The distinct genetic pattern of ALS in Turkey and novel mutations A Özoğuz, Ö Uyan, G Birdal, C Iskender, E Kartal, S Lahut, Ö Ömür, ... Neurobiology of aging 36 (4), 1764. e9-1764. e18, 2015 | 118 | 2015 |
The TREAT‐NMD D uchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia CL Bladen, K Rafferty, V Straub, S Monges, A Moresco, H Dawkins, A Roy, ... Human mutation 34 (11), 1449-1457, 2013 | 115 | 2013 |
Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies G Kayman-Kurekci, B Talim, P Korkusuz, N Sayar, T Sarioglu, I Oncel, ... Neuromuscular Disorders 24 (7), 624-633, 2014 | 89 | 2014 |
Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients H Durmus, SH Laval, F Deymeer, Y Parman, E Kiyan, M Gokyigiti, ... Neurology 76 (3), 227-235, 2011 | 87 | 2011 |
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy RA Kley, P Serdaroglu-Oflazer, Y Leber, Z Odgerel, PFM van der Ven, ... Brain 135 (9), 2642-2660, 2012 | 85 | 2012 |
A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures Y Yıldırım, E Kocasoy Orhan, SA Ugur Iseri, P Serdaroglu-Oflazer, B Kara, ... Human molecular genetics 20 (10), 1886-1892, 2011 | 69 | 2011 |
Differential cytokine changes in patients with myasthenia gravis with antibodies against AChR and MuSK V Yilmaz, P Oflazer, F Aysal, H Durmus, K Poulas, SP Yentur, ... PloS one 10 (4), e0123546, 2015 | 59 | 2015 |
ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population S Lahut, Ö Ömür, Ö Uyan, ZS Ağım, A Özoğuz, Y Parman, F Deymeer, ... Public Library of Science 7 (8), e42956, 2012 | 59 | 2012 |
Association of HLA-DRB1∗ 14,-DRB1∗ 16 and-DQB1∗ 05 with MuSK-myasthenia gravis in patients from Turkey M Alahgholi-Hajibehzad, V Yilmaz, Y Gülsen-Parman, F Aysal, P Oflazer, ... Human immunology 74 (12), 1633-1635, 2013 | 58 | 2013 |
Genetic heterogeneity within the HLA region in three distinct clinical subgroups of myasthenia gravis G Saruhan-Direskeneli, T Hughes, V Yilmaz, H Durmus, A Adler, ... Clinical Immunology 166, 81-88, 2016 | 53 | 2016 |
Regulatory function of CD4+ CD25++ T cells in patients with myasthenia gravis is associated with phenotypic changes and STAT5 signaling: 1, 25-Dihydroxyvitamin D3 modulates the … M Alahgholi-Hajibehzad, P Oflazer, F Aysal, H Durmuş, Y Gülşen-Parman, ... Journal of neuroimmunology 281, 51-60, 2015 | 51 | 2015 |
Muscle magnetic resonance imaging in spinal muscular atrophy type 3: selective and progressive involvement H Durmus, R Yilmaz, Y Gulsen‐Parman, P Oflazer‐Serdaroglu, M Cuttini, ... Muscle & Nerve 55 (5), 651-656, 2017 | 43 | 2017 |
Inspiratory muscle training in late-onset Pompe disease: the effects on pulmonary function tests, quality of life, and sleep quality GK Aslan, BE Huseyinsinoglu, P Oflazer, N Gurses, E Kiyan Lung 194, 555-561, 2016 | 41 | 2016 |
Congenital myasthenic syndromes in Turkey: clinical clues and prognosis with long term follow-up H Durmus, XM Shen, P Serdaroglu-Oflazer, B Kara, Y Parman-Gulsen, ... Neuromuscular Disorders 28 (4), 315-322, 2018 | 40 | 2018 |
Sporadic-inclusion body myositis (s-IBM) is not so prevalent in Istanbul/Turkey: a muscle biopsy based survey PS Oflazer, F Deymeer, Y Parman Acta Myologica 30 (1), 34, 2011 | 37 | 2011 |
B cells produce less IL-10, IL-6 and TNF-α in myasthenia gravis V Yilmaz, P Oflazer, F Aysal, YG Parman, H Direskeneli, F Deymeer, ... Autoimmunity 48 (4), 201-207, 2015 | 36 | 2015 |
Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor Ö Uyan, Ö Ömür, ZS Ağım, A Özoğuz, H Li, Y Parman, F Deymeer, ... PLoS One 8 (8), e72381, 2013 | 36 | 2013 |
Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey H Durmuş-Tekçe, Z Matur, MM Atmaca, M Poda, A Çakar, ÜH Ulaş, ... Neuromuscular Disorders 26 (7), 441-446, 2016 | 34 | 2016 |
Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice H Durmuş, Ö Ayhan, S Çırak, F Deymeer, Y Parman, A Franke, N Eiber, ... Neurology 87 (8), 799-805, 2016 | 32 | 2016 |
Late-onset generalized myasthenia gravis: clinical features, treatment, and outcome S Yildiz Celik, H Durmus, V Yilmaz, G Saruhan Direskeneli, ... Acta Neurologica Belgica 120, 133-140, 2020 | 26 | 2020 |