Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

Authors: Tomàs Pinós, Antoni L. Andreu, Claudio Bruno, Georgios M. Hadjigeorgiou, Ronald G. Haller, Pascal Laforêt, Alejandro Lucía, Miguel A. Martín, Andrea Martinuzzi, Carmen Navarro, Piraye Oflazer, Jean Pouget, Ros Quinlivan, Sabrina Sacconi, Renata S. Scalco, Antonio Toscano, John Vissing, Matthias Vorgerd, Andrew Wakelin, Ramon Martí, EUROMAC Consortium

Source: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)

Subject Terms: Myopathy, Rare diseases, International registry, McArdle disease, Metabolic diseases, Glycogen storage disease, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01455-z; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/4fb930dc3b684799bae389fdc920b237

Transthyretin-Related Familial Amyloid Polyneuropathy: In the Light of New Developments

Authors: Arman Çakar, Hacer Durmuş Tekçe, Feza Deymeer, Piraye Oflazer Serdaroğlu, Yeşim G Parman

Source: Türk Nöroloji Dergisi, Vol 23, Iss 3, Pp 105-111 (2017)

Subject Terms: Amyloidosis, transthyretin, polyneuropathy, genetics, neuropathy, Medicine, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-03206; https://doaj.org/toc/1301-062X; https://doaj.org/toc/1309-2545

Access URL: https://doaj.org/article/d398437b068b4814b5b127d9d7efaa90

Differential Diagnosis Approach to Bilateral Peripheral Facial Paralysis: A Case Report

Authors: Nihan Hande Akçakaya, Meltem Hale Alpsan Gökmen, Yeşim Gülşen Parman, Feza Deymeer, Piraye Oflazer

Source: Türk Nöroloji Dergisi, Vol 22, Iss 4, Pp 196-198 (2016)

Subject Terms: Bilateral peripheral facial palsy, facial diplegia, Lyme disease, Guillain-Barre syndrome, Medicine, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.journalagent.com/tjn/pdfs/TJN_22_4_196_198.pdf; https://doaj.org/toc/1301-062X

Access URL: https://doaj.org/article/8cc0505e98434d1dadb8186568dd22b4

Facial and Skeletal Muscle Magnetic Resonance Imaging In Oculopharyngodistal Myopathy

Authors: Hacer Durmuş, Memduh Dursun, Serra Sencer, Feza Deymeer, Piraye Oflazer-serdaroğlu

Source: Türk Nöroloji Dergisi, Vol 20, Iss 4, Pp 121-125 (2014)

Subject Terms: Oculopharyngodistal, myopathy, magnetic resonance imaging, MRI, Medicine, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-52385&look4=; https://doaj.org/toc/1301-062X

Access URL: https://doaj.org/article/9c053c083a514bc7847a65e8ba18b6ce

Stem Cell Applications in Amyotrophic Lateral Sclerosis

Authors: H. Özden Şener, Yeşim Parman, İhsan Şengün, Filiz Koç, Piraye Oflazer

Source: Türk Nöroloji Dergisi, Vol 15, Iss 3, Pp 105-108 (2009)

Subject Terms: Stem cells, amyotrophic lateral sclerosis, motor neuron disease, Medicine, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-82612; https://doaj.org/toc/1301-062X; https://doaj.org/toc/1309-2545

Access URL: https://doaj.org/article/585adb09d27f460b8262b5553af207f3

Myasthenia Gravis after Botulinum Toxin Type A Injection

Authors: Hacer Durmuş Tekçe, Feza Deymeer, Piraye Oflazer Serdaroğlu, Yeşim Parman

Source: Türk Nöroloji Dergisi, Vol 22, Iss 3, Pp 143-144 (2016)

Subject Terms: Myasthenia gravis, Botulinum toxin A, dystonia, Medicine, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-02703; https://doaj.org/toc/1301-062X

Access URL: https://doaj.org/article/410a1a30f6244f3b881aed8b83f87e61

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

Authors: Vuslat Yilmaz, Piraye Oflazer, Fikret Aysal, Hacer Durmus, Kostas Poulas, Sibel P Yentur, Yesim Gulsen-Parman, Socrates Tzartos, Alexander Marx, Erdem Tuzun, Feza Deymeer, Güher Saruhan-Direskeneli

Source: PLoS ONE, Vol 10, Iss 4, p e0123546 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/0de3ce75fb9243d1834b5949a1492d14

The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-myasthenia gravis in Turkey.

Authors: Gizem A Kaya, Ayse N Coşkun, Vuslat Yılmaz, Piraye Oflazer, Yeşim Gülsen-Parman, Fikret Aysal, Rian Disci, Haner Direskeneli, Alexander Marx, Feza Deymeer, Güher Saruhan-Direskeneli

Source: PLoS ONE, Vol 9, Iss 8, p e104760 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4132102?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/e0bc981112984bec8fc9f1185e055cf5

Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor.

Authors: Özgün Uyan, Özgür Ömür, Zeynep Sena Ağım, Aslıhan Özoğuz, Hong Li, Yeşim Parman, Feza Deymeer, Piraye Oflazer, Filiz Koç, Ersin Tan, Hilmi Özçelik, A Nazlı Başak

Source: PLoS ONE, Vol 8, Iss 8, p e72381 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3753249?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/c964e3519dc74d7690cdecf553e92cf7

ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population.

Authors: Suna Lahut, Özgür Ömür, Özgün Uyan, Zeynep Sena Ağım, Aslihan Özoğuz, Yeşim Parman, Feza Deymeer, Piraye Oflazer, Filiz Koç, Hilmi Özçelik, Georg Auburger, A Nazlı Başak

Source: PLoS ONE, Vol 7, Iss 8, p e42956 (2012)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3423429?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/f34366b77e114af0aebef452ddd6d16a

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Authors: Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard

Source: Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5

Transthyretin-Related Familial Amyloid Polyneuropathy: In the Light of New Developments

Authors: Çakar, Arman, Tekçe, Hacer Durmuş, Deymeer, Feza, Serdaroğlu, Piraye Oflazer, Parman, Yeşim G.

Source: Türk nöroloji dergisi. 23(3):105-111

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN613325035&indx=1&recIds=ETOCRN613325035

Yeni Gelişmeler Işığında Transtiretin İlişkili Ailevi Amiloid Polinöropatisi. (Turkish)

Alternate Title: Transthyretin-Related Familial Amyloid Polyneuropathy: In the Light of New Developments. (English)

Authors: Çakar, Arman, Tekçe, Hacer Durmuş, Deymeer, Feza, Serdaroğlu, Piraye Oflazer, Parman, Yeşim G.

Source: Turkish Journal of Neurology / Turk Noroloji Dergisi; Sep2017, Vol. 23 Issue 3, p105-111, 7p

Subject Terms: TREATMENT of peripheral neuropathy, AMYLOID, AMYLOIDOSIS, AUTONOMIC nervous system, LIVER transplantation, GENETIC mutation, SERUM albumin, PHENOTYPES, SEQUENCE analysis

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