Familial Amyloid Polyneuropathy

Autor Çakar, Arman, Durmuş-Tekçe, Hacer, Parman, Yeşim
Vydáno v Noro Psikiyatr Ars (2019)

Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

Autor Mroczek, Magdalena, Durmus, Hacer, Töpf, Ana, Parman, Yesim, Straub, Volker
Vydáno v Genes (Basel) (2020)

Elevated IL-4 and IFN-γ Levels in Muscle Tissue of Patients with Dermatomyositis

Autor GIRIŞ, MURAT, DURMUŞ, HACER, YETIMLER, BERRAK, TAŞLI, HATICE, PARMAN, YEŞIM, TÜZÜN, ERDEM
Vydáno v In Vivo (2017)

Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns...

Autor Parman, Yesim, Adams, David, Obici, Laura, Galán, Lucía, Guergueltcheva, Velina, Suhr, Ole B., Coelho, Teresa
Vydáno v Curr Opin Neurol (2016)

Genotypic and phenotypic presentation of Glu89Gln mutation in Turkey

Autor Durmus, Hacer, Matur, Zeliha, Atmaca, Murat Mert, Poda, Mehves, Cakar, Arman, Serdaroglu-Oflazer, Piraye, Deymeer, Feza, Parman, Yesim
Vydáno v Orphanet J Rare Dis (2015)

Coronavirus Disease 2019 (COVID-19) From the Point of View of Neurologists: Observation of Neurological Findings and Symptoms During the Combat Against a Pandemic

Autor Özdağ Acarli, Ayşe Nur, Samanci, Bedia, Ekizoğlu, Esme, Çakar, Arman, Şirin, Nermin Görkem, Gündüz, Tuncay, Parman, Yeşim, Baykan, Betül
Vydáno v Noro Psikiyatr Ars (2020)

Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11

Autor Iskender, Ceren, Kartal, Ece, Akcimen, Fulya, Kocoglu, Cemile, Ozoguz, Aslihan, Kotan, Dilcan, Eraksoy, Mefkure, Parman, Yesim G., Basak, Ayse Nazli
Vydáno v Neurol Genet (2015)

CONGENITAL MYASTHENIC SYNDROMES IN TURKEY: CLINICAL CLUES AND PROGNOSIS WITH LONG TERM FOLLOW-UP

Autor Durmus, Hacer, Shen, Xin-Ming, Serdaroglu-Oflazer, Piraye, Kara, Bulent, Gulsen-Parman, Yesim, Ozdemir, Coskun, Brengman, Joan, Deymeer, Feza, Engel, Andrew G.
Vydáno v Neuromuscul Disord (2017)

ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population

Autor 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
Vydáno 2012

Genome-Wide Copy Number Variation in Sporadic Amyotrophic Lateral Sclerosis in the Turkish Population: Deletion of EPHA3 Is a Possible Protective Factor

Autor 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
Vydáno 2013

The Association of PTPN22 R620W Polymorphism Is Stronger with Late-Onset AChR-Myasthenia Gravis in Turkey

Autor 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
Vydáno 2014

Differential Cytokine Changes in Patients with Myasthenia Gravis with Antibodies against AChR and MuSK

Autor 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
Vydáno v PLoS One (2015)

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

Autor 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
Vydáno v Front Immunol (2020)

Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy

Autor 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
Vydáno v Proc Natl Acad Sci U S A (2021)

NGLY1 Mutation Causes Neuromotor Impairment, Intellectual Disability, and Neuropathy

Autor 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
Vydáno v Eur J Med Genet (2014)

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

Autor 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.
Vydáno v Genet Med (2013)

Myophosphorylase (PYGM) Mutations Determined by Next Generation Sequencing in a Cohort from Turkey with McArdle Disease

Autor 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
Vydáno v Neuromuscul Disord (2017)

Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4

Autor 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 
Vydáno 2007

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

Autor 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
Vydáno v Neurogenetics (2014)

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Autor Senderek, Jan, Bergmann, Carsten, Stendel, Claudia, Kirfel, Jutta, Verpoorten, Nathalie, De Jonghe, Peter, Timmerman, Vincent, Chrast, Roman, H. G. Verheijen, Mark, Lemke, Greg, Battaloglu, Esra, Parman, Yesim, Erdem, Sevim, Tan, Ersin, Topaloglu, Haluk, Hahn, Andreas, Müller-Felber, Wolfgang, Rizzuto, Nicolò, Fabrizi, Gian Maria, Stuhrmann, Manfred, Rudnik-Schöneborn, Sabine, Züchner, Stephan, Michael Schröder, J., Buchheim, Eckhard, Straub, Volker, Klepper, Jörg, Huehne, Kathrin, Rautenstrauss, Bernd, Büttner, Reinhard, Nelis, Eva, Zerres, Klaus
Vydáno 2003