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Author Details

Marios Kaliakatsos
Great Ormond Street Hospital for Children
2006
34
15
PMIDPaper TitleJournal TitlePublished Year
36864284A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.J Hum Genet2023
37557958Translating metagenomics into clinical practice for complex paediatric neurological presentations.J Infect2023
37012667Acute necrotizing encephalopathy of childhood: Prevention is better than cure especially if the cure remains elusive.Dev Med Child Neurol2023
37041080Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic <i>SLC30A9</i> Pathogenic Variants.Neurology2023
35015932Clinical features, investigations, and outcomes of pediatric limbic encephalitis: A multicenter study.Ann Clin Transl Neurol2022
35561731Neurostimulation devices for children: lessons learned.Lancet Child Adolesc Health2022
36177038Case report: Novel treatment regimen for <i>enterovirus</i> encephalitis in SCID.Front Immunol2022
34466801Pathogenic <i>NR2F1</i> variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.Brain Commun2021
33681649Proposal to optimize evaluation and treatment of Febrile infection-related epilepsy syndrome (FIRES): A Report from FIRES workshop.Epilepsia Open2021
32554502Pseudouridylation defect due to <i>DKC1</i> and <i>NOP10</i> mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.Proc Natl Acad Sci U S A2020
33506622Anakinra usage in febrile infection related epilepsy syndrome: an international cohort.Ann Clin Transl Neurol2020
32044693Epilepsy in paediatric patients with Parry-Romberg syndrome: A review of the literature.Seizure2020
32096284KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.J Peripher Nerv Syst2020
32651625Non-congenital viral infections of the central nervous system: from the immunocompetent to the immunocompromised child.Pediatr Radiol2020
32875551Diagnostic algorithm for children presenting with epilepsia partialis continua.Epilepsia2020
30379117Paediatric MOG antibody-associated ADEM with complex movement disorder: A case report.Mult Scler2019
31259196Two Cases of Guillain-Barré Syndrome Variants Presenting With Dysautonomia.Child Neurol Open2019
31446001Centromedian thalamic nuclei deep brain stimulation and Anakinra treatment for FIRES - Two different outcomes.Eur J Paediatr Neurol2019
30854647The spectrum of neuroimaging findings in febrile infection-related epilepsy syndrome (FIRES): A literature review.Epilepsia2019
29759327Immunotherapy-responsive childhood neurodegeneration with systemic and central nervous system inflammation.Eur J Paediatr Neurol2018
27770235Deep sequencing reveals persistence of cell-associated mumps vaccine virus in chronic encephalitis.Acta Neuropathol2017
27041136In response: Comment on outcome following multiple subpial transection in Landau-Kleffner syndrome and related regression.Epilepsia2016
26371981An unusual presentation of paediatric Listeria meningitis with selective spinal grey matter involvement and acute demyelinating polyneuropathy.Eur J Paediatr Neurol2016
26915897Thickening of the optic nerves in metachromatic leucodystrophy: A new MRI finding.Neuroradiol J2016
26337264Outcome following multiple subpial transection in Landau-Kleffner syndrome and related regression.Epilepsia2015
24247994Reversible vigabatrin-induced life-threatening encephalopathy.JAMA Neurol2014
22729384Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.J Neurol2013
25877636Acute disseminated encephalomyelitis associated with positive voltage gated potassium channel complex antibody.Mult Scler Relat Disord2013
19747908Development of novel microarray methodology for the study of mutations in the SERPINA1 and ADRB2 genes--their association with Obstructive Pulmonary Disease and Disseminated Bronchiectasis in Greek patients.Clin Biochem2010
20686492Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.J Hum Genet2010
18452398Association of the CALM1 core promoter polymorphism with knee osteoarthritis in patients of Greek origin.Genet Test2008
17489851Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis.Clin Genet2007
17509552Development of a novel microarray methodology for the study of SNPs in the promoter region of the TNF-alpha gene: their association with obstructive pulmonary disease in Greek patients.Clin Biochem2007
16377215Asporin and knee osteoarthritis in patients of Greek origin.Osteoarthritis Cartilage2006
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Collaborators

Thomas S Jacques
Co-authored papers 3
Jessica L Carpenter
University of Maryland School of Medicine
Co-authored papers 2
Elaine C Wirrell
Mayo Clinic
Co-authored papers 2
Ronny Wickstr??m
Karolinska Institute
Co-authored papers 2
Mark P Gorman
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Sookyong Koh
Children's Hospital Medical Center, University of Nebraska
Co-authored papers 2
Elizabeth M Wells
Children's National Hospital
Co-authored papers 2
Eric T Payne
Alberta Children's Hospital
Co-authored papers 2
Eyal Muscal
Baylor College of Medicine
Co-authored papers 2
Yi-Chen Lai
Jan and Dan Duncan Neurological Research Institute, Baylor College of Medicine
Co-authored papers 2
James J Riviello
Baylor College of Medicine
Co-authored papers 2
Coral M Stredny
Boston Children's Hospital, Harvard Medical School
Co-authored papers 2
Krista Eschbach
Children's Hospital Colorado, University of Colorado Anschutz Medical Campus
Co-authored papers 2
Andreas Brunklaus
University of Glasgow
Co-authored papers 2
Maureen Cleary
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 1
Andrea H N??meth
University of Oxford
Co-authored papers 1
Asif Doja
University of Ottawa
Co-authored papers 1
Kimberly Gilmour
NIHR Great Ormond Street Hospital BRC
Co-authored papers 1
Gavin Arno
Institute of Ophthalmology, University College London
Co-authored papers 1
Tiziana Granata
Fondazione IRCCS Istituto Neurologico Carlo Besta
Co-authored papers 1
Robert A Avery
Children's Hospital of Philadelphia
Co-authored papers 1
Karyn Moshal
Co-authored papers 1
Ki Hyeong Lee
Co-authored papers 1
Hywel J Williams
Cardiff University
Co-authored papers 1
Detlef Bockenhauer
Great Ormond Street Hospital for Children, NHS Foundation Trust
Co-authored papers 1
Susanne Motameny
University of Cologne
Co-authored papers 1
Srishti Nangia
New York-Presbyterian Hospital
Co-authored papers 1
Craig A Press
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Co-authored papers 1
M Wainwright
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Austen Worth
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