inflammation of the nervous system: Inherited CD59 deficiency.

Yuksel D, Oguz KK, Azapagası E, Kesici S, Cavdarli B, Konuskan B, Topaloglu H.

Neurol Clin Pract. 2018 Oct;8(5):e18-e20. doi: 10.1212/CPJ.0000000000000511. No abstract available.

PMID:
30564502
7.

Mystery Case: Pontine tegmental cap dysplasia in a neonate.

Bilgin N, Parlak S, Şimşek-Kiper PÖ, Topcu M, Topaloglu H.

Neurology. 2018 Nov 27;91(22):e2100-e2101. doi: 10.1212/WNL.0000000000006578. No abstract available.

PMID:
30478078
8.

Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience.

Ardıçlı D, Haliloğlu G, Alikaşifoğlu M, Topaloğlu H.

Neuropediatrics. 2019 Feb;50(1):41-45. doi: 10.1055/s-0038-1675626. Epub 2018 Nov 19.

PMID:
30453357
9.

Prenatal Diagnosis of Merosin-Deficient Muscular Dystrophy.

Fadiloglu E, Ozten G, Unal C, Talim B, Topaloglu H, Beksac MS.

Fetal Pediatr Pathol. 2018 Dec;37(6):418-423. doi: 10.1080/15513815.2018.1520944. Epub 2018 Oct 25.

PMID:
30358464
10.

Assessment of Neurologic Disorders and Rare Intracranial Anomalies Associated With Cleft Lip and Palate.

Kucukguven A, Calis M, Topaloglu H, Ozgur F.

J Craniofac Surg. 2018 Nov;29(8):2195-2197. doi: 10.1097/SCS.0000000000004848.

PMID:
30320680
11.

Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy.

Beksac MS, Tanacan A, Aydin Hakli D, Orgul G, Soyak B, Balci Hayta B, Dincer P, Topaloğlu H.

J Pregnancy. 2018 Jul 30;2018:9718316. doi: 10.1155/2018/9718316. eCollection 2018.

12.

Comparison of Retrograde Intrarenal Surgery and Percutaneous Nephrolithotomy Methods For Management of Big- Sized Kidney Stones(? 4 cm): Single Center Retrospective Study.

Karakoyunlu AN, Cakici MC, Sari S, Hepsen E, Ozok HU, Sagnak AL, Topaloglu H, Senturk AB, Ersoy H.

Urol J. 2019 Jun 17;16(3):232-235. doi: 10.22037/uj.v0i0.4072.

13.

Primary Signet Ring Cell Carcinoma of the Prostate: A Rare Case Report.

Gök A, Tuygun C, Akmansu M, Uslu AA, Kartal IG, Sandikçi F, Karabacak OR, Sağnak AL, Topaloğlu H, Ersoy H.

J Clin Med. 2018 Aug 15;7(8). pii: E218. doi: 10.3390/jcm7080218.

14.

The Association of Encrustation and Ureteral Stent Indwelling Time in Urolithiasis and KUB Grading System.

Kartal IG, Baylan B, Gok A, Sagnak AL, Karakoyunlu N, Cakici MC, Kaymak S, Karabacak OR, Topaloglu H, Ersoy H.

Urol J. 2018 Nov 17;15(6):323-328. doi: 10.22037/uj.v0i0.4592.

15.

Does Tadalafil Increase The Uptake of Finasteride into Prostate Tissue? A Biochemical and Histological Evaluation in Rats.

Gok A, Tuygun C, Türkmenoglu TT, Gök G, Avcioglu G, Nural C, Kartal IG, Sagnak AL, Karabacak OR, Topaloglu H, Imamoglu MA, Ersoy H.

Urol J. 2018 Nov 17;15(6):376-380. doi: 10.22037/uj.v0i0.4468.

16.

Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2.

Laššuthová P, Vill K, Erdem-Ozdamar S, Schröder JM, Topaloglu H, Horvath R, Müller-Felber W, Bansagi B, Schlotter-Weigel B, Gläser D, Neupauerová J, Sedláčková L, Staněk D, Mazanec R, Weis J, Seeman P, Senderek J.

Clin Genet. 2018 Nov;94(5):467-472. doi: 10.1111/cge.13417. Epub 2018 Aug 14.

PMID:
30028002
17.

Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.

Karakaya M, Storbeck M, Strathmann EA, Delle Vedove A, Hölker I, Altmueller J, Naghiyeva L, Schmitz-Steinkrüger L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Polat AI, Okur D, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Yis U, Nürnberg P, Heller R, Wirth B.

Hum Mutat. 2018 Sep;39(9):1284-1298. doi: 10.1002/humu.23560. Epub 2018 Jul 25.

PMID:
29858556
18.

Neurologic Involvement in Primary Immunodeficiency Disorders.

Yildirim M, Ayvaz DC, Konuskan B, Gocmen R, Tezcan I, Topcu M, Topaloglu H, Anlar B.

J Child Neurol. 2018 Apr;33(5):320-328. doi: 10.1177/0883073817754176. Epub 2018 Feb 8.

PMID:
29421957
19.

Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study.

Bora G, Subaşı-Yıldız Ş, Yeşbek-Kaymaz A, Bulut N, Alemdaroğlu İ, Tunca-Yılmaz Ö, Topaloğlu H, Karaduman AA, Erdem-Yurter H.

J Child Neurol. 2018 Mar;33(3):209-215. doi: 10.1177/0883073817750500. Epub 2018 Jan 12.

PMID:
29327642
20.

Electroencephalographic findings in anti-N-methyl-d-aspartate receptor encephalitis in children: A series of 12 patients.

Yildirim M, Konuskan B, Yalnizoglu D, Topaloglu H, Erol I, Anlar B.

Epilepsy Behav. 2018 Jan;78:118-123. doi: 10.1016/j.yebeh.2017.09.022. Epub 2017 Nov 25.

PMID:
29179102
21.

Clinical presentation of anti-N-methyl-d-aspartate receptor and anti-voltage-gated potassium channel complex antibodies in children: A series of 24 cases.

Konuskan B, Yildirim M, Topaloglu H, Erol I, Oztoprak U, Tan H, Gocmen R, Anlar B.

Eur J Paediatr Neurol. 2018 Jan;22(1):135-142. doi: 10.1016/j.ejpn.2017.10.009. Epub 2017 Nov 7.

PMID:
29153996
22.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H.

J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.

23.

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.

Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group.

N Engl J Med. 2017 Nov 2;377(18):1723-1732. doi: 10.1056/NEJMoa1702752.

24.

A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy.

Victor RG, Sweeney HL, Finkel R, McDonald CM, Byrne B, Eagle M, Goemans N, Vandenborne K, Dubrovsky AL, Topaloglu H, Miceli MC, Furlong P, Landry J, Elashoff R, Cox D; Tadalafil DMD Study Group.

Neurology. 2017 Oct 24;89(17):1811-1820. doi: 10.1212/WNL.0000000000004570. Epub 2017 Sep 29.

25.

Neonatal-Onset Recurrent Guillain-Barré Syndrome-Like Disease: Clues for Inherited CD59 Deficiency.

Ardicli D, Taskiran EZ, Kosukcu C, Temucin C, Oguz KK, Haliloglu G, Alikasifoglu M, Topaloglu H.

Neuropediatrics. 2017 Dec;48(6):477-481. doi: 10.1055/s-0037-1604483. Epub 2017 Aug 11. No abstract available.

PMID:
28800659
26.

Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.

Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali GF, Bilen H, Nur B, Demir L, Onay H, Akinci B.

Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1.

PMID:
28754454
27.

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.

McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E; Clinical Evaluator Training Group; ACT DMD Study Group.

Lancet. 2017 Sep 23;390(10101):1489-1498. doi: 10.1016/S0140-6736(17)31611-2. Epub 2017 Jul 17.

PMID:
28728956
28.

Diagnosis of Duchenne muscular dystrophy in Italy in the last decade: Critical issues and areas for improvements.

Haliloglu G, Karaduman A, Topaloglu H.

Neuromuscul Disord. 2017 Oct;27(10):973. doi: 10.1016/j.nmd.2017.06.555. Epub 2017 Jul 3. No abstract available.

PMID:
28711279
29.

The Association of a Number of Anatomical Factors with the Success of Retrograde Intrarenal Surgery in Lower Calyceal Stones.

Sari S, Ozok HU, Topaloglu H, Cakici MC, Ozdemir H, Karakoyunlu AN, Senturk AB, Ersoy H.

Urol J. 2017 Jul 2;14(4):4008-4014.

30.

Genetic Landscape of Congenital Myasthenic Syndromes From Turkey: Novel Mutations and Clinical Insights.

Yiş U, Becker K, Kurul SH, Uyanik G, Bayram E, Haliloğlu G, Polat Aİ, Ayanoğlu M, Okur D, Tosun AF, Serdaroğlu G, Yilmaz S, Topaloğlu H, Anlar B, Cirak S, Engel AG.

J Child Neurol. 2017 Jul;32(8):759-765. doi: 10.1177/0883073817705252. Epub 2017 May 3.

31.

Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey.

Arslan EA, Göçmen R, Oğuz KK, Konuşkan GD, Serdaroğlu E, Topaloğlu H, Topçu M.

Acta Neurol Belg. 2017 Dec;117(4):857-865. doi: 10.1007/s13760-017-0786-7. Epub 2017 Apr 29.

PMID:
28456889
32.

Corrigendum to "Challenges in pediatric chronic inflammatory demyelinating polyneuropathy" [Neuromuscular Disorders 26/12 (2016) 817-824].

Haliloğlu G, Yüksel D, Temoçin CM, Topaloğlu H.

Neuromuscul Disord. 2017 May;27(5):e3. doi: 10.1016/j.nmd.2017.01.005. Epub 2017 Mar 7. No abstract available.

PMID:
28283332
33.

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.

Karakaya M, Ceyhan-Birsoy O, Beggs AH, Topaloglu H.

J Clin Neuromuscul Dis. 2017 Mar;18(3):147-151. doi: 10.1097/CND.0000000000000132.

34.

Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutation.

Ardicli D, Gocmen R, Talim B, Sprute R, Haliloglu G, Cirak S, Topaloglu H.

Neuromuscul Disord. 2017 Mar;27(3):239-242. doi: 10.1016/j.nmd.2016.12.008. Epub 2016 Dec 23.

PMID:
28109637
35.

Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.

Haliloglu G, Becker K, Temucin C, Talim B, Küçükşahin N, Pergande M, Motameny S, Nürnberg P, Aydingoz U, Topaloglu H, Cirak S.

J Hum Genet. 2017 Apr;62(4):497-501. doi: 10.1038/jhg.2016.153. Epub 2016 Dec 15.

PMID:
27974811
36.

Challenges in pediatric chronic inflammatory demyelinating polyneuropathy.

Haliloğlu G, Yüksel D, Temoçin CM, Topaloğlu H.

Neuromuscul Disord. 2016 Dec;26(12):817-824. doi: 10.1016/j.nmd.2016.09.016. Epub 2016 Sep 22. Erratum in: Neuromuscul Disord. 2017 May;27(5):e3.

PMID:
27793469
37.

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization.

O'Grady GL, Best HA, Sztal TE, Schartner V, Sanjuan-Vazquez M, Donkervoort S, Abath Neto O, Sutton RB, Ilkovski B, Romero NB, Stojkovic T, Dastgir J, Waddell LB, Boland A, Hu Y, Williams C, Ruparelia AA, Maisonobe T, Peduto AJ, Reddel SW, Lek M, Tukiainen T, Cummings BB, Joshi H, Nectoux J, Brammah S, Deleuze JF, Ing VO, Ramm G, Ardicli D, Nowak KJ, Talim B, Topaloglu H, Laing NG, North KN, MacArthur DG, Friant S, Clarke NF, Bryson-Richardson RJ, Bönnemann CG, Laporte J, Cooper ST.

Am J Hum Genet. 2016 Nov 3;99(5):1086-1105. doi: 10.1016/j.ajhg.2016.09.005. Epub 2016 Oct 13.

38.

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

Topaloglu H, Melki J.

Epileptic Disord. 2016 Sep 1;18(S2):128-134. Review.

PMID:
27647482
39.

Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology.

Topaloglu H, Gloss D, Moxley RT 3rd, Ashwal S, Oskoui M.

Neurology. 2016 Jul 12;87(2):238. doi: 10.1212/01.wnl.0000489553.99227.18. No abstract available.

PMID:
27402942
40.

Transcript levels of plastin 3 and neuritin 1 modifier genes in spinal muscular atrophy siblings.

Yener İH, Topaloglu H, Erdem-Özdamar S, Dayangac-Erden D.

Pediatr Int. 2017 Jan;59(1):53-56. doi: 10.1111/ped.13052. Epub 2016 Aug 31.

PMID:
27279027
41.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H.

Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006.

42.

Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4.

Akinci G, Topaloglu H, Akinci B, Onay H, Karadeniz C, Ergul Y, Demir T, Ozcan EE, Altay C, Atik T, Garg A.

Eur J Med Genet. 2016 Jun;59(6-7):320-4. doi: 10.1016/j.ejmg.2016.05.001. Epub 2016 May 7.

PMID:
27167729
43.

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.

Akinci B, Onay H, Demir T, Ozen S, Kayserili H, Akinci G, Nur B, Tuysuz B, Nuri Ozbek M, Gungor A, Yildirim Simsir I, Altay C, Demir L, Simsek E, Atmaca M, Topaloglu H, Bilen H, Atmaca H, Atik T, Cavdar U, Altunoglu U, Aslanger A, Mihci E, Secil M, Saygili F, Comlekci A, Garg A.

J Clin Endocrinol Metab. 2016 Jul;101(7):2759-67. doi: 10.1210/jc.2016-1005. Epub 2016 May 4.

PMID:
27144933
44.

Malfunctioned and Fractured Penile Prosthesis Caused by Cross Placement: Case Report.

Karakoyunlu N, Sarı S, Ozdemir H, Topaloglu H, Ozok U, Sagnak L, Ersoy H.

Urol Case Rep. 2015 Mar 21;3(3):80-1. doi: 10.1016/j.eucr.2015.03.001. eCollection 2015 May.

45.

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

Guissart C, Drouot N, Oncel I, Leheup B, Gershoni-Barush R, Muller J, Ferdinandusse S, Larrieu L, Anheim M, Arslan EA, Claustres M, Tranchant C, Topaloglu H, Koenig M.

Eur J Hum Genet. 2016 Aug;24(8):1154-9. doi: 10.1038/ejhg.2015.259. Epub 2015 Dec 16.

46.

Comparison of Network Meta-Analysis and Traditional Meta-Analysis for Prevention of Relapses In Multiple Sclerosis.

Aggarwal S, Kumar S, Topaloglu H.

Value Health. 2015 Nov;18(7):A660. doi: 10.1016/j.jval.2015.09.2394. Epub 2015 Oct 20. No abstract available.

47.

Probiotics Significantly Reduce Mortality In Preterm Newborns With Necrotising Enterocolitis: Results of Large Network Meta-Analysis.

Aggarwal S, Topaloglu H, Kumar S.

Value Health. 2015 Nov;18(7):A576-7. doi: 10.1016/j.jval.2015.09.1916. Epub 2015 Oct 20. No abstract available.

48.

Ultra Orphan and Cancer Drug Pricing Trends In The Us and The Uk.

Aggarwal S, Topaloglu H, Kumar S.

Value Health. 2015 Nov;18(7):A547. doi: 10.1016/j.jval.2015.09.1743. Epub 2015 Oct 20. No abstract available.

49.

Impact of Essential Health Benefit Benchmark Plans on Us Market Access.

Aggarwal S, Topaloglu H, Kumar S.

Value Health. 2015 Nov;18(7):A546. doi: 10.1016/j.jval.2015.09.1741. Epub 2015 Oct 20. No abstract available.

50.

Overview of Nub Process for In-Patient Drugs and Devices In German.

Aggarwal S, Kumar S, Topaloglu H.

Value Health. 2015 Nov;18(7):A546. doi: 10.1016/j.jval.2015.09.1738. Epub 2015 Oct 20. No abstract available.

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