Familial Amyloid Polyneuropathy

par Çakar, Arman, Durmuş-Tekçe, Hacer, Parman, Yeşim
Publié dans Noro Psikiyatr Ars (2019)

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

par Mroczek, Magdalena, Durmus, Hacer, Töpf, Ana, Parman, Yesim, Straub, Volker
Publié dans Genes (Basel) (2020)

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

par GIRIŞ, MURAT, DURMUŞ, HACER, YETIMLER, BERRAK, TAŞLI, HATICE, PARMAN, YEŞIM, TÜZÜN, ERDEM
Publié dans 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...

par Parman, Yesim, Adams, David, Obici, Laura, Galán, Lucía, Guergueltcheva, Velina, Suhr, Ole B., Coelho, Teresa
Publié dans Curr Opin Neurol (2016)

Genotypic and phenotypic presentation of Glu89Gln mutation in Turkey

par Durmus, Hacer, Matur, Zeliha, Atmaca, Murat Mert, Poda, Mehves, Cakar, Arman, Serdaroglu-Oflazer, Piraye, Deymeer, Feza, Parman, Yesim
Publié dans 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

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

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

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

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

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

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

par 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
Publié 2012

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

par 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
Publié 2013

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

par 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
Publié 2014

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

par 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
Publié dans 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

par 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
Publié dans Front Immunol (2020)

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

par 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
Publié dans Proc Natl Acad Sci U S A (2021)

NGLY1 Mutation Causes Neuromotor Impairment, Intellectual Disability, and Neuropathy

par 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
Publié dans Eur J Med Genet (2014)

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

par 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.
Publié dans Genet Med (2013)

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

par 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
Publié dans Neuromuscul Disord (2017)

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

par 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 
Publié 2007

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

par 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
Publié dans Neurogenetics (2014)

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

par 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
Publié 2003