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101 results

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Page 1
Reticulon 2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.
Maroofian R, Sarraf P, O'Brien TJ, Kamel M, Cakar A, Elkhateeb N, Lau T, Patil SJ, Record CJ, Horga A, Essid M, Selim L, Benrhouma H, Ben Younes T, Zifarelli G, Pagnamenta AT, Bauer P, Khundadze M, Mirecki A, Kamel SM, Elmonem MA, Ghayoor Karimiani E, Jamshidi Y, Offiah AC, Rossor AM, Youssef-Turki IB, Hübner CA, Munot P, Reilly MM, Brown AEX, Nagy S, Houlden H. Maroofian R, et al. Among authors: cakar a. Brain. 2024 Mar 25:awae091. doi: 10.1093/brain/awae091. Online ahead of print. Brain. 2024. PMID: 38527963
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
Tunca C, Şeker T, Akçimen F, Coşkun C, Bayraktar E, Palvadeau R, Zor S, Koçoğlu C, Kartal E, Şen NE, Hamzeiy H, Özoğuz Erimiş A, Norman U, Karakahya O, Olgun G, Akgün T, Durmuş H, Şahin E, Çakar A, Başar Gürsoy E, Babacan Yıldız G, İşak B, Uluç K, Hanağası H, Bilgiç B, Turgut N, Aysal F, Ertaş M, Boz C, Kotan D, İdrisoğlu H, Soysal A, Uzun Adatepe N, Akalın MA, Koç F, Tan E, Oflazer P, Deymeer F, Taştan Ö, Çiçek AE, Kavak E, Parman Y, Başak AN. Tunca C, et al. Among authors: cakar a. Hum Mutat. 2020 Aug;41(8):e7-e45. doi: 10.1002/humu.24055. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32579787
CD4+ T Cells of Myasthenia Gravis Patients Are Characterized by Increased IL-21, IL-4, and IL-17A Productions and Higher Presence of PD-1 and ICOS.
Çebi M, Durmus H, Aysal F, Özkan B, Gül GE, Çakar A, Hocaoglu M, Mercan M, Yentür SP, Tütüncü M, Yayla V, Akan O, Dogan Ö, Parman Y, Saruhan-Direskeneli G. Çebi M, et al. Among authors: cakar a. Front Immunol. 2020 May 19;11:809. doi: 10.3389/fimmu.2020.00809. eCollection 2020. Front Immunol. 2020. PMID: 32508812 Free PMC article.
Electrodiagnostic methods to verify Guillain-Barré syndrome subtypes in Istanbul: A prospective multicenter study.
Tasdemir V, Sirin NG, Cakar A, Culha A, Soysal A, Elmali AD, Gunduz A, Arslan B, Yalcin D, Atakli D, Orhan EK, Sanli E, Tuzun E, Gozke E, Gursoy E, Savrun FK, Uslu FI, Aysal F, Durmus H, Bulbul H, Ertas FI, Uluc K, Tutkavul K, Baysal L, Baslo MB, Kiziltan M, Mercan M, Pazarci N, Uzun N, Akan O, Cokar O, Koytak PK, Sürmeli R, Gunaydin S, Ayas S, Baslo SA, Yayla V, Yilmaz V, Parman Y, Matur Z, Acar ZU, Oge AE. Tasdemir V, et al. Among authors: cakar a. J Peripher Nerv Syst. 2024 Mar;29(1):72-81. doi: 10.1111/jns.12612. Epub 2024 Jan 30. J Peripher Nerv Syst. 2024. PMID: 38291679
Genetic pain loss disorders.
Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I. Lischka A, et al. Among authors: cakar a. Nat Rev Dis Primers. 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. Nat Rev Dis Primers. 2022. PMID: 35710757 Review.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: cakar a. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
101 results