检索结果 - Parman, Yesim

Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages 由 Candayan, Ayşe, Parman, Yeşim, Battaloğlu, Esra

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Familial Amyloid Polyneuropathy 由 Çakar, Arman, Durmuş-Tekçe, Hacer, Parman, Yeşim

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Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features 由 Mroczek, Magdalena, Durmus, Hacer, Töpf, Ana, Parman, Yesim, Straub, Volker

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Elevated IL-4 and IFN-γ Levels in Muscle Tissue of Patients with Dermatomyositis 由 GIRIŞ, MURAT, DURMUŞ, HACER, YETIMLER, BERRAK, TAŞLI, HATICE, PARMAN, YEŞIM, TÜZÜN, ERDEM

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Lumbar Spinal Stenosis: A Rare Presentation of Hereditary Transthyretin Amyloidosis 由 ÇAKAR, Arman, ATMACA, Murat Mert, KOTAN, Dilcan, DURMUŞ, Hacer, DEYMEER, Feza, OFLAZER, Piraye, PARMAN, Yeşim

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Coronavirus Disease 2019 (COVID-19) From the Point of View of Neurologists: Observation of Neurological Findings and Symptoms During the Combat Against a Pandemic 由 Özdağ Acarli, Ayşe Nur, Samanci, Bedia, Ekizoğlu, Esme, Çakar, Arman, Şirin, Nermin Görkem, Gündüz, Tuncay, Parman, Yeşim, Baykan, Betül

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Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11 由 Iskender, Ceren, Kartal, Ece, Akcimen, Fulya, Kocoglu, Cemile, Ozoguz, Aslihan, Kotan, Dilcan, Eraksoy, Mefkure, Parman, Yesim G., Basak, Ayse Nazli

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CONGENITAL MYASTHENIC SYNDROMES IN TURKEY: CLINICAL CLUES AND PROGNOSIS WITH LONG TERM FOLLOW-UP 由 Durmus, Hacer, Shen, Xin-Ming, Serdaroglu-Oflazer, Piraye, Kara, Bulent, Gulsen-Parman, Yesim, Ozdemir, Coskun, Brengman, Joan, Deymeer, Feza, Engel, Andrew G.

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Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort 由 Candayan, Ayşe, Çakar, Arman, Yunisova, Gulshan, Özdağ Acarlı, Ayşe Nur, Atkinson, Derek, Topaloğlu, Pınar, Durmuş, Hacer, Yapıcı, Zuhal, Jordanova, Albena, Parman, Yeşim, Battaloğlu, Esra

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ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population 由 Lahut, Suna, Ömür, Özgür, Uyan, Özgün, Ağım, Zeynep Sena, Özoğuz, Aslihan, Parman, Yeşim, Deymeer, Feza, Oflazer, Piraye, Koç, Filiz, Özçelik, Hilmi, Auburger, Georg, Başak, A. Nazlı

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Genome-Wide Copy Number Variation in Sporadic Amyotrophic Lateral Sclerosis in the Turkish Population: Deletion of EPHA3 Is a Possible Protective Factor 由 Uyan, Özgün, Ömür, Özgür, Ağım, Zeynep Sena, Özoğuz, Aslıhan, Li, Hong, Parman, Yeşim, Deymeer, Feza, Oflazer, Piraye, Koç, Filiz, Tan, Ersin, Özçelik, Hilmi, Başak, A. Nazlı

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The Association of PTPN22 R620W Polymorphism Is Stronger with Late-Onset AChR-Myasthenia Gravis in Turkey 由 Kaya, Gizem A., Coşkun, Ayse N., Yılmaz, Vuslat, Oflazer, Piraye, Gülsen-Parman, Yeşim, Aysal, Fikret, Disci, Rian, Direskeneli, Haner, Marx, Alexander, Deymeer, Feza, Saruhan-Direskeneli, Güher

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Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK 由 Yilmaz, Vuslat, Oflazer, Piraye, Aysal, Fikret, Durmus, Hacer, Poulas, Kostas, Yentur, Sibel P., Gulsen-Parman, Yesim, Tzartos, Socrates, Marx, Alexander, Tuzun, Erdem, Deymeer, Feza, Saruhan-Direskeneli, Güher

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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 由 Çebi, Merve, Durmus, Hacer, Aysal, Fikret, Özkan, Berker, Gül, Gizem Engin, Çakar, Arman, Hocaoglu, Mehmet, Mercan, Metin, Yentür, Sibel P., Tütüncü, Melih, Yayla, Vildan, Akan, Onur, Dogan, Öner, Parman, Yeşim, Saruhan-Direskeneli, Güher

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Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy 由 Guerrero-Valero, Marta, Grandi, Federica, Cipriani, Silvia, Alberizzi, Valeria, Di Guardo, Roberta, Chicanne, Gaetan, Sawade, Linda, Bianchi, Francesca, Del Carro, Ubaldo, De Curtis, Ivan, Pareyson, Davide, Parman, Yesim, Schenone, Angelo, Haucke, Volker, Payrastre, Bernard, Bolino, Alessandra

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NGLY1 Mutation Causes Neuromotor Impairment, Intellectual Disability, and Neuropathy 由 Caglayan, Ahmet Okay, Comu, Sinan, Baranoski, Jacob F., Parman, Yesim, Kaymakçalan, Hande, Akgumus, Gozde Tugce, Caglar, Caner, Dolen, Duygu, Omay, E. Zeynep Erson, Harmanci, Akdes Serin, Mishra, Ketu, Freeze, Hudson H., Yasuno, Katsuhito, Bilguvar, Kaya, Gunel, Murat

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Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D 由 Okamoto, Yuji, Goksungur, Meryem Tuba, Pehlivan, Davut, Beck, Christine R., Gonzaga-Jauregui, Claudia, Muzny, Donna M., Atik, Mehmed M., Carvalho, Claudia M.B., Matur, Zeliha, Bayraktar, Serife, Boone, Philip M., Akyuz, Kaya, Gibbs, Richard A., Battaloglu, Esra, Parman, Yesim, Lupski, James R.

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Myophosphorylase (PYGM) Mutations Determined by Next Generation Sequencing in a Cohort from Turkey with McArdle Disease 由 Inal-Gültekin, Güldal, Toptaş-Hekimoğlu, Bahar, Görmez, Zeliha, Gelişin, Özlem, Durmuş, Hacer, Ergüner, Bekir, Demirci, Hüseyin, Sağıroğlu, Mahmut Ş., Parman, Yeşim, Deymeer, Feza, Yılmaz-Aydoğan, Hülya, Pençe, Sadrettin, Bekircan-Kurt, Can Ebru, Tan, Ersin, Erdem-Özdamar, Sevim, Üstek, Duran, Giger, Urs, Öztürk, Oğuz, Serdaroğlu-Oflazer, Piraye

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Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4 由 Stendel, Claudia , Roos, Andreas , Deconinck, Tine , Pereira, Jorge , Castagner, François , Niemann, Axel , Kirschner, Janbernd , Korinthenberg, Rudolf , Ketelsen, Uwe-Peter , Battaloglu, Esra , Parman, Yesim , Nicholson, Garth , Ouvrier, Robert , Seeger, Jürgen , Jonghe, Peter De , Weis, Joachim , Krüttgen, Alexander , Rudnik-Schöneborn, Sabine , Bergmann, Carsten , Suter, Ueli , Zerres, Klaus , Timmerman, Vincent , Relvas, João B. , Senderek, Jan 

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Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach 由 Zimoń, Magdalena, Battaloǧlu, Esra, Parman, Yesim, Erdem, Sevim, Baets, Jonathan, De Vriendt, Els, Atkinson, Derek, Almeida-Souza, Leonardo, Deconinck, Tine, Ozes, Burcak, Goossens, Dirk, Cirak, Sebahattin, Van Damme, Philip, Shboul, Mohammad, Voit, Thomas, Van Maldergem, Lionel, Dan, Bernard, El-Khateeb, Mohammed S., Guergueltcheva, Velina, Lopez-Laso, Eduardo, Goemans, Nathalie, Masri, Amira, Züchner, Stephan, Timmerman, Vincent, Topaloǧlu, Haluk, De Jonghe, Peter, Jordanova, Albena

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