Variable clinical phenotypes of alpha‐methylacyl‐CoA racemase deficiency: Report of four cases and review of the literature

Authors: Arzu Selamioğlu, Mehmet Cihan Balcı, Meryem Karaca, Youssef Khalil, Rohit Hirachan, Hacer Durmuş Tekçe, Yeşim Gülşen Parman, Asuman Gedikbaşı, Mübeccel Demirkol, Peter Clayton, Gülden Gökçay

Source: JIMD Reports, Vol 65, Iss 5, Pp 305-312 (2024)

Subject Terms: alpha‐methylacyl‐CoA racemase deficiency, AMACR gene, hypocholesterolemia, peroxisomal disorders, rhabdomyolysis, variable phenotype, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/ce5fc731aa4b4a558769ab1f902a8afa

Thymic gene expression analysis reveals a potential link between HIF-1A and Th17/Treg imbalance in thymoma associated myasthenia gravis

Authors: İlayda Altınönder, Mustafa Kaya, Sibel P. Yentür, Arman Çakar, Hacer Durmuş, Gülçin Yegen, Berker Özkan, Yeşim Parman, Amr H. Sawalha, Guher Saruhan-Direskeneli

Source: Journal of Neuroinflammation, Vol 21, Iss 1, Pp 1-10 (2024)

Subject Terms: Thymoma, Thymus, Myasthenia gravis, Hypoxia-inducible factor-1, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/1742-2094

Access URL: https://doaj.org/article/22e3a343211b4a35a2bed8399f28723e

The COVID-19 from Neurological Overview

Authors: Türkan Acar, Esra Acıman Demirel, Nazire Afşar, Aylin Akçalı, Gülşen Akman Demir, Aybala Neslihan Alagöz, Tuğçe Angın Mengi, Ethem Murat Arsava, Semih Ayta, Nerses Bebek, Başar Bilgiç, Cavit Boz, Arman Çakar, Neşe Çelebisoy, Mehmet Uğur Çevik, Firuze Delen, Hacer Durmuş Tekçe, Hakan Ekmekçi, Ayşe Deniz Elmalı, Oğuz Osman Erdinç, Füsun Ferda Erdoğan, Fettah Eren, Ufuk Ergün, Yeşim Gülşen Parman, Haluk Gümüş, Demet İlhan Algın, Rana Karabudak, Ömer Karadaş, Özlem Kayım Yıldız, Emine Rabia Koç, Demet Özbabalık Adapınar, Atilla Özcan Özdemir, Şerefnur Öztürk, Ayşe Sağduyu Kocaman, Şevki Şahin, Esen Saka Topçuoğlu, Özden Şener, F. İrsel Tezer, Rıfat Erdem Toğrol, Ayşe Bora Tokçaer, Mehmet Akif Topçuoğlu, Neşe Tuncer, Ali Ulvi Uca, Kayıhan Uluç, Erdem Yaka, Mehmet İlker Yön

Source: Türk Nöroloji Dergisi, Vol 26, Iss 2, Pp 58-108 (2020)

Subject Terms: covid-19, nöroloji, covid-19 pandemisi, 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-73669; https://doaj.org/toc/1309-2545

Access URL: https://doaj.org/article/9e059a592187495c841789571449a527

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

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

Development of Multiple Sclerosis in Patients with Optic Neuritis: Analysis of Predictive Factors

Authors: Hacer Durmuş, Murat Kürtüncü, Erdem Tüzün, Bora Akalın, Melike Mutlu, Gülşen Akman Demir, Mefküre Eraksoy

Source: Türk Nöroloji Dergisi, Vol 15, Iss 3, Pp 119-123 (2009)

Subject Terms: Optic neuritis, multiple sclerosis, demyelinating diseases, 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-25238; https://doaj.org/toc/1301-062X; https://doaj.org/toc/1309-2545

Access URL: https://doaj.org/article/f0847606adee421f88925b1391fb0adc

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

Pulmonary functions and sleep-related breathing disorders in lipid storage disease

Authors: Bingöl, Züleyha, Tekce, Hacer Durmuş, Sağcan, Gülseren, Serdaroğlu, Piraye, Kıyan, Esen

Source: Sleep & breathing. 22(4):1137-1142

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100127750608.0x000001&indx=1&recIds=ETOCvdc_100127750608.0x000001

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

Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America

Authors: Emma Rybalka, Hyung Jun Park, Atchayaram Nalini, Dipti Baskar, Kiran Polavarapu, Hacer Durmus, Yang Xia, Linlin Wan, Perry B. Shieh, Behzad Moghadaszadeh, Alan H. Beggs, David L. Mack, Alec S. T. Smith, Wendy Hanna-Rose, Hyder A. Jinnah, Cara A. Timpani, Min Shen, Jaymin Upadhyay, Jeffrey J. Brault, Matthew D. Hall, Naveen Baweja, Priyanka Kakkar

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-18 (2024)

Subject Terms: Adenylosuccinate synthetase 1 myopathy, ADSS1 myopathy, Inborn error of metabolism, Purine disorder, Ultra-rare neuromuscular disease, Skeletal muscle, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/0dfb7f65052b4eb2a4a20ba5da9a4309

Detection of gene variants associated with recessive limb–girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis

Authors: Jorge Alfredo Bevilacqua, Abdullah Mohammed Al-Salti, Abubaker Al Madani, Armando Alves da Fonseca, Hacer Durmus, Josiah Chai, Ali Alshehri, Márcia Gonçalves Ribeiro, Paulo Sgobbi, Sergey S. Nikitin, Steven Vargas, Adriana Furtado, Nathan Thibault, Roberto Araujo, Nadia Daba

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: next-generation sequencing, late-onset Pompe disease, limb-girdle muscular dystrophies, limb-girdle muscular weakness, acid α-glucosidase, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1477291/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/08e96ced39df4405ab6e4d78c5828925

Editorial: Diagnosis and identification of novel disorders and ultra-rare disorders in science and clinical routine

Authors: Hacer Durmus

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: genetic, clinical care, critically ill, rapid exome sequencing, exom squencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1522931/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/0573669f604249f89c0c75afc4de1ad7

Contributors

Authors: Aminoff, Michael J., Pomeroy, Scott L., Levin, Kerry H., Biousse︎, Valérie, Byer︎, Lennox, Cook︎, Melissa, Darras︎, Basil T., David︎, William S., Deymeer︎, Feza, Dimberg︎, Elliot L., Douglas, Anne G., Dyck︎, P. James B., Fay︎, Alexander, Fleming, Nathaniel H., Ghosh︎, Partha, Goyal, Namita, Kang︎, Peter B., Lamb︎, Christopher J., Li︎, Yuebing, Markman︎, John, Mozaffar, Tahseen, Newman︎, Nancy J., Nicholson︎, Katharine, Pasha︎, Fajar, Pet, Douglas, Richie︎, Megan, Rider︎, Eric A., Rubin︎, Devon, Sanghani︎, Nirav, Srinivasan︎, Jayashri, Strober︎, Jonathan B., Tavee︎, Jinny, Tekçe, Hacer Durmuş, Thakore︎, Nimish, Vytopil︎, Michal, Wilberger︎, Jack, Zale︎, Chelsea

Source: In The Netter Collection of Medical Illustrations: Nervous System, Volume 7, Part II - Spinal Cord and Peripheral Motor and Sensory Systems Edition: Third Edition. 2025:xi-xii

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Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation

Authors: Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

Subject Terms: McArdle disease, Glycogen storage disease V, Rare diseases, International registry, Health care, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/36d94750141a4f249b7874ba6c6e46e8

The COVID-19 from Neurological Overview.

Alternate Title: Nörolojik Bakış Açısından COVID-19. (Turkish)

Authors: Acar, Türkan, Demirel, Esra Acıman, Afşar, Nazire, Akçalı, Aylin, Demir, Gülşen Akman, Alagöz, Aybala Neslihan, Mengi, Tuğçe Angın, Arsava, Ethem Murat, Ayta, Semih, Bebek, Nerses, Bilgiç, Başar, Boz, Cavit, Çakar, Arman, Çelebisoy, Neşe, Çevik, Mehmet Uğur, Delen, Firuze, Tekçe, Hacer Durmuş, Ekmekçi, Hakan, Elmal, Ayşe Deniz, Erdinç, Oğuz Osman

Source: Turkish Journal of Neurology / Turk Noroloji Dergisi; Jun2020, Vol. 26 Issue 2, p58-108, 51p

Subject Terms: ADULT respiratory distress syndrome treatment, PNEUMONIA treatment, PREVENTION of infectious disease transmission, CORONAVIRUSES, HYDROXYCHLOROQUINE, TERMS & phrases, PERSONAL protective equipment, AZITHROMYCIN, PATIENT safety, INFECTION control, NUTRITION counseling, LOPINAVIR-ritonavir, POLYMERASE chain reaction, ELECTROENCEPHALOGRAPHY, HEADACHE, CHEST X rays, SEVERITY of illness index, CHLOROQUINE, COVID-19 vaccines, ANTIVIRAL agents, NEUROLOGICAL disorders, ELECTROMYOGRAPHY, NEUROLOGY, LUNG diseases, INTENSIVE care units, DELIRIUM, NEURORADIOLOGY, COVID-19 pandemic, COVID-19, PLASMA exchange (Therapeutics), CRITICAL care medicine, CONSCIOUSNESS disorders, SYMPTOMS

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Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective

Authors: Sevim Erdem Ozdamar, Ayse Filiz Koc, Hacer Durmus Tekce, Dilcan Kotan, Ahmet Hakan Ekmekci, Ihsan Sukru Sengun, Ayse Nur Yuceyar, Kayihan Uluc

Source: Frontiers in Neurology, Vol 14 (2023)

Subject Terms: late-onset Pompe disease, diagnostic delay, diagnostic algorithm, index of suspicion, treatment, outcome, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1095134/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/7a4a0315371b4467a065b8add9f7fa11

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