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Haluk Topaloğlu

yeditepe university

77H-index
507Paper Count
2.3WCitation Count
Published Papers 99
Publication Date
Tissue-Selective Effects of PLEC Isoform Deficiency: Insights From A Muscle Only Phenotype
err2025-12-01
err0
PREAI
errGundesli, Hulya; Topaloglu, Haluk; Dincer, Pervin
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Genetic and Clinical Spectrum of PIEZO2-Related Disorders: Insights from a Multicenter Study of 26 Patients
err2025-06-25
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PREAI
errGulcin Akinci; Berk Ozyilmaz; Gulten Ozturk; Mustafa Komur; Ece Onel; Didem Ardicli; Hamide Betul Gerik-Celebi; Aysima Ozcelik; Sanem Yilmaz; Ipek Dokurel Cetin; Cagatay Gunay; Gokcen Oz Tuncer; Hilal Aydin; Ayfer Sakarya Gunes; Ozlem Yayici Koken; Ipek Polat; Aydan Degerliyurt; Tamer Celik; Yusuf Kenan Cetinoglu; Omer Karti; Sonay Sahan; Burcu Karakayali; Esra Isik; Muhsin Elmas; Bahtiyar Sahinoglu; Hilmi Bolat; Cem Karadeniz; Ahmet Cevdet Ceylan; Uluc Yis; Dilsad Turkdogan; Ayse Aksoy; Sehime Gulsun Temel; Haluk Topaloglu
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Safety and efficacy of viltolarsen in ambulatory and nonambulatory males with Duchenne muscular dystrophy
err2024-10-08
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errOAAI
errHarper, Amy D.; Topaloglu, Haluk; Mercuri, Eugenio; Suslov, Vasiliy; Wu, Liwen; Ayanoglu, Cigdem Y.; Tansey, Michael; Previtera, Michelle L.; Crozier, Robert A.; Magnus, Leslie; Clemens, Paula R.
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Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy
err2024-05-11
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errOAAI
errCavusoglu, Dilek; Talim, Beril; Ekinci, Gazanfer; Topaloglu, Haluk
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European Academy of Neurology/Peripheral Nerve Society Guideline on diagnosis and treatment of Guillain-Barré syndrome
err2023-10-10
err24
errOAAI
errvan Doorn, Pieter A.; van den Bergh, Peter Y. K.; Hadden, Robert D. M.; Avau, Bert; Vankrunkelsven, Patrik; Attarian, Shahram; Blomkwist-Markens, Patricia H.; Cornblath, David R.; Goedee, H. Stephan; Harbo, Thomas; Jacobs, Bart C.; Kusunoki, Susumu; Lehmann, Helmar C.; Lewis, Richard A.; Lunn, Michael P.; Nobile-Orazio, Eduardo; Querol, Luis; Rajabally, Yusuf A.; Umapathi, Thirugnanam; Topaloglu, Haluk A.; Willison, Hugh J.
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Neuromuscular disease genetics in under-represented populations: increasing data diversity
errBRAIN
IF11.7
err2023-07-30
err8
errOAAI
errWilson, Lindsay A.; Macken, William L.; Perry, Luke D.; Record, Christopher J.; Schon, Katherine; Frezatti, Rodrigo S. S.; Raga, Sharika; Naidu, Kireshnee; Koken, Ozlem Yayici; Polat, Ipek; Kapapa, Musambo M.; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R.; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J. L. F.; Reyaz, Alisha; Mishra, Rinkle; Topf, Ana; Trainor, Christina I.; Steyn, Elizabeth C.; Mahungu, Amokelani C.; van der Vliet, Patrick J.; Ceylan, Ahmet Cevdet; Hiz, A. Semra; Cavdarli, Busranur; Gunduz, C. Nur Semerci; Ceylan, Gulay Gulec; Nagappa, Madhu; Tallapaka, Karthik B.; Govindaraj, Periyasamy; van der Maarel, Silvere M.; Narayanappa, Gayathri; Nandeesh, Bevinahalli N.; Somwe, Somwe Wa; Bearden, David R.; Kvalsund, Michelle P.; Ramdharry, Gita M.; Oktay, Yavuz; Yis, Uluc; Topaloglu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M.; Heckmann, Jeannine M.; McFarland, Robert; Taylor, Robert W.; Smuts, Izelle; van der Westhuizen, Francois H.; da Rosa Sobreira, Claudia Ferreira; Tomaselli, Pedro J.; Marques, Wilson, Jr.; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M. V. Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y.; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F.; Pitceathly, Robert D. S.; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M.; Hanna, Michael G.
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FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum
err2022-04-07
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errOAAI
errMroczek, Magdalena; Longman, Cheryl; Farrugia, Maria Elena; Garcia, Solange Kapetanovic; Ardicli, Didem; Topaloglu, Haluk; Hernandez-Lain, Aurelio; Orhan, Diclehan; Alikasifoglu, Mehmet; Duff, Jennifer; Specht, Sabine; Nowak, Kristen; Ravenscroft, Gianina; Chao, Katherine; Valivullah, Zaheer; Donkervoort, Sandra; Saade, Dimah; Bonnemann, Carsten; Straub, Volker; Yoon, Grace
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Reduced mitochondrial fission and impaired energy metabolism in human primary skeletal muscle cells of Megaconial Congenital Muscular Dystrophy
err2021-09-13
err14
errOAAI
errAksu-Menges, Evrim; Eylem, Cemil Can; Nemutlu, Emirhan; Gizer, Merve; Korkusuz, Petek; Topaloglu, Haluk; Talim, Beril; Balci-Hayta, Burcu
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European Academy of Neurology/Peripheral Nerve Society guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint Task Force-Second revision
err2021-07-30
err261
errOAAI
errVan den Bergh, Peter Y. K.; van Doorn, Pieter A.; Hadden, Robert D. M.; Avau, Bert; Vankrunkelsven, Patrik; Allen, Jeffrey A.; Attarian, Shahram; Blomkwist-Markens, Patricia H.; Cornblath, David R.; Eftimov, Filip; Goedee, H. Stephan; Harbo, Thomas; Kuwabara, Satoshi; Lewis, Richard A.; Lunn, Michael P.; Nobile-Orazio, Eduardo; Querol, Luis; Rajabally, Yusuf A.; Sommer, Claudia; Topaloglu, Haluk A.
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Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia
err2021-04-06
err6
errOAAI
errGhosh, Shereen G.; Breuss, Martin W.; Schlachetzki, Zinayida; Chai, Guoliang; Ross, Danica; Stanley, Valentina; Sonmez, F. Mujgan; Topaloglu, Haluk; Zaki, Maha S.; Hosny, Heba; Gad, Shaimaa; Gleeson, Joseph G.
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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
err2021-04-05
err38
errOAAI
errLaquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jerome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Heron, Delphine; Viot, Geraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Celine; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valerie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Helene; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andree; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Megarbane, Andre; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quelin, Chloe; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michele; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith
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Inflammatory milieu of muscle biopsies in juvenile dermatomyositis
err2020-10-26
err9
PREAI
errSag, Erdal; Kale, Gulsev; Haliloglu, Goknur; Bilginer, Yelda; Akcoren, Zuhal; Orhan, Diclehan; Gucer, Safak; Topaloglu, Haluk; Ozen, Seza; Talim, Beril
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Selenoprotein N-related myopathy: a retrospective natural history study to guide clinical trials
err2020-10-10
err20
errOAAI
errSilwal, Arpana; Sarkozy, Anna; Scoto, Mariacristina; Ridout, Deborah; Schmidt, Anne; Laverty, Aidan; Henriques, Matilde; D'Argenzio, Luigi; Main, Marion; Mein, Rachael; Manzur, Adnan Y.; Abel, Francois; Al-Ghamdi, Fouad; Genetti, Casie A.; Ardicli, Didem; Haliloglu, Goknur; Topaloglu, Haluk; Beggs, Alan H.; Muntoni, Francesco
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The clinical, histologic, and genotypic spectrum ofSEPN1-related myopathy A case series
err2020-09-15
err39
errOAAI
errVillar-Quiles, Rocio N.; von Der Hagen, Maja; Metay, Corinne; Gonzalez, Victoria; Donkervoort, Sandra; Bertini, Enrico; Castiglioni, Claudia; Chaigne, Denys; Colomer, Jaume; Cuadrado, Maria Luz; de Visser, Marianne; Desguerre, Isabelle; Eymard, Bruno; Goemans, Nathalie; Kaindl, Angela; Lagrue, Emmanuelle; Lutschg, Jurg; Malfatti, Edoardo; Mayer, Michele; Merlini, Luciano; Orlikowski, David; Reuner, Ulrike; Salih, Mustafa A.; Schlotter-Weigel, Beate; Stoetter, Mechthild; Straub, Volker; Topaloglu, Haluk; Urtizberea, J. Andoni; van der Kooi, Anneke; Wilichowski, Ekkehard; Romero, Norma B.; Fardeau, Michel; Bonnemann, Carsten G.; Estournet, Brigitte; Richard, Pascale; Quijano-Roy, Susana; Schara, Ulrike; Ferreiro, Ana
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