Editorial: Diagnosis and identification of novel disorders and ultra-rare disorders in science and clinical routine von Durmus, Hacer

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Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective von Erdem Ozdamar, Sevim, Koc, Ayse Filiz, Durmus Tekce, Hacer, Kotan, Dilcan, Ekmekci, Ahmet Hakan, Sengun, Ihsan Sukru, Yuceyar, Ayse Nur, Uluc, Kayihan

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Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3) von Durmus, Hacer, Mertoğlu, Elif, Sticht, Heinrich, Ceylaner, Serdar, Kulaksızoğlu, Işın Baral, Hashemolhosseini, Said, Uçar, Evren Önay, Parman, Yesim

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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 von Cebi, Merve, Durmus, Hacer, Aysal, Fikret, Ozkan, Berker, Gul, Gizem Engin, Cakar, Arman, Hocaoglu, Mehmet, Mercan, Metin, Yentur, Sibel P., Tutuncu, Melih, Yayla, Vildan, Akan, Onur, Dogan, Oner, Parman, Yesim, Saruhan-Direskeneli, Guher

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

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Muscle magnetic resonance imaging in spinal muscular atrophy type 3: Selective and progressive involvement von Durmus, Hacer, Yilmaz, Ravza, Gulsen‐Parman, Yesim, Oflazer‐Serdaroglu, Piraye, Cuttini, Marina, Dursun, Memduh, Deymeer, Feza

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

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Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients von Mroczek, Magdalena, Durmus, Hacer, Bijarnia-Mahay, Sunita, Töpf, Ana, Ghaoui, Roula, Bryen, Samantha, Duff, Jennifer, England, Eleina, Cooper, Sandra T., MacArthur, Daniel G., Straub, Volker

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Correlations between radiographic spinopelvic parameters and health-related quality of life: A prospective evaluation of 37 patients with facioscapulohumeral muscular dystrophy von Bayram, Serkan, Kendirci, Alper Şükrü, Karalar, Şahin, Durmuş Tekçe, Hacer, Parman, Fatma Yeşim, Akgül, Turgut, Durmaz, Hayati

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Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis von Saruhan-Direskeneli, Güher, Hughes, Travis, Yilmaz, Vuslat, Durmus, Hacer, Adler, Adam, Alahgholi-Hajibehzad, Mahdi, Aysal, Fikret, Yentür, Sibel P, Akalin, Mehmet Ali, Dogan, Oner, Marx, Alexander, Gülsen-Parman, Yesim, Oflazer, Piraye, Deymeer, Feza, Sawalha, Amr H

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Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation von Karazi, Walaa, Scalco, Renata S, Stemmerik, Mads G, Løkken, Nicoline, Lucia, Alejandro, Santalla, Alfredo, Martinuzzi, Andrea, Vavla, Marinela, Reni, Gianluigi, Toscano, Antonio, Musumeci, Olimpia, Kouwenberg, Carlyn V, Laforêt, Pascal, Millán, Beatriz San, Vieitez, Irene, Siciliano, Gabriele, Kühnle, Enrico, Trost, Rebecca, Sacconi, Sabrina, Durmus, Hacer, Kierdaszuk, Biruta, Wakelin, Andrew, Andreu, Antoni L, Pinós, Tomàs, Marti, Ramon, Quinlivan, Ros, Vissing, John, Voermans, Nicol C

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Pulmonary functions and sleep-related breathing disorders in lipid storage disease von Bingöl, Züleyha, Tekce, Hacer Durmuş, Sağcan, Gülseren, Serdaroğlu, Piraye, Kıyan, Esen

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Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb... von Johnson, Katherine, Bertoli, Marta, Phillips, Lauren, Töpf, Ana, Van den Bergh, Peter, Vissing, John, Witting, Nanna, Nafissi, Shahriar, Jamal-Omidi, Shirin, Łusakowska, Anna, Kostera-Pruszczyk, Anna, Potulska-Chromik, Anna, Deconinck, Nicolas, Wallgren-Pettersson, Carina, Strang-Karlsson, Sonja, Colomer, Jaume, Claeys, Kristl G, De Ridder, Willem, Baets, Jonathan, von der Hagen, Maja, Fernández-Torrón, Roberto, Zulaica Ijurco, Miren, Espinal Valencia, Juan Bautista, Hahn, Andreas, Durmus, Hacer, Willis, Tracey, Xu, Liwen, Valkanas, Elise, Mullen, Thomas E, Lek, Monkol, MacArthur, Daniel G, Straub, Volker

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Eculizumab Versus Rituxmab for Acetylcholine Receptor-positive Generalized Myasthenia Gravis: Single-center Experience (P4-11.012) von Durmus, Hacer, Cakar, Arman, Parman, Fatma Yesim

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Long-term follow-up of five families from Turkey with UBQLN2 variants (P10-8.008) von Durmus, Hacer, Cakar, Arman, Parman, Fatma Yesim

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Eculizumab for Acetylcholine Receptor-positive Generalized Myasthenia Gravis: Single Center Experience (P7-8.009) von durmus, Hacer, Çakar, Arman, Parman, Fatma Yesim

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Myasthenia gravis with clinical facilitation: a case series von Atmaca, Murat Mert, Durmus Tekce, Hacer, Kocasoy Orhan, Elif, Baslo, Mehmet Barıs, Deymeer, Feza

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Eculizumab Versus Rituximab for Refractory Antiacetylcholine Receptor Antibody‐Positive Generalized Myasthenia Gravis: A Single‐Center Experience von Durmus, Hacer, Çakar, Arman, Parman, Yesim Gülşen

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Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy von Çakar, Arman, Bagırova, Gulandam, Durmuş, Hacer, Uyguner, Oya, Parman, Yeşim

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Late-onset TK2-Deficiency Patients from Turkey (4517) von Durmus, Hacer, Cakar, Arman, Parman, Yesim

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