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Scopus Author ID: 7004204118

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Works (43)

Single sural nerve response: A reliable and practical method for diagnosis of diabetic peripheral neuropathy in children with type 1 diabetes

Journal of Diabetes Investigation
2025-03-20 | Journal article
DOI: 10.1111/jdi.70030
Contributors: Hüseyin Bahadır Şenol; Özge Yıldırım Şalbaş; Elif Naz Kadem; Mustafa Halk; Ayşe İpek Polat; Adem Aydın; Ayşe Semra Hız; Korcan Demir; Uluç Yiş
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Crossref

An Unusual Presentation of Leber Hereditary Optic Neuropathy‐Plus Case Caused by a Novel DNAJC30 Variant

American Journal of Medical Genetics Part A
2025-02 | Journal article
DOI: 10.1002/ajmg.a.63902
Contributors: Hüseyin Bahadır Şenol; Didem Soydemir; Ayşe İpek Polat; Adem Aydın; Ayşe Semra Hız; Uluç Yiş
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Crossref

Safety and Efficacy of Nusinersen Focusing on Renal and Hematological Parameters in Spinal Muscular Atrophy

Brain and Behavior
2025-01 | Journal article
DOI: 10.1002/brb3.70221
Contributors: Hüseyin Bahadır Şenol; Gizem Yıldız; Ayşe İpek Polat; Adem Aydın; Ayşe Semra Hız; Alper Soylu; Uluç Yiş
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Crossref

Corrigendum to “Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes” [Europ. J. Paediatr. Neurol. 41 (2022) 8–18 doi.org/10.1016/j.ejpn.2022.08.006, (S1090379822001246), (10.1016/j.ejpn.2022.08.006)]

European Journal of Paediatric Neurology
2024 | Journal article
DOI: 10.1016/j.ejpn.2024.11.006
EID:

2-s2.0-85210942515

Part of ISSN: 15322130 10903798
Contributors: Yılmaz, Ü.; Gücüyener, K.; Yavuz, M.; ˙ Ibrahim Oncel; Canpolat, M.; Saltık, S.; Ünver, O.; Çıtak Kurt, A.N.; Tosun, A.; Yılmaz, S. et al.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Characterization of a novel neurodevelopmental rare disease caused by a mutation within the autophagy geneATG9B

2024-10-29 | Preprint
DOI: 10.1101/2024.10.28.620020
Contributors: Seval Kılıç; Kerem Esmen; A. Miray Oto; T. Bilge Kose; Melike Sever-Bahçekapılı; Emine Eren-Koçak; Şeyda Demir; A. Semra Hız; Gökhan Karakülah; H. Alper Bağrıyanık et al.
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Crossref

Biallelic <i>PTPMT1</i> variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome

Brain
2024-08-30 | Journal article | Author
DOI: 10.1093/brain/awae268
Part of ISSN: 1460-2156
Contributors: Micol Falabella; Chiara Pizzamiglio; Luis Carlos Tabara; Benjamin Munro; Mohamed S Abdel-Hamid; Ece Sonmezler; William Macken; Shanti Lu; Lisa Tilokani; Padraig J Flannery et al.
Source: Self-asserted source
Ayşe Semra Hız via Crossref Metadata Search

Effects of Hemogram Parameters on Remission Durations in Self-Limited Epilepsy with Centrotemporal Spikes

Journal of Pediatric Neurology
2024-06 | Journal article
DOI: 10.1055/s-0043-1770080
Contributors: Çağatay Günay; Gamze Sarıkaya Uzan; Özlem Özsoy; Semra Hız Kurul; Uluç Yiş
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Crossref

Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort

Human Mutation
2024-05-28 | Journal article
DOI: 10.1155/2024/7760556
Contributors: Ece Sönmezler; Cristiana Stuani; Semra Hız Kurul; Serdal Güngör; Emanuele Buratti; Yavuz Oktay
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Crossref

DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature

Molecular Syndromology
2023 | Journal article
DOI: 10.1159/000529494
EID:

2-s2.0-85168134982

Part of ISSN: 16618777 16618769
Contributors: Özsoy, Ö.; Cinleti, T.; Günay, Ç.; Sarlkaya Uzan, G.; Yeşilmen, M.C.; Lochmüller, H.; Horvath, R.; Yiş, U.; Oktay, Y.; Hiz Kurul, S.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Expanding the genotypic and phenotypic spectrum of the SPTBN4 gene mutation: A new variant and dysmorphology

Neurology Asia
2023 | Journal article
DOI: 10.54029/2023unk
EID:

2-s2.0-85174163036

Part of ISSN: 18236138
Contributors: Günay, Ç.; Onay, H.; Bademkiran, F.; Hiz Kurul, S.; Yiş, U.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey

Acta Neurologica Belgica
2023 | Journal article
DOI: 10.1007/s13760-023-02370-3
EID:

2-s2.0-85169314882

Part of ISSN: 22402993 03009009
Contributors: Özsoy, Ö.; Cinleti, T.; Günay, Ç.; Sarıkaya Uzan, G.; Giray Bozkaya, Ö.; Çağlayan, A.O.; Hız Kurul, S.; Yiş, U.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier
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Immunization status of patients with spinal muscular atrophy receiving nusinersen therapy

Archives de Pediatrie
2023 | Journal article
DOI: 10.1016/j.arcped.2023.03.006
EID:

2-s2.0-85156259682

Part of ISSN: 1769664X 0929693X
Contributors: Yeşilmen, M.C.; Günay, Ç.; Sarıkaya Uzan, G.; Özsoy, Ö.; Hız Kurul, S.; Yiş, U.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study

Pediatric Neurology
2023 | Journal article
DOI: 10.1016/j.pediatrneurol.2023.04.018
EID:

2-s2.0-85160102986

Part of ISSN: 18735150 08878994
Contributors: Sarıkaya Uzan, G.; Vural, A.; Yüksel, D.; Aksoy, E.; Öztoprak, Ü.; Canpolat, M.; Öztürk, S.; Yıldırım, Ç.; Güleç, A.; Per, H. et al.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

The fate of spikes in self-limited epilepsy with centrotemporal spikes: Are clinical and baseline EEG features effective?

Epilepsy Research
2023 | Journal article
DOI: 10.1016/j.eplepsyres.2023.107165
EID:

2-s2.0-85159350421

Part of ISSN: 18726844 09201211
Contributors: Günay, Ç.; Sarikaya Uzan, G.; Özsoy, Ö.; Hiz Kurul, S.; Yiş, U.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Retracted: Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort

Epileptic Disorders
2023-12 | Journal article
DOI: 10.1002/epd2.20150
Contributors: Aycan Ünalp; Yiğithan Güzin; Bülent Ünay; Ayşe Tosun; Dilek Çavuşoğlu; Hande Gazeteci Tekin; Semra Hız Kurul; Ebru Arhan; Selvinaz Edizer; Gülten Öztürk et al.
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Crossref

Sural Sparing Pattern and Sensory Ratio as Electrodiagnostic and Prognostic Markers in Pediatric Guillain–Barré Syndrome

Neuropediatrics
2023-02 | Journal article
DOI: 10.1055/a-1941-4513
Contributors: Çağatay Günay; Gamze Sarıkaya Uzan; Semra Hız Kurul; Uluç Yiş
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Crossref

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Brain
2022 | Journal article
DOI: 10.1093/brain/awab395
EID:

2-s2.0-85132110761

Part of ISSN: 14602156 00068950
Contributors: Hiz Kurul, S.; Oktay, Y.; Töpf, A.; Szabó, N.Z.; Güngör, S.; Yaramis, A.; Sonmezler, E.; Matalonga, L.; Yis, U.; Schon, K. et al.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Inflammation and endothelial dysfunction in pediatric migraine patients

Pediatrics International
2022 | Journal article
DOI: 10.1111/ped.14946
EID:

2-s2.0-85131106958

Part of ISSN: 1442200X 13288067
Contributors: Polat, İ.; Karaoğlu, P.; Şişman, A.R.; Yiş, U.; Hız Kurul, S.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Neuromuscular diseases in the pediatric intensive care unit: 11 years of experience from a tertiary children’s hospital

Neurology Asia
2022 | Journal article
DOI: 10.54029/2022nea
EID:

2-s2.0-85134582591

Part of ISSN: 18236138
Contributors: Sarikaya Uzan, G.; Edem, P.; Besci, T.; Paketçi, C.; Evren, G.; Hiz Kurul, S.; Duman, M.; Yiş, U.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Optic neuritis in CD59 deficiency: an extremely rare presentation

Turkish Journal of Pediatrics
2022 | Journal article
DOI: 10.24953/turkjped.2021.1405
EID:

2-s2.0-85137610204

Part of ISSN: 27916421 00414301
Contributors: Günay, Ç.; Yardım, E.; Yaşar, E.; Kurul, A.S.H.; Uzan, G.S.; Öztürk, T.; Yaman, A.; Yiş, U.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes

European Journal of Paediatric Neurology
2022 | Journal article
DOI: 10.1016/j.ejpn.2022.08.006
EID:

2-s2.0-85143379946

Part of ISSN: 15322130 10903798
Contributors: Yılmaz, Ü.; Gücüyener, K.; Yavuz, M.; Öncel, İ.; Canpolat, M.; Saltık, S.; Ünver, O.; Çıtak Kurt, A.N.; Tosun, A.; Yılmaz, S. et al.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Recurrent painful ophthalmoplegic neuropathy: a report of two new pediatric cases

Turkish Journal of Pediatrics
2022 | Journal article
DOI: 10.24953/turkjped.2021.1124
EID:

2-s2.0-85134765243

Part of ISSN: 27916421 00414301
Contributors: Günay, Ç.; Edem, P.; Kurul, A.S.H.; Yaşar, E.; Yiş, U.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study

Neuropediatrics
2022 | Journal article
DOI: 10.1055/a-2034-8528
EID:

2-s2.0-85159693274

Part of ISSN: 14391899 0174304X
Contributors: Günay, Ç.; Aykol, D.; Özsoy, Ö.; Sönmezler, E.; Hanci, Y.S.; Kara, B.; Akkoyunlu Sünnetçi, D.; Cine, N.; Deniz, A.; Özer, T. et al.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Evaluation of electroencephalogram results in patients hospitalized in the pediatric intensive care unit,Çocuk yoğun bakım ünitesinde izlenen olguların elektroensefalografi sonuçlarının geriye dönük olarak değerlendirilmesi

Pamukkale Medical Journal
2021 | Journal article
DOI: 10.31362/patd.822260
EID:

2-s2.0-85160962586

Part of ISSN: 13080865 13099833
Contributors: Ayanoğlu, M.; Yiş, U.; Polat, A.İ.; Köker, A.; Arslan, G.; Kurul, A.S.H.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Risk Factors of Post-Stroke Epilepsy in Children; Experience from a Tertiary Center and a Brief Review of the Literature

Journal of Stroke and Cerebrovascular Diseases
2021 | Journal article
DOI: 10.1016/j.jstrokecerebrovasdis.2020.105438
EID:

2-s2.0-85096103845

Part of ISSN: 15328511 10523057
Contributors: Polat, İ.; Yiş, U.; Ayanoğlu, M.; Okur, D.; Edem, P.; Paketçi, C.; Bayram, E.; Hız Kurul, S.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Clinical predictors of drug-resistant epilepsy in children

TURKISH JOURNAL OF MEDICAL SCIENCES
2021-06-28 | Journal article
DOI: 10.3906/sag-2010-27
Contributors: Pakize KARAOĞLU; Uluç YİŞ; Ayşe İpek POLAT; Müge AYANOĞLU; Semra HIZ
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Crossref

Neuroprotective Effects of Lacosamide and Memantine on Hyperoxic Brain Injury in Rats

Neurochemical Research
2020 | Journal article
DOI: 10.1007/s11064-020-03056-5
EID:

2-s2.0-85085378189

Part of ISSN: 15736903 03643190
Contributors: Polat, İ.; Cilaker Mıcılı, S.; Çalışır, M.; Bayram, E.; Yiş, U.; Ayanoğlu, M.; Okur, D.; Edem, P.; Paketçi, C.; Tuğyan, K. et al.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Electrophysiological subtypes and prognostic factors of childhood Guillain-Barré syndrome

Noropsikiyatri Arsivi
2018 | Journal article
DOI: 10.5152/npa.2017.16996
EID:

2-s2.0-85056507169

Part of ISSN: 13000667
Contributors: Konuşkan, B.; Okuyaz, Ç.; Taşdelen, B.; Hiz Kurul, S.; Anlar, B.; Köse, G.; Tan, H.; İncecik, F.; Serdaroğlu, G.; Özçelik, A.A. et al.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

GPR56 homozygous nonsense mutation p.R271* Associated with phenotypic variability in bilateral frontoparietal polymicrogyria

Turkish Journal of Pediatrics
2018 | Journal article
DOI: 10.24953/turkjped.2018.03.001
EID:

2-s2.0-85057378623

Part of ISSN: 00414301
Contributors: Öncü-öner, T.; Ünalp, A.; Porsuk-Doru, İ.; Ağılkaya, S.; Güleryüz, H.; Saraç, A.; Ergüner, B.; Yüksel, B.; Hız-Kurul, S.; Cingöz, S.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA

Brain and Development
2017 | Journal article
DOI: 10.1016/j.braindev.2016.11.002
EID:

2-s2.0-85006851344

Part of ISSN: 18727131 03877604
Contributors: Karaoglu, P.; Quizon, N.; Pergande, M.; Wang, H.; Polat, A.I.; Ersen, A.; Özer, E.; Willkomm, L.; Hiz Kurul, S.; Heredia, R. et al.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Expanding spectrum of SCN1A-related phenotype with novel mutations

Turkish Journal of Pediatrics
2017 | Journal article
DOI: 10.24953/turkjped.2017.05.010
EID:

2-s2.0-85046255189

Part of ISSN: 00414301
Contributors: Hız-Kurul, S.; Gürsoy, S.; Ayanoğlu, M.; Yiş, U.; Erçal, D.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Occipital cortex dysgenesis with white matter changes due to mutations in Laminin α2

Turkish Journal of Pediatrics
2017 | Journal article
DOI: 10.24953/turkjped.2017.03.018
EID:

2-s2.0-85040820645

Part of ISSN: 00414301
Contributors: Yiş, U.; Dixit, V.; Işıkay, S.; Karakaya, M.; Baydan, F.; Diniz, G.; Polat, İ.; Hız-Kurul, S.; Çırak, S.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

BioMed Research International
2016 | Journal article
DOI: 10.1155/2016/3128735
EID:

2-s2.0-84971418253

Part of ISSN: 23146141 23146133
Contributors: Yis, U.; Baydan, F.; Karakaya, M.; Hiz Kurul, S.; Cirak, S.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

New diagnostic approaches in childhood epilepsy: What has been changed with genetic advances?: Review,Çocukluk Çaǧi Epilepsisinde Yeni Tanisal Yaklaşimlar: Genetik Alanindaki Gelişmeler Neyi Deǧiştirdi?

Turkiye Klinikleri Pediatri
2016 | Journal article
DOI: 10.5336/pediatr.2015-48619
EID:

2-s2.0-84988864788

Part of ISSN: 21468990 13000381
Contributors: Hiz Kurul, S.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

A Multinational Survey on Actual Diagnostics and Treatment of Subacute Sclerosing Panencephalitis

Neuropediatrics
2015 | Journal article
DOI: 10.1055/s-0035-1564618
EID:

2-s2.0-84948085936

Part of ISSN: 14391899 0174304X
Contributors: Häusler, M.; Aksoy, A.; Alber, M.; Altunbasak, S.; Angay, A.; Arsene, O.T.; Craiu, D.; Hartmann, H.; Hiz-Kurul, S.; Ichiyama, T. et al.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

The Paediatric migraine disability assessment score is a useful tool for evaluating prophylactic migraine treatment

Acta Paediatrica, International Journal of Paediatrics
2014 | Journal article
DOI: 10.1111/apa.12752
EID:

2-s2.0-84939536088

Part of ISSN: 16512227 08035253
Contributors: Topcu, Y.; Hiz Kurul, S.; Bayram, E.; Sozmen, K.; Yis, U.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

A case of atypical miller fisher syndrome with negative anti-GQ1b immunoglobulin G and importance of H reflex

Turkish Journal of Pediatrics
2013 | Journal article
EID:

2-s2.0-84880589906

Part of ISSN: 00414301
Contributors: Yiş, U.; Bayram, E.; Topçu, Y.; Karakaya, P.; Hiz-Kurul, S.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Pneumatosis intestinalis due to rotavirus infection in a child with Prader-Willi syndrome

Turkish Journal of Pediatrics
2012 | Journal article
DOI: 10.24953/turkjped.2012.1711
EID:

2-s2.0-84876082104

Part of ISSN: 00414301
Contributors: Yiş, U.; Topçu, Y.; Bayram, E.; Karakaya, P.; Çakmakçi, H.; Hiz-Kurul, S.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Maternal reactions to a child with epilepsy: Depression, anxiety, parental attitudes and family functions

Epilepsy Research
2011 | Journal article
DOI: 10.1016/j.eplepsyres.2011.03.020
EID:

2-s2.0-79960347502

Part of ISSN: 09201211 18726844
Contributors: Pekcanlar Akay, A.; Hiz Kurul, S.; Ozek, H.; Cengizhan, S.; Emiroglu, N.; Ellidokuz, H.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Anti-GQ1b-negative Miller Fisher syndrome presented with one-sided horizontal gaze palsy

Turkish Journal of Pediatrics
2010 | Journal article
EID:

2-s2.0-77956863708

Part of ISSN: 00414301
Contributors: Akinci, G.; Öztura, I.; Hiz-Kurul, S.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Magnetic resonance imaging at first episode in pediatric multiple sclerosis retrospective evaluation according to KIDMUS and lesion dissemination in space criteria

Brain and Development
2010 | Journal article
DOI: 10.1016/j.braindev.2009.07.007
EID:

2-s2.0-77952545689

Part of ISSN: 03877604
Contributors: Kurne, A.; Oguz, K.K.; Oz Aksu, A.; Yarar, C.; Duman, T.; Hiz Kurul, S.; Serdaroglu, A.; Anlar, B.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Two cases with megalencephalic leukoencephalopathy with subcortical cysts and MLC1 mutations in the Turkish population

Turkish Journal of Pediatrics
2010 | Journal article
EID:

2-s2.0-77955478945

Part of ISSN: 00414301
Contributors: Yiş, U.; Scheper, G.C.; Uran, N.; Ünalp, A.; Çakmakçi, H.; Hiz-Kurul, S.; Dirik, E.; van der Knaap, M.S.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier

Clinical, pathological and radiological survey of patients with Leigh syndrome

Minerva Pediatrica
2009 | Journal article
EID:

2-s2.0-73649086564

Part of ISSN: 00264946
Contributors: Yiş, U.; Hiz Kurul, S.; Dirik, E.; Çakmakçi, H.; Özer, E.
Source: Self-asserted source
Ayşe Semra Hız via Scopus - Elsevier
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