Familial Amyloid Polyneuropathy

Por Çakar, Arman, Durmuş-Tekçe, Hacer, Parman, Yeşim
Publicado no Noro Psikiyatr Ars (2019)

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

Por Mroczek, Magdalena, Durmus, Hacer, Töpf, Ana, Parman, Yesim, Straub, Volker
Publicado no Genes (Basel) (2020)

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

Por GIRIŞ, MURAT, DURMUŞ, HACER, YETIMLER, BERRAK, TAŞLI, HATICE, PARMAN, YEŞIM, TÜZÜN, ERDEM
Publicado no 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...

Por Parman, Yesim, Adams, David, Obici, Laura, Galán, Lucía, Guergueltcheva, Velina, Suhr, Ole B., Coelho, Teresa
Publicado no Curr Opin Neurol (2016)

Genotypic and phenotypic presentation of Glu89Gln mutation in Turkey

Por Durmus, Hacer, Matur, Zeliha, Atmaca, Murat Mert, Poda, Mehves, Cakar, Arman, Serdaroglu-Oflazer, Piraye, Deymeer, Feza, Parman, Yesim
Publicado no 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

Por Özdağ Acarli, Ayşe Nur, Samanci, Bedia, Ekizoğlu, Esme, Çakar, Arman, Şirin, Nermin Görkem, Gündüz, Tuncay, Parman, Yeşim, Baykan, Betül
Publicado no Noro Psikiyatr Ars (2020)

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

Por Iskender, Ceren, Kartal, Ece, Akcimen, Fulya, Kocoglu, Cemile, Ozoguz, Aslihan, Kotan, Dilcan, Eraksoy, Mefkure, Parman, Yesim G., Basak, Ayse Nazli
Publicado no Neurol Genet (2015)

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

Por Durmus, Hacer, Shen, Xin-Ming, Serdaroglu-Oflazer, Piraye, Kara, Bulent, Gulsen-Parman, Yesim, Ozdemir, Coskun, Brengman, Joan, Deymeer, Feza, Engel, Andrew G.
Publicado no Neuromuscul Disord (2017)

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

Por 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
Publicado em 2012

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

Por 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
Publicado em 2013

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

Por 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
Publicado em 2014

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

Por 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
Publicado no 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

Por 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
Publicado no Front Immunol (2020)

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

Por 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
Publicado no Proc Natl Acad Sci U S A (2021)

NGLY1 Mutation Causes Neuromotor Impairment, Intellectual Disability, and Neuropathy

Por 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
Publicado no Eur J Med Genet (2014)

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

Por 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.
Publicado no Genet Med (2013)

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

Por 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
Publicado no Neuromuscul Disord (2017)

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

Por 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 
Publicado em 2007

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

Por 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
Publicado no Neurogenetics (2014)

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

Por 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
Publicado em 2003