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Author Details

L??szl?? Sztriha
Albert Szent-Gyorgyi Medical School, University of Szeged
1975
189
35
Nevan J Krogan (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37197783Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in <i>POLR3A</i>, <i>POLR3B</i> and <i>POLR1C</i>.J Med Genet2023
37284702A Recurrent <i>De Novo</i> Variant in <i>EIF2AK2</i> Causes a Hypomyelinating Leukodystrophy.Child Neurol Open2023
36564732Fatal thrombolysis-related intracerebral haemorrhage associated with amyloid-β-related angiitis in a middle-aged patient - case report and literature review.BMC Neurol2022
35653330Prognostic indicators and outcomes of hospitalised COVID-19 patients with neurological disease: An individual patient data meta-analysis.PLoS One2022
35699579Thrombus Distribution in Vaccine-induced Immune Thrombotic Thrombocytopenia after ChAdOx1 nCov-19 Vaccination.Radiology2022
35496458Atrial CARdiac Magnetic resonance imaging in patients with embolic stroke of unknown source without documented Atrial Fibrillation (CARM-AF): Study design and clinical protocol.Heart Rhythm O22022
36506404DWI-FLAIR mismatch guided thrombolysis in patients without large-vessel occlusion: real-world data from a comprehensive stroke centre.Heliyon2022
32798076Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.Brain Dev2021
33857630Cerebral venous sinus thrombosis and thrombocytopenia after COVID-19 vaccination - A report of two UK cases.Brain Behav Immun2021
33884299Ataxia-Pancytopenia Syndrome due to a de Novo <i>SAMD9L</i> Mutation.Neurol Genet2021
34637198Kynurenic acid and kynurenine aminotransferase are potential biomarkers of early neurological improvement after thrombolytic therapy: A pilot study.Adv Clin Exp Med2021
33996189A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.J Pediatr Genet2021
33197544The critical distinction between characterisation and causation in studies of COVID-19-associated cerebrovascular pathology.Brain Behav Immun2021
33272951A Comparison of Chest Radiograph and CTA Apical Pulmonary Findings in Patients Presenting with Suspected Acute Stroke during the COVID-19 Pandemic.AJNR Am J Neuroradiol2021
33005949Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.J Clin Endocrinol Metab2021
32943416COVID-19 Stroke Apical Lung Examination Study: A Diagnostic and Prognostic Imaging Biomarker in Suspected Acute Stroke.AJNR Am J Neuroradiol2021
32525049Intracerebral haemorrhage and COVID-19: Clinical characteristics from a case series.Brain Behav Immun2020
32859691Cortical foot.Pract Neurol2020
32574902Multiple internal border zone infarcts in a patient with COVID-19 and CADASIL.J Neurol Sci2020
32708540Subacute Changes in <i>N</i>-Acetylaspartate (NAA) Following Ischemic Stroke: A Serial MR Spectroscopy Pilot Study.Diagnostics (Basel)2020
30696448Cerebrovascular manifestations of herpes simplex virus infection of the central nervous system: a systematic review.J Neuroinflammation2019
32042905Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variants.Neurol Genet2019
31349792Early prolonged ambulatory cardiac monitoring in stroke (EPACS): an open-label randomised controlled trial.Eur J Med Res2019
31519971Blood pressure characteristics in patients with acute basilar artery occlusion undergoing endovascular thrombectomy.Sci Rep2019
30744174Endovascular Therapy for Tandem Occlusion in Acute Ischemic Stroke: Intravenous Thrombolysis Improves Outcomes.J Clin Med2019
30706430A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.J Appl Genet2019
30353493Contribution of Serum Lipid Profiles to Outcome After Endovascular Thrombectomy for Anterior Circulation Ischemic Stroke.Mol Neurobiol2019
30442159Neutrophil to lymphocyte ratio predicts intracranial hemorrhage after endovascular thrombectomy in acute ischemic stroke.J Neuroinflammation2018
30181650Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.J Hum Genet2018
30146301Sodium Channel SCN3A (Na<sub>V</sub>1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.Neuron2018
27013330Non-invasive brain stimulation for the lower limb after stroke: what do we know so far and what should we be doing next?Disabil Rehabil2017
28410884The effect of transcranial direct current stimulation on motor sequence learning and upper limb function after stroke.Clin Neurophysiol2017
28969385Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.Brain2017
28808918Idarucizumab in Dabigatran-Treated Patients with Acute Ischemic Stroke Receiving Alteplase: A Systematic Review of the Available Evidence.CNS Drugs2017
26955491De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism.Case Rep Genet2016
24056153Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.J Child Neurol2015
26297806Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.Elife2015
26151409Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.Nat Commun2015
26086985The clinical manifestations of two novel SPAST mutations.Clin Neurol Neurosurg2015
26166481Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.Am J Hum Genet2015
24868008Spectrum of neurodevelopmental disabilities: a cohort study in hungary.J Child Neurol2015
24524299EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.Orphanet J Rare Dis2014
24886560Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.Orphanet J Rare Dis2014
24599607Clinical presentation and outcome in a series of 88 patients with the cblC defect.J Inherit Metab Dis2014
23108919Birth prevalence of neural tube defects: a population-based study in South-Eastern Hungary.Childs Nerv Syst2013
23909021Congenital myasthenic syndromes and transient myasthenia gravis.Ideggyogy Sz2013
24011290Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases.Mol Cytogenet2013
23978421Determinants of mismatch in acute ischaemic stroke.J Neurol Sci2013
23607225Aspirin and clopidogrel resistance: possible mechanisms and clinical relevance. Part II: Potential causes and laboratory tests.Ideggyogy Sz2013
23284067Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.Neurology2013
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Collaborators

Lihadh Al-Gazali
College of Medicine and Health Sciences, United Arab Emirates University
Co-authored papers 25
Joseph G Gleeson
University of California
Co-authored papers 7
Enza Maria Valente
University of Pavia
Co-authored papers 6
Eugen Boltshauser
Children's University Hospital
Co-authored papers 5
Enrico Bertini
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 5
William B Dobyns
University of Minnesota
Co-authored papers 5
H??lya Kayserili
Istanbul University
Co-authored papers 5
Jennifer L Silhavy
University of California
Co-authored papers 4
Philippe Frossard
Co-authored papers 4
Sarah E Marsh
University of Wisconsin
Co-authored papers 4
Christopher A Walsh
Broad Institute of MIT and Harvard
Co-authored papers 4
Bruno Dallapiccola
Co-authored papers 4
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 3
Petter Str??mme
University of Oslo
Co-authored papers 3
Francesco Muntoni
UCL Great Ormond Street Institute of Child Health
Co-authored papers 2
Sakkubai Naidu
Kennedy Krieger Institute, Johns Hopkins Medical Institutions
Co-authored papers 2
Elliott H Sherr
Co-authored papers 2
Jennifer N Partlow
Boston Children's Hospital
Co-authored papers 2
Fiona Stewart
Belfast City Hospital
Co-authored papers 2
Heymut Omran
University Hospital Muenster
Co-authored papers 2
Gareth J Barker
Institute of Psychiatry, King's College London
Co-authored papers 2
Marta Romani
Sapienza University of Rome
Co-authored papers 1
Jeremy F Reiter
Cardiovascular Research Institute
Co-authored papers 1
Ghada M H Abdel-Salam
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 1
Joanna C Jen
university of california los angeles Medical School
Co-authored papers 1
Clare V Logan
Co-authored papers 1
Stacey Gabriel
Broad Institute of MIT and Harvard
Co-authored papers 1
Sahar Mansour
St George's University Hospitals NHS Foundation Trust
Co-authored papers 1
Colin A Johnson
University of Leeds Leeds Institute of Medical Research at St James's
Co-authored papers 1
Alexis Leigh Krup
Gladstone Institutes, University of California san francisco
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