Publications by authors named "Laszlo Sztriha"

85Publications

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Authors:
Félixe Pelletier Stefanie Perrier Ferdy K Cayami Amytice Mirchi Stephan Saikali Luan T Tran Nicole Ulrick Kether Guerrero Emmanouil Rampakakis Rosalina M L van Spaendonk Sakkubai Naidu Daniela Pohl William T Gibson Michelle Demos Cyril Goizet Ingrid Tejera-Martin Ana Potic Brent L Fogel Bernard Brais Michel Sylvain Guillaume Sebire Charles Marques Lourenço Joshua L Bonkowsky Coriene Catsman-Berrevoets Pedro S Pinto Sandya Tirupathi Petter Strømme Ton de Grauw Dorota Gieruszczak-Bialek Ingeborg Krägeloh-Mann Hanna Mierzewska Heike Philippi Julia Rankin Tahir Atik Brenda Banwell William S Benko Astrid Blaschek Annette Bley Eugen Boltshauser Drago Bratkovic Klara Brozova Icíar Cimas Christopher Clough Bernard Corenblum Argirios Dinopoulos Gail Dolan Flavio Faletra Raymond Fernandez Janice Fletcher Maria Eugenia Garcia Garcia Paolo Gasparini Janina Gburek-Augustat Dolores Gonzalez Moron Aline Hamati Inga Harting Christoph Hertzberg Alan Hill Grace M Hobson A Micheil Innes Marcelo Kauffman Susan M Kirwin Gerhard Kluger Petra Kolditz Urania Kotzaeridou Roberta La Piana Eriskay Liston William McClintock Meriel McEntagart Fiona McKenzie Serge Melançon Anjum Misbahuddin Mohnish Suri Fernando I Monton Sebastien Moutton Raymond P J Murphy Miriam Nickel Hüseyin Onay Simona Orcesi Ferda Özkınay Steffi Patzer Helio Pedro Sandra Pekic Mercedes Pineda Marfa Amy Pizzino Barbara Plecko Bwee Tien Poll-The Vera Popovic Dietz Rating Marie-France Rioux Norberto Rodriguez Espinosa Anne Ronan John R Ostergaard Elsa Rossignol Rocio Sanchez-Carpintero Anna Schossig Nesrin Senbil Laura K Sønderberg Roos Cathy A Stevens Matthis Synofzik László Sztriha Daniel Tibussek Dagmar Timmann Davide Tonduti Bart P van de Warrenburg Maria Vázquez-López Sunita Venkateswaran Pontus Wasling Evangeline Wassmer Richard I Webster Gert Wiegand Grace Yoon Joost Rotteveel Raphael Schiffmann Marjo van der Knaap Adeline Vanderver Gabriel Á Martos-Moreno Constantin Polychronakos Nicole I Wolf Geneviève Bernard

J Clin Endocrinol Metab 2020 Oct 1. Epub 2020 Oct 1.

Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1210/clinem/dgaa700DOI Listing
October 2020

Cortical foot.

Pract Neurol 2020 Aug 28. Epub 2020 Aug 28.

Neurology Department, King's College Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/practneurol-2020-002544DOI Listing
August 2020

Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.

Brain Dev 2020 Aug 11. Epub 2020 Aug 11.

Department of Pediatrics, University of Szeged, Szeged, Hungary. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2020.07.015DOI Listing
August 2020

Subacute Changes in -Acetylaspartate (NAA) Following Ischemic Stroke: A Serial MR Spectroscopy Pilot Study.

Diagnostics (Basel) 2020 Jul 16;10(7). Epub 2020 Jul 16.

Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience (IoPPN), King's College London, London SE5 8AF, UK.

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http://dx.doi.org/10.3390/diagnostics10070482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7399797PMC
July 2020

Intracerebral haemorrhage and COVID-19: Clinical characteristics from a case series.

Brain Behav Immun 2020 08 7;88:940-944. Epub 2020 Jun 7.

Department of Neurology, King's College Hospital, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.bbi.2020.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7276127PMC
August 2020

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic pathogenic variants.

Neurol Genet 2019 Dec 30;5(6):e369. Epub 2019 Oct 30.

Department of Neurology and Neurosurgery (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Department of Pediatrics (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Division of Clinical and Metabolic Genetics and Division of Neurology (L.G., G.Y.), The Hospital for Sick Children, University of Toronto, Toronto, Canada; Department of Child Neurology (F.K.C., M.S.V.D.K., N.I.W.), Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands; Department of Clinical Genetics (F.K.C., R.M.V.S.), VU University Medical Center, Amsterdam, The Netherlands; Department of Human Genetics (F.K.C.), Center for Biomedical Research, Diponegoro University, Semarang, Indonesia; Department of Pediatrics (L.S.), Faculty of Medicine, University of Szeged, Szeged, Hungary; Child Health and Human Development Program (L.T.T., K.G., G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Division of Medical Genetics, Department of Specialized Medicine (L.T.T., K.G., G.B.), McGill University Health Center, Montreal, Canada; Centre de Référence Neurogénétique (F.H., C.G.), Service de Génétique, CHU Bordeaux, Bordeaux, France; Department of Pediatrics (E.L.F.), Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China; Developmental Neurology Department (S.D.A.), Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy; Neuroscience and Neurorehabilitation Department (G.V.), Bambino Gesu Children's Hospital, Rome, Italy; Center for Pediatric Genomic Medicine (I.T.), Children's Mercy Hospitals and Clinics, Kansas City, MO; University of Missouri-Kansas City School of Medicine (I.T.), Kansas City, MO; Department of Pathology and Laboratory Medicine (I.T.), Children's Mercy Hospitals, Kansas City, MO; Department of Pediatrics (D.M.N.), Section of Medical Genetics, Ochsner for Children, New Orleans, LA; GeneDx (R.P.), Gaithersburg, MD; Division of Neurology (K.S.L.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Department of Pediatric Neurology (E.W.), Birmingham Children's Hospital, Birmingham, United Kingdom; Department of Medical Genetics (T.P.), Telemark Hospital, Skien, Norway; Department of Paediatric Neurology (P.F.), St Georges University Hospital NHS Foundation Trust, London, United Kingdom; Clinical Genetics Service (M.M.), St George's University Hospitals NHS Foundation Trust, London, United Kingdom; Clinical Genetics Department (J.R.), Royal Devon and Exeter Hospital NHS Trust, Exeter, United Kingdom; Department of Neurology and Neurosurgery (R.W.), The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Center of Developmental Neurology (H.P.), Frankfurt, Germany; Department of Neurology (B.V.D.W.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Essen, Germany; Department of Clinical Genetics (A.D., C.S.), Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom; Wellcome Sanger Institute (DDD Study), Wellcome Genome Campus, Cambridge, United Kingdom; Department of Pediatrics (N.T.), Division of Child Neurology, University of Texas Health Science Center, Houston, TX, United States of America; Movement Disorders Center and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ, United States of America; Division of Neurology (S.S.), Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India; Division of Neurology (A.V.), Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America; Department of Child Neurology (D.T.), Neurological Institute C. Besta Foundation IRCCS, Milan, Italy; Department of Functional Genomics (M.S.V.D.K.), VU University, Amsterdam, The Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Laboratory of Molecular Medicine, Bambino Gesu Children's Hospital, Rome, Italy; Laboratoire MRGM, INSERM U1211, University Bordeaux, Bordeaux, France; Université de Bordeaux (S.F.), INSERM U1212, CNRS 5320, Bordeaux, France; and Department of Human Genetics (G.B.), McGill University, Montreal, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927361PMC
December 2019

Early prolonged ambulatory cardiac monitoring in stroke (EPACS): an open-label randomised controlled trial.

Eur J Med Res 2019 Jul 26;24(1):25. Epub 2019 Jul 26.

King's College London NHS Foundation Trust, King's College Hospital, Denmark Hill, London, SE5 9RS, UK.

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http://dx.doi.org/10.1186/s40001-019-0383-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659210PMC
July 2019

Endovascular Therapy for Tandem Occlusion in Acute Ischemic Stroke: Intravenous Thrombolysis Improves Outcomes.

J Clin Med 2019 Feb 10;8(2). Epub 2019 Feb 10.

Department of Neurology, Christian Doppler Medical Center, Paracelsus Medical University, 5020 Salzburg, Austria.

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http://dx.doi.org/10.3390/jcm8020228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407107PMC
February 2019

A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.

J Appl Genet 2019 May 1;60(2):151-162. Epub 2019 Feb 1.

Department of Pediatrics, University of Szeged, Temesvári krt. 35-37, Szeged, 6726, Hungary.

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http://dx.doi.org/10.1007/s13353-019-00486-yDOI Listing
May 2019

Cerebrovascular manifestations of herpes simplex virus infection of the central nervous system: a systematic review.

J Neuroinflammation 2019 Jan 29;16(1):19. Epub 2019 Jan 29.

Department of Neurology, Christian Doppler Medical Center, Paracelsus Medical University, Ignaz-Harrer-Str. 79, 5020, Salzburg, Austria.

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http://dx.doi.org/10.1186/s12974-019-1409-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352343PMC
January 2019

Neutrophil to lymphocyte ratio predicts intracranial hemorrhage after endovascular thrombectomy in acute ischemic stroke.

J Neuroinflammation 2018 Nov 15;15(1):319. Epub 2018 Nov 15.

Department of Neurology, Christian Doppler Medical Center, Paracelsus Medical University, Ignaz-Harrer-Straße 79, 5020, Salzburg, Austria.

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https://jneuroinflammation.biomedcentral.com/articles/10.118
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http://dx.doi.org/10.1186/s12974-018-1359-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237008PMC
November 2018

Contribution of Serum Lipid Profiles to Outcome After Endovascular Thrombectomy for Anterior Circulation Ischemic Stroke.

Mol Neurobiol 2019 Jun 23;56(6):4582-4588. Epub 2018 Oct 23.

Department of Neurology, Christian Doppler Medical Center, Paracelsus Medical University, Ignaz-Harrer-Straße 79, 5020, Salzburg, Austria.

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http://link.springer.com/10.1007/s12035-018-1391-3
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http://dx.doi.org/10.1007/s12035-018-1391-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6505499PMC
June 2019

Idarucizumab in Dabigatran-Treated Patients with Acute Ischemic Stroke Receiving Alteplase: A Systematic Review of the Available Evidence.

CNS Drugs 2017 Sep;31(9):747-757

Department of Neurology, Christian Doppler Medical Center, Paracelsus Medical University Salzburg, Ignaz-Harrer-Str. 79, 5020, Salzburg, Austria.

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http://dx.doi.org/10.1007/s40263-017-0460-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5573762PMC
September 2017

The effect of transcranial direct current stimulation on motor sequence learning and upper limb function after stroke.

Clin Neurophysiol 2017 07 31;128(7):1389-1398. Epub 2017 Mar 31.

Centre of Human and Aerospace Physiological Sciences, King's College London, UK.

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http://dx.doi.org/10.1016/j.clinph.2017.03.036DOI Listing
July 2017

Non-invasive brain stimulation for the lower limb after stroke: what do we know so far and what should we be doing next?

Disabil Rehabil 2017 04 25;39(7):714-720. Epub 2016 Mar 25.

b Department of Stroke & Neurology , Princess Royal University Hospital, King's College Hospital NHS Foundation Trust , London , UK.

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http://dx.doi.org/10.3109/09638288.2016.1161835DOI Listing
April 2017

De Novo Interstitial Microdeletion at 1q32.1 in a 10-Year-Old Boy with Developmental Delay and Dysmorphism.

Case Rep Genet 2016 3;2016:2501741. Epub 2016 Feb 3.

NE Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, Barclay House Levels 5&6, 37 Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1155/2016/2501741DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756132PMC
March 2016

The clinical manifestations of two novel SPAST mutations.

Clin Neurol Neurosurg 2015 Sep 6;136:82-5. Epub 2015 Jun 6.

Department of Neurology, Faculty of Medicine, Albert Szent-Györgyi Clinical Centre, University of Szeged, Szeged, Hungary. Electronic address:

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http://dx.doi.org/10.1016/j.clineuro.2015.05.009DOI Listing
September 2015

Spectrum of neurodevelopmental disabilities: a cohort study in hungary.

J Child Neurol 2015 Mar 26;30(3):344-56. Epub 2014 May 26.

Department of Pediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary

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http://dx.doi.org/10.1177/0883073814532543DOI Listing
March 2015

Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.

J Child Neurol 2015 Apr 20;30(5):627-30. Epub 2013 Sep 20.

Department of Pediatrics, University of Szeged, Szeged, Hungary.

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http://dx.doi.org/10.1177/0883073813494476DOI Listing
April 2015

Determinants of mismatch in acute ischaemic stroke.

J Neurol Sci 2013 Nov 23;334(1-2):10-3. Epub 2013 Aug 23.

Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London, SE5 8AF, United Kingdom; Princess Royal University Hospital, South London Healthcare NHS Trust, Orpington, BR6 8ND, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2013.07.002DOI Listing
November 2013

Congenital myasthenic syndromes and transient myasthenia gravis.

Ideggyogy Sz 2013 May;66(5-6):200-3

Department of Paediatrics, University of Szeged, Szeged.

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May 2013

Aspirin and clopidogrel resistance: possible mechanisms and clinical relevance. Part II: Potential causes and laboratory tests.

Ideggyogy Sz 2013 Jan;66(1-2):15-22

University of Szeged, Albert Szent-Györgyi Clinical Center, Faculty of Medicine, Neurology Department, Szeged, Hungary.

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January 2013

Aspirin and clopidogrel resistance: possible mechanisms and clinical relevance. Part I: Concept of resistance.

Ideggyogy Sz 2012 Nov;65(11-12):377-85

University of Szeged, Albert Szent-Györgyi Clinical Center, Faculty of Medicine, Neurology Department, Szeged.

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November 2012

Birth prevalence of neural tube defects: a population-based study in South-Eastern Hungary.

Childs Nerv Syst 2013 Apr 30;29(4):621-7. Epub 2012 Oct 30.

Department of Paediatrics, Faculty of Medicine, University of Szeged, Temesvári krt 35-37, 6726 Szeged, Hungary.

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http://dx.doi.org/10.1007/s00381-012-1951-1DOI Listing
April 2013

Monitoring brain repair in stroke using advanced magnetic resonance imaging.

Stroke 2012 Nov 25;43(11):3124-31. Epub 2012 Sep 25.

Department of clinical Neuroscience, Institute of Psychiatry, King's College London, Denmark Hill, SE5 8AF, London, UK.

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http://dx.doi.org/10.1161/STROKEAHA.111.649244DOI Listing
November 2012

Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.

J Child Neurol 2012 Dec 8;27(12):1534-40. Epub 2012 Mar 8.

Department of Pediatrics, Clinical Genetic Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary.

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http://dx.doi.org/10.1177/0883073811436326DOI Listing
December 2012

Safety and clinical outcome of thrombolysis in ischaemic stroke using a perfusion CT mismatch between 3 and 6 hours.

PLoS One 2011 10;6(10):e25796. Epub 2011 Oct 10.

Department of Clinical Neuroscience, Institute of Psychiatry, King's College London, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0025796PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3189921PMC
February 2012

Development of visual contour integration in children with migraine without aura.

Cephalalgia 2011 Jul 31;31(9):1048-56. Epub 2011 May 31.

University of Szeged, Hungary.

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http://dx.doi.org/10.1177/0333102411410611DOI Listing
July 2011

European Association of Young Neurologists and Trainees: position paper on teaching courses for Generation Y.

Eur Neurol 2011 27;65(6):352-4. Epub 2011 May 27.

Department of Neurology and Psychiatry, General Hospital of the City of Linz, Linz, Austria.

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https://www.karger.com/Article/FullText/327696
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http://dx.doi.org/10.1159/000327696DOI Listing
October 2011

Corpus callosum anomalies: birth prevalence and clinical spectrum in Hungary.

Pediatr Neurol 2011 Jun;44(6):420-6

Department of Pediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.01.002DOI Listing
June 2011

[Role of carotid stents in stroke prevention].

Authors:
László Sztriha

Ideggyogy Sz 2011 Mar;64(3-4):133-5

Szegedi Tudományegyetem, Neurológiai Klinika, Szeged.

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March 2011

Holoprosencephaly in hungary: birth prevalence and clinical spectrum.

J Child Neurol 2011 Aug 22;26(8):1029-32. Epub 2011 Apr 22.

Department of Paediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary.

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http://dx.doi.org/10.1177/0883073811399095DOI Listing
August 2011

Epidemiology and clinical spectrum of schizencephaly in south-eastern Hungary.

J Child Neurol 2010 Nov 31;25(11):1335-9. Epub 2010 Mar 31.

Department of Paediatrics, University of Szeged, Szeged, Hungary.

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http://dx.doi.org/10.1177/0883073810364854DOI Listing
November 2010

Primary microcephaly in Hungary: epidemiology and clinical features.

Acta Paediatr 2010 May 7;99(5):690-693. Epub 2010 Jan 7.

Department of Paediatrics, Faculty of Medicine, University of Szeged, Szeged and Pándy Kálmán County Hospital, Gyula, Hungary.

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http://dx.doi.org/10.1111/j.1651-2227.2009.01666.xDOI Listing
May 2010

[Stroke prevention: the role of carotid stenting and antithrombotic therapy].

Authors:
László Sztriha

Ideggyogy Sz 2009 May;62(5-6):199-203

Szegedi Tudományegyetem, Neurológiai Klinika, Szeged.

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May 2009

Carotid stenosis and the cognitive function.

J Neurol Sci 2009 Aug 9;283(1-2):36-40. Epub 2009 Mar 9.

Department of Neurology, Albert Szent-Györgyi Clinical Center, University of Szeged, Szeged, Hungary.

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http://linkinghub.elsevier.com/retrieve/pii/S0022510X0900377
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http://dx.doi.org/10.1016/j.jns.2009.02.307DOI Listing
August 2009

Bilateral operculum syndrome in childhood.

J Child Neurol 2009 May 5;24(5):544-50. Epub 2009 Feb 5.

Department of Paediatrics, University of Szeged, Szeged, Hungary.

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http://dx.doi.org/10.1177/0883073808327841DOI Listing
May 2009

Pontocerebellar hypoplasia type 1.

Pediatr Neurol 2008 Oct;39(4):286-8

Division B, Department of Paediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.06.017DOI Listing
October 2008

[Myotubular myopathy. Case report and review of the literature].

Orv Hetil 2007 Sep;148(37):1757-62

Szegedi Tudományegyetem, Altalános Orvostudományi Kar, Pathológiai Intézet.

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http://dx.doi.org/10.1556/OH.2007.28054DOI Listing
September 2007

X-linked myotubular myopathy: report of a case with novel mutation.

J Child Neurol 2007 Apr;22(4):447-51

Department of Histopathology University of Szeged, Szeged, Hungary.

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http://dx.doi.org/10.1177/0883073807301930DOI Listing
April 2007

[Haemodynamic instability induced by carotid stent implantation].

Orv Hetil 2006 Dec;147(52):2515-21

Aneszteziológiai és Intenzív Terápiás Intézet, Altalános Intenzív Részleg, Szeged.

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December 2006

Clinical predictors of intractable childhood epilepsy.

J Psychosom Res 2006 Sep;61(3):343-7

Department of Paediatrics, Faculty Perubatan, Universiti Teknologi MARA, Shah Alam, Selangor, Malaysia.

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http://journals.tubitak.gov.tr/medical/issues/sag-14-44-3/sa
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http://linkinghub.elsevier.com/retrieve/pii/S002239990600343
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http://dx.doi.org/10.1016/j.jpsychores.2006.07.018DOI Listing
September 2006

Hippocampal dysgenesis associated with temporal lobe hypoplasia and arachnoid cyst of the middle cranial fossa.

J Child Neurol 2005 Nov;20(11):926-30

Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates.

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http://dx.doi.org/10.1177/08830738050200111401DOI Listing
November 2005

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

Ann Neurol 2005 Nov;58(5):680-7

Division of Newborn Medicine, Department of Medicine, Children's Hospital Boston and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1002/ana.20616DOI Listing
November 2005

Electroencephalography, Doppler vascular scanning, and single photon emission computed tomography in a child with hydranencephaly and intractable seizures.

J Child Neurol 2005 May;20(5):446-9

Department of Paediatrics, Faculty of Medicine and Health Services, United Arab Emirates University, Tawam Hospital, Al Ain.

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http://dx.doi.org/10.1177/08830738050200051201DOI Listing
May 2005

Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinity.

Am J Med Genet A 2005 Jun;135(2):134-41

Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.30701DOI Listing
June 2005

Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia.

J Child Neurol 2005 Feb;20(2):170-2

Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain.

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http://dx.doi.org/10.1177/08830738050200021301DOI Listing
February 2005

Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.

J Child Neurol 2005 Jan;20(1):57-60

Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University and Tawam Hospital, Al Ain, UAE.

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http://dx.doi.org/10.1177/08830738050200010901DOI Listing
January 2005

Aspirin resistance in stroke: 2004.

J Neurol Sci 2005 Mar 23;229-230:163-9. Epub 2004 Dec 23.

Department of Neurology, Albert Szent-Györgyi Medical and Pharmaceutical Center, University of Szeged, Szeged, Hungary.

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http://dx.doi.org/10.1016/j.jns.2004.11.023DOI Listing
March 2005

Spectrum of corpus callosum agenesis.

Authors:
László Sztriha

Pediatr Neurol 2005 Feb;32(2):94-101

Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1016/j.pediatrneurol.2004.09.007DOI Listing
February 2005

Favorable early outcome of carotid artery stenting without protection devices.

Stroke 2004 Dec 28;35(12):2862-6. Epub 2004 Oct 28.

Department of Neurology, Albert Szent-Györgyi Medical and Pharmaceutical Center, University of Szeged, Semmelweis u. 6, H-6725 Szeged, Hungary.

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http://dx.doi.org/10.1161/01.STR.0000147714.19871.45DOI Listing
December 2004

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

Am J Hum Genet 2004 Dec 4;75(6):979-87. Epub 2004 Oct 4.

Laboratory for Neurogenetics, Department of Neurosciences, University of California-San Diego, La Jolla, CA 92093-0691, USA.

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http://dx.doi.org/10.1086/425985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182159PMC
December 2004

[Mechanism of cough syncope].

Orv Hetil 2004 Aug;145(31):1625-7

Szegedi Tudományegyetem, Szent-Györgyi Albert Orvos- és Gyógyszerésztudományi Centrum, Altalános Orvostudományi Kar, Neurológiai Klinika.

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August 2004

Aspirin and Clopidogrel Resistance.

EJIFCC 2004 Aug 31;15(3):58-60. Epub 2004 Aug 31.

Department of Neurology1, Albert Szent-Györgyi Medical and Pharmaceutical Centre, University of Szeged, Szeged.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6034196PMC
August 2004

Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome.

Am J Med Genet A 2004 Jun;127A(3):313-7

Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.30014DOI Listing
June 2004

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

Am J Hum Genet 2003 Sep 13;73(3):656-62. Epub 2003 Aug 13.

Neurogenetics Laboratory, Division of Pediatric Neurology, Department of Neurosciences, University of California, San Diego, CA, USA.

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http://dx.doi.org/10.1086/378206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180691PMC
September 2003

X-linked hydrocephalus: a novel missense mutation in the L1CAM gene.

Pediatr Neurol 2002 Oct;27(4):293-6

Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain.

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http://dx.doi.org/10.1016/s0887-8994(02)00440-xDOI Listing
October 2002

Bilateral symmetrical frontoparietal polymicrogyria.

Eur J Paediatr Neurol 2002 ;6(4):229-32

Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, United Arab Emirates.

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http://dx.doi.org/10.1053/ejpn.2002.0599DOI Listing
November 2002

L-2-hydroxyglutaric aciduria in two siblings.

Pediatr Neurol 2002 Aug;27(2):141-4

Department of Pediatrics, Faculty of Medicine and Health Sciences; United Arab Emirates University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1016/s0887-8994(02)00405-8DOI Listing
August 2002

Unmasking of absence seizures by carbamazepine.

Clin Pediatr (Phila) 2002 Mar;41(2):119-20

Department of Pediatrics, Faculty of Medicine, UAE University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1177/000992280204100209DOI Listing
March 2002

Temporal lobe epilepsy in children: etiology in a cohort with new-onset seizures.

Epilepsia 2002 Jan;43(1):75-80

Department of Pediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1046/j.1528-1157.2002.24201.xDOI Listing
January 2002