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H. Durmuş · SciRah

Researcher profile · Semantic Scholar

H. Durmuş

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H. Durmuş — researcher profile on SciRah

h-index: 21
Works: 152
Citations: 1,717

Most-cited papers

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
A. Töpf, K. Johnson, Adam K. Bates, L. Phillips +95 more
2020Genetics in Medicine97 citations Open access
Semantic Scholar
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
Merve Çebi, H. Durmuş, F. Aysal, Berker Özkan +11 more
2020Frontiers in Immunology57 citations Open access
Semantic Scholar
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-girdle muscle weakness
K. Johnson, M. Bertoli, L. Phillips, A. Töpf +28 more
2018Skeletal Muscle57 citations Open access
Semantic Scholar
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
R. Scalco, A. Lucía, Alfredo Santalla, A. Martinuzzi +23 more
2020Orphanet Journal of Rare Diseases42 citations Open access
Semantic Scholar
BCMA-directed mRNA CAR T cell therapy for myasthenia gravis: a randomized, double-blind, placebo-controlled phase 2b trial
T. Vu, H. Durmuş, M. Rivner, S. Shroff +26 more
2026Nature Medicine30 citations Open access
Semantic Scholar
Late-onset generalized myasthenia gravis: clinical features, treatment, and outcome
Senay Yildiz Celik, H. Durmuş, V. Yılmaz, Güher Saruhan Direskeneli +3 more
2019Acta Neurologica Belgica27 citations
Semantic Scholar
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.
M. Mroczek, H. Durmuş, S. Bijarnia-Mahay, A. Töpf +7 more
2020Neuromuscular Disorders22 citations
Semantic Scholar
BCMA-directed mRNA CAR-T cell therapy for myasthenia gravis: exploratory biomarker analysis of a placebo-controlled phase 2b trial
Renee R. Fedak, Rachel N Ruggerie, Yufei Shan, Elizabeth J. Curvino +65 more
2026Nature Medicine21 citations Open access
Semantic Scholar
Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis
Barbara Elsnicova, Daniela Hornikova, V. Tibenská, David Kolář +19 more
2022International Journal of Molecular Sciences20 citations Open access
Semantic Scholar
The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype
Ayşe Candayan, G. Yunisova, A. Çakar, H. Durmuş +3 more
2019Neurogenetics20 citations
Semantic Scholar
Thymic gene expression analysis reveals a potential link between HIF-1A and Th17/Treg imbalance in thymoma associated myasthenia gravis
Ilayda Altinönder, M. Kaya, S. Yentür, A. Çakar +6 more
2024Journal of Neuroinflammation19 citations Open access
Semantic Scholar
Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features
M. Mroczek, H. Durmuş, A. Töpf, Y. Parman +1 more
2020Genes19 citations Open access
Semantic Scholar
Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling.
G. Toksoy, H. Durmuş, A. Aghayev, G. Bagirova +13 more
2019Neuromuscular Disorders19 citations
Semantic Scholar
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database
C. Tunca, Tuncay Şeker, F. Akçimen, Cemre Coşkun +39 more
2020Human Mutation18 citations Open access
Semantic Scholar
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice
Atay Vural, G. Şimşir, Ş. Tekgül, Cemile Koçoğlu +68 more
2021Movement Disorders17 citations
Semantic Scholar
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population
K. Johnson, W. De Ridder, A. Töpf, M. Bertoli +19 more
2018Journal of Neurology Neurosurgery & Psychiatry16 citations Open access
Semantic Scholar
Myophosphorylase (PYGM) Mutations Determined by Next Generation Sequencing in a Cohort from Turkey with McArdle Disease
Güldal Inal-Gültekin, Bahar Toptaş-Hekimoğlu, Zeliha Görmez, Özlem Gelişin +15 more
2017Neuromuscular Disorders14 citations Open access
Semantic Scholar
Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3)
H. Durmuş, Elif Mertoglu, H. Sticht, S. Ceylaner +4 more
2021Neurological Sciences13 citations
Semantic Scholar
Cognition of the mothers of patients with Duchenne muscular dystrophy
Hasan Demirci, H. Durmuş, G. Toksoy, A. Uslu +2 more
2020Muscle and Nerve13 citations
Semantic Scholar
Relation of HLA‐DRB1 to IgG4 autoantibody and cytokine production in muscle‐specific tyrosine kinase myasthenia gravis (MuSK‐MG)
Merve Çebi, H. Durmuş, V. Yılmaz, S. Yentür +5 more
2019Clinical and Experimental Immunology13 citations Open access
Semantic Scholar
An Exploratory Study of Cognitive Involvement in Hereditary Transthyretin Amyloidosis
H. Durmuş, A. Çakar, Hasan Demirci, M. Alaylıoğlu +3 more
2021Acta Neurologica Scandinavica11 citations Open access
Semantic Scholar
A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID
F. Akçimen, Atay Vural, H. Durmuş, A. Çakar +3 more
2019Journal of Human Genetics11 citations Open access
Semantic Scholar
Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.
Xin-Ming Shen, J. Brengman, S. Shen, H. Durmuş +7 more
2018JCI Insight11 citations Open access
Semantic Scholar
Repetitive nerve stimulation and jitter measurement with disposable concentric needle electrode in newly diagnosed myasthenia gravis patients.
N. Sirin, Elif Kocasoy Orhan, H. Durmuş, F. Deymeer +1 more
2018Neurophysiologie clinique11 citations
Semantic Scholar
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
E. Rybalka, Hyung Jun Park, A. Nalini, Dipti Baskar +18 more
2024Orphanet Journal of Rare Diseases10 citations
Semantic Scholar
A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia
A. Çakar, Emre Pekbilir, S. Ceylaner, H. Durmuş +3 more
2023Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration9 citations
Semantic Scholar
Eculizumab as a Rescue Therapy in Prolonged Myasthenic Crisis in the Intensive Care Unit: A Case Series
H. Durmuş, A. Çakar, Yesim Gülşen Parman
2025Neurocritical Care6 citations Open access
Semantic Scholar
Clinical and genetic characteristics of Emery-Dreifuss muscular dystrophy patients from Turkey: 30 years longitudinal follow-up study
G. Yunisova, S. Ceylaner, P. Oflazer, F. Deymeer +2 more
2022Neuromuscular Disorders6 citations
Semantic Scholar
Diaphragmatic dysfunction at the first visit to a chest diseases outpatient clinic in 500 patients with amyotrophic lateral sclerosis
A. Pıhtılı, Z. Bingol, H. Durmuş, Y. Parman +1 more
2021Muscle and Nerve6 citations
Semantic Scholar
Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
Ayşe Candayan, A. Çakar, G. Yunisova, A. Ö. Özdağ Acarlı +7 more
2021Neurology: Genetics6 citations Open access
Semantic Scholar
Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder
A. Çakar, Meltem İnci, A. Ö. Özdağ Acarlı, S. Çomu +6 more
2022Acta Neurologica Scandinavica5 citations
Semantic Scholar
Delineating the genetic landscape of Charcot–Marie–tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants
A. Çakar, Ayşe Candayan, Gulandam Bagırova, Z. Uyguner +4 more
2025European Journal of Neurology4 citations
Semantic Scholar
Disease activity in chronic inflammatory demyelinating polyneuropathy: association between circulating B-cell subsets, cytokine levels, and clinical outcomes
A. Ö. Özdağ Acarlı, E. Tuzun, E. Şanlı, Gizem Koral +8 more
2023Clinical and Experimental Immunology4 citations Open access
Semantic Scholar
In vitro modulation of T cells in myasthenia gravis by low‐dose IL‐2
Merve Çebi, A. Çakar, H. Durmuş, O. Akan +3 more
2024European Journal of Immunology3 citations Open access
Semantic Scholar
Electrodiagnostic methods to verify Guillain‐Barré syndrome subtypes in Istanbul: A prospective multicenter study
Volkan Taşdemir, N. Sirin, A. Çakar, Ayla Çulha +38 more
2024Journal of the peripheral nervous system3 citations Open access
Semantic Scholar
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
W. Karazi, R. Scalco, M. Stemmerik, N. Løkken +24 more
2023Orphanet Journal of Rare Diseases3 citations Open access
Semantic Scholar
Disease activity in chronic inflammatory demyelinating polyneuropathy: A comparative study of clinical and skin biopsy markers
Ayşe Nur Özdağ Acarlı, Gökcen Unverengil, N. Sirin, A. Çakar +2 more
2022Muscle and Nerve3 citations
Semantic Scholar
Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (canvas): an important cause of late-onset ataxia with unique clinical features
A. Çakar, Erdi Şahin, Seden Tezel, Ayşe Candayan +7 more
2021Acta Neurologica Belgica3 citations
Semantic Scholar
Increased costimulatory molecule expression of thymic and peripheral B cells and a sensitivity to IL-21 in myasthenia gravis.
M. Hocaoğlu, H. Durmuş, Berker Özkan, S. Yentür +4 more
2018Journal of Neuroimmunology3 citations
Semantic Scholar
The Effect of Aerobic Exercise Training on Patients with Type III Spinal Muscular Atrophy
Sezan Mergen Kilic, Fatma Mutluay, A. Çakar, Murat Giriş +6 more
2025Journal of Clinical Medicine2 citations
Semantic Scholar
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
J. Bevilacqua, Abdullah Al Salti, A. Almadani, Armando Alves da Fonseca +11 more
2024Frontiers in Genetics2 citations Open access
Semantic Scholar
Lumbar Spinal Stenosis: A Rare Presentation of Hereditary Transthyretin Amyloidosis.
A. Çakar, M. Atmaca, D. Kotan, H. Durmuş +3 more
2022Nöropsikiyatri arşivi2 citations Open access
Semantic Scholar
Rare slow channel congenital myasthenic syndromes without repetitive compound muscle action potential and dramatic response to low dose fluoxetine
H. Durmuş, H. Sticht, S. Ceylaner, S. Hashemolhosseini +1 more
2020Acta Neurologica Belgica2 citations
Semantic Scholar
Jitter measurement using a concentric needle in 133 patients with myasthenia gravis: A retrospective analysis
N. Sirin, E. Orhan, H. Durmuş, P. Oflazer +4 more
20172 citations Open access
Semantic Scholar
REM-related obstructive sleep apnoea in neuromuscular diseases: A 10-year retrospective cohort study
Merve Sinem Oğuz, E. Kıyan, A. Pıhtılı, Gokhan Altan +2 more
2026Sleep and Breathing1 citations
Semantic Scholar
Late-onset TK2 deficiency in adults: Long-term clinical outcomes of deoxynucleoside therapy.
H. Durmuş, A. Gedikbaşı, S. Ceylaner, A. Çakar +3 more
2026Mitochondrion (Amsterdam. Print)1 citations
Semantic Scholar
Riboflavin Responsive Slowly Progressive Early Onset Motor Neuron Disease Caused by a Novel Mutation in AIFM1 (P2-11.034)
H. Durmuş, Ebru Erzurumluoğlu, E. Uçar, A. Çakar +3 more
2025Neurology1 citations
Semantic Scholar
Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?
H. Durmuş, C. Clemen, E. Uçar, Andreas Hofmann +7 more
2025Journal of Neuromuscular Diseases1 citations Open access
Semantic Scholar
Editorial: Diagnosis and identification of novel disorders and ultra-rare disorders in science and clinical routine
H. Durmuş
2024Frontiers in Genetics1 citations Open access
Semantic Scholar
Phenotypic features of RETREG1‐related hereditary sensory autonomic neuropathy
A. Çakar, Gulandam Bagırova, H. Durmuş, O. Uyguner +1 more
2023Journal of the peripheral nervous system1 citations
Semantic Scholar

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A. Çakar×23
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