Publications by authors named "Kshitij Mankad"

100Publications

Skull fractures in abusive head trauma: a single centre experience and review of the literature.

Childs Nerv Syst 2020 Sep 15. Epub 2020 Sep 15.

Department of Radiology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1007/s00381-020-04870-6DOI Listing
September 2020

Case report: Unilateral optic nerve aplasia and developmental hemi-chiasmal dysplasia with VEP misrouting.

Doc Ophthalmol 2020 Aug 27. Epub 2020 Aug 27.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, Great Ormond Street, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s10633-020-09788-7DOI Listing
August 2020

Relapsing Demyelinating Syndromes in Children: A Practical Review of Neuroradiological Mimics.

Front Neurol 2020 4;11:627. Epub 2020 Aug 4.

Department of Radiology, Great Ormond Street Hospital, London, United Kingdom.

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http://dx.doi.org/10.3389/fneur.2020.00627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7417677PMC
August 2020

Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.

Neurol Genet 2020 Aug 13;6(4):e482. Epub 2020 Jul 13.

North of England Paediatric Primary Ciliary Dyskinesia Management Service (E.A.R., E.F.M., D.P.), Leeds General Infirmary, Great George Street, UK; Department of Radiology (L.D., W.D., M.B., K.M.), Great Ormond Street Hospital for Children, London, UK; Centre for PCD Diagnosis and Research (R.A.H., A.R., C.O.), Department of Respiratory Sciences, University of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, UK; Birmingham Women's and Children's Hospital (L.C., P.K.), Steelhouse Lane, Birmingham, UK; Genetics and Genomic Medicine Programme (M.F., H.M.), University College London, UCL Great Ormond Street Institute of Child Health, London, UK; Department of Human Genetics (M.F.), Medical Research Institute, Alexandria University, El- Hadra, Alexandria, Egypt; The North of England Adult Primary Ciliary Dyskinesia Management service, St James's University Hospital, Leeds, UK; and UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC (C.O.), London, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371369PMC
August 2020

Monogenetic Stroke Syndromes in Children and Young Adults.

AJR Am J Roentgenol 2020 Sep 8;215(3):695-705. Epub 2020 Jul 8.

Great Ormond St Hospital for Children NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.2214/AJR.19.22360DOI Listing
September 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 Aug 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

Intracranial calcifications in childhood: Part 1.

Pediatr Radiol 2020 09 30;50(10):1424-1447. Epub 2020 Jul 30.

Department of Radiology, Division of Neuroradiology, Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s00247-020-04721-1DOI Listing
September 2020

Sustaining education in the age of COVID-19: a survey of synchronous web-based platforms.

Quant Imaging Med Surg 2020 Jul;10(7):1422-1427

Department of Radiology, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.21037/qims-20-714DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358414PMC
July 2020

Intracranial calcifications in childhood: Part 2.

Pediatr Radiol 2020 09 8;50(10):1448-1475. Epub 2020 Jul 8.

Division of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/s00247-020-04716-yDOI Listing
September 2020

Rise in the incidence of abusive head trauma during the COVID-19 pandemic.

Arch Dis Child 2020 Jul 2. Epub 2020 Jul 2.

Department of Radiology, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK

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http://dx.doi.org/10.1136/archdischild-2020-319872DOI Listing
July 2020

Virtual multidisciplinary team meetings in the age of COVID-19: an effective and pragmatic alternative.

Quant Imaging Med Surg 2020 Jun;10(6):1204-1207

Department of Radiology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.21037/qims-20-638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7276359PMC
June 2020

Epilepsy surgery in children: what the radiologist needs to know.

Neuroradiology 2020 Sep 20;62(9):1061-1078. Epub 2020 May 20.

Department of Radiology, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond St, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00234-020-02448-2DOI Listing
September 2020

Solving the hypomyelination conundrum - Imaging perspectives.

Eur J Paediatr Neurol 2020 Jul 22;27:9-24. Epub 2020 Apr 22.

Great Ormond Street Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2020.04.007DOI Listing
July 2020

COVID-19: A primer for Neuroradiologists.

Neuroradiology 2020 Jun;62(6):647-648

Head, Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1007/s00234-020-02437-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7186113PMC
June 2020

Spinal dysraphisms: highlighting discrepancies in the current literature and emphasizing on the need for a consensus.

Quant Imaging Med Surg 2020 Mar;10(3):549-553

Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.21037/qims.2020.02.04DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136728PMC
March 2020

Predicting outcome in childhood diffuse midline gliomas using magnetic resonance imaging based texture analysis.

J Neuroradiol 2020 Mar 14. Epub 2020 Mar 14.

University College London Hospital, 235 Euston Road, Bloomsbury, London NW1 2BU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurad.2020.02.005DOI Listing
March 2020

Precision neuroimaging in cerebral palsy: are we there yet?

Authors:
Kshitij Mankad

Dev Med Child Neurol 2020 05 11;62(5):546-547. Epub 2020 Feb 11.

Department of Neuroradiology, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1111/dmcn.14482DOI Listing
May 2020

A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration.

J Neurol Sci 2020 03 19;410:116639. Epub 2019 Dec 19.

Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Center for Neurology and Hertie Institute for Clinical Brain Research, Eberhard Karls-University, Tübingen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2019.116639DOI Listing
March 2020

Simultanagnosia as a cause of visual disturbance following Posterior Reversible Encephalopathy Syndrome (PRES): A case report.

Indian J Ophthalmol 2020 01;68(1):254-256

Department of Paediatric Neuro-Radiology Consultant Radiologist, Great Ormond Street Hospital, London, United Kingdom.

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http://dx.doi.org/10.4103/ijo.IJO_807_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6951156PMC
January 2020

Neuroimaging Spectrum of Inherited Neurotransmitter Disorders.

Neuropediatrics 2020 02 21;51(1):6-21. Epub 2019 Oct 21.

Department of Diagnostic Imaging, National University Health System, Singapore, Singapore.

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http://dx.doi.org/10.1055/s-0039-1698422DOI Listing
February 2020

Our experience of subgaleal haematoma due to hair pulling.

Acta Paediatr 2020 02 8;109(2):426. Epub 2019 Oct 8.

Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1111/apa.15033DOI Listing
February 2020

White matter microstructural abnormalities in children with severe congenital hypothyroidism.

Neuroimage Clin 2019 10;24:101980. Epub 2019 Aug 10.

Developmental Imaging and Biophysics Section, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1016/j.nicl.2019.101980DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6713841PMC
September 2020

Improved performance of the 2017 McDonald criteria for diagnosis of multiple sclerosis in children in a real-life cohort.

Mult Scler 2019 Jul 18:1352458519863781. Epub 2019 Jul 18.

Queen Square Multiple Sclerosis Centre, Department of Neuroinflammation, UCL Queen Square Institute of Neurology, Faculty of Brain Sciences, University College London, London, UK/Department of Radiology and Nuclear Medicine, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1177/1352458519863781DOI Listing
July 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

mutation in an infant with Ohtahara syndrome and neuroimaging findings: expanding the phenotype of neuronal migration disorders.

J Genet 2019 06;98(2)

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London SW10 9NH, UK.

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June 2019

Lower Lid Mass in a Neonate.

Ann Acad Med Singap 2019 Feb;48(2):69-71

Department of Diagnostic Imaging, National University Health System, Singapore.

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February 2019

Arterial spin labelling and diffusion-weighted imaging in paediatric brain tumours.

Neuroimage Clin 2019 29;22:101696. Epub 2019 Jan 29.

Developmental Imaging & Biophysics Section, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S22131582193004
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http://dx.doi.org/10.1016/j.nicl.2019.101696DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365981PMC
January 2020

The neuroimaging mimics of abusive head trauma.

Eur J Paediatr Neurol 2019 Jan 22;23(1):19-30. Epub 2018 Nov 22.

Department of Neuroradiology, SickKids, 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.ejpn.2018.11.006DOI Listing
January 2019

Haemostatic material (Surgicel) mimicking residual tumour: magnetic resonance imaging findings in operated pediatric neuro-oncology cases.

Quant Imaging Med Surg 2018 Oct;8(9):971-978

Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.21037/qims.2018.09.04DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218210PMC
October 2018

Ocular and Intracranial MR Imaging Findings in Abusive Head Trauma.

Top Magn Reson Imaging 2018 Dec;27(6):503-514

Professor of Radiology, University of Pittsburgh School of Medicine, Director of Pediatric Neuroradiology, Children Hospital of Pittsburgh, Pittsburgh, PA.

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http://dx.doi.org/10.1097/RMR.0000000000000169DOI Listing
December 2018

Tubulinopathies.

Top Magn Reson Imaging 2018 Dec;27(6):395-408

Neuroimaging Lab, Scientific Institute, IRCCS E. Medea Bosisio Parini, Italy.

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http://Insights.ovid.com/crossref?an=00002142-201812000-0000
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http://dx.doi.org/10.1097/RMR.0000000000000188DOI Listing
December 2018

A unique case of CHARGE syndrome with craniosynostosis.

Childs Nerv Syst 2019 01 29;35(1):11-13. Epub 2018 Nov 29.

Neuroradiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

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http://link.springer.com/10.1007/s00381-018-4005-5
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http://dx.doi.org/10.1007/s00381-018-4005-5DOI Listing
January 2019

Current concepts and challenges in the radiologic assessment of brain tumors in children: part 2.

Pediatr Radiol 2018 12 13;48(13):1844-1860. Epub 2018 Sep 13.

Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1007/s00247-018-4232-7DOI Listing
December 2018

Comprehensive genotype-phenotype correlation in lissencephaly.

Quant Imaging Med Surg 2018 Aug;8(7):673-693

Department of Neuroradiology, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

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http://qims.amegroups.com/article/view/21042/20639
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http://dx.doi.org/10.21037/qims.2018.08.08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127521PMC
August 2018

Differential diagnosis of posterior fossa tumours in children: new insights.

Pediatr Radiol 2018 12 17;48(13):1955-1963. Epub 2018 Aug 17.

Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, UK.

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http://link.springer.com/10.1007/s00247-018-4224-7
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http://dx.doi.org/10.1007/s00247-018-4224-7DOI Listing
December 2018

Macrocephaly: Solving the Diagnostic Dilemma.

Top Magn Reson Imaging 2018 Aug;27(4):197-217

Perinatal Imaging and Health Department, St Thomas' Hospital, London, United Kingdom.

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http://dx.doi.org/10.1097/RMR.0000000000000170DOI Listing
August 2018

Neurometabolic Disorders of the Newborn.

Top Magn Reson Imaging 2018 Aug;27(4):179-196

Department of Neuroradiology, King's College Hospital, London, UK.

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http://dx.doi.org/10.1097/RMR.0000000000000176DOI Listing
August 2018

Clinico-radiological approach to cerebral hemiatrophy.

Childs Nerv Syst 2018 12 6;34(12):2377-2390. Epub 2018 Aug 6.

Department of Neuroradiology, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, United Kingdom.

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http://dx.doi.org/10.1007/s00381-018-3934-3DOI Listing
December 2018

Imaging Genomics of Embryonal Tumors of the Central Nervous System.

Radiographics 2018 Jul-Aug;38(4):1286

Department of Radiology, Great Ormond Street Hospital NHS Trust, London, England.

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http://dx.doi.org/10.1148/rg.2018180116DOI Listing
July 2018

Current concepts in radiologic assessment of pediatric brain tumors during treatment, part 1.

Pediatr Radiol 2018 12 6;48(13):1833-1843. Epub 2018 Jul 6.

Department of Radiology, Children's Hospital Los Angeles, Los Angeles, CA, USA.

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http://link.springer.com/10.1007/s00247-018-4194-9
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http://dx.doi.org/10.1007/s00247-018-4194-9DOI Listing
December 2018

Neuroimaging in Juvenile Alexander Disease: Tumour-like Brainstem Lesions.

Ann Acad Med Singap 2018 05;47(5):191-193

Department of Diagnostic Imaging, National University Hospital, National University Health System, Singapore.

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May 2018

Intracranial hemorrhage in neonates: A review of etiologies, patterns and predicted clinical outcomes.

Eur J Paediatr Neurol 2018 Jul 24;22(4):690-717. Epub 2018 Apr 24.

Department of Radiology, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond St, London WC1N 3JH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.04.008DOI Listing
July 2018

Adams Oliver syndrome with cerebellar cortical dysplasia.

Childs Nerv Syst 2018 06 22;34(6):1109-1110. Epub 2018 Apr 22.

Department of Neuroradiology, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.

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http://link.springer.com/10.1007/s00381-018-3810-1
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http://dx.doi.org/10.1007/s00381-018-3810-1DOI Listing
June 2018

Selective dorsal rhizotomy: current state of practice and the role of imaging.

Quant Imaging Med Surg 2018 Mar;8(2):209-218

Victorian Paediatric Rehabilitation Service, Royal Children's Hospital, Melbourne, Australia.

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http://qims.amegroups.com/article/view/18500/18948
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http://dx.doi.org/10.21037/qims.2018.01.08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891677PMC
March 2018

Cerebellar atrophy with T2/FLAIR hyperintense cerebellar cortex: a new imaging phenotype of combined complex II/III deficiency.

Childs Nerv Syst 2018 04 27;34(4):601-603. Epub 2018 Feb 27.

Department of Neuroradiology, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.

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http://link.springer.com/10.1007/s00381-018-3762-5
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http://dx.doi.org/10.1007/s00381-018-3762-5DOI Listing
April 2018

'Leukodystrophy-like' phenotype in children with myelin oligodendrocyte glycoprotein antibody-associated disease.

Dev Med Child Neurol 2018 04 30;60(4):417-423. Epub 2017 Dec 30.

Department of Paediatric Neurology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1111/dmcn.13649DOI Listing
April 2018

Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant with PRRT2 Gene Mutation.

Indian J Pediatr 2018 08 18;85(8):690. Epub 2017 Dec 18.

Department of Pediatric Neurology, Chelsea and Westminster Hospital, NHS Foundation Trust, Imperial College University, 369 Fulham Road, London, SW10 9NH, UK.

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http://dx.doi.org/10.1007/s12098-017-2568-xDOI Listing
August 2018

Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies.

Childs Nerv Syst 2018 02 2;34(2):205-216. Epub 2017 Dec 2.

Department of Neuroradiology, Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00381-017-3670-0DOI Listing
February 2018

Intraventricular Glioblastoma Multiforme in A Child with L2-Hydroxyglutaric Aciduria.

World Neurosurg 2018 Feb 26;110:288-290. Epub 2017 Nov 26.

Department of Neuroradiology, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S18788750173202
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http://dx.doi.org/10.1016/j.wneu.2017.11.106DOI Listing
February 2018

Melanotic neuroectodermal tumour of infancy: A case report and differential diagnosis.

Neuroradiol J 2018 Aug 10;31(4):434-439. Epub 2017 Nov 10.

4 Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, UK.

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http://dx.doi.org/10.1177/1971400917741770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6111430PMC
August 2018

A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation.

Childs Nerv Syst 2018 01 24;34(1):23-25. Epub 2017 Oct 24.

Great Ormond Street Hospital NHS Foundation Trust, Great Ormond St, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00381-017-3646-0DOI Listing
January 2018

Diagnostic algorithm for relapsing acquired demyelinating syndromes in children.

Neurology 2017 Jul 14;89(3):269-278. Epub 2017 Jun 14.

From the Department of Paediatric Neurology (Y.H., C.H.), Great Ormond Street Hospital for Children; Department of Neuroinflammation (Y.H., O.C.), Queen Square MS Centre, UCL Institute of Neurology; Department of Clinical Neuroscience (Y.H.), UCL Institute of Child Health; Paediatric Neuroradiology (K.M., W.K.C.), Great Ormond Street Hospital; Institutes of Neurology and Biomedical Engineering (F.B.), University College London, UK; Department of Radiology and Nuclear Medicine (F.B.), VU University Medical Centre, Amsterdam, the Netherlands; Nuffield Department of Clinical Neurosciences (A.V.), John Radcliffe Hospital, University of Oxford; Children's Neurosciences (M.L.), Evelina London Children's Hospital at Guy's and St Thomas' NHS Foundation Trust, King's Health Partners Academic Health Science Centre, London; and Department of Paediatric Neurology (E.W.), Birmingham Children's Hospital, Birmingham, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004117DOI Listing
July 2017

Impact of induction chemotherapy, hyperfractionated accelerated radiotherapy and high-dose thiotepa on brain volume loss and functional status of children with primitive neuroectodermal tumour.

Pediatr Blood Cancer 2017 Nov 16;64(11). Epub 2017 May 16.

Department of Paediatric Oncology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

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http://doi.wiley.com/10.1002/pbc.26619
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http://dx.doi.org/10.1002/pbc.26619DOI Listing
November 2017

Headache outcomes in children undergoing foramen magnum decompression for Chiari I malformation.

Arch Dis Child 2017 Mar 4;102(3):238-243. Epub 2017 Jan 4.

Department of Neurosurgery, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1136/archdischild-2016-310662DOI Listing
March 2017

Mixed vascular nevus syndrome: a report of four new cases and a literature review.

Quant Imaging Med Surg 2016 Oct;6(5):515-524

Department of Medical and Surgical Sciences and Advanced Technologies "G. F. Ingrassia", Section of Radiology, University of Catania, Catania, Italy.

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http://dx.doi.org/10.21037/qims.2016.10.09DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130559PMC
October 2016

Isolated macrocerebellum: description of six cases and literature review.

Quant Imaging Med Surg 2016 Oct;6(5):496-503

Department of Advanced Biomedical Sciences, Federico II University of Naples, Naples, Italy.

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http://dx.doi.org/10.21037/qims.2016.06.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130573PMC
October 2016

Initial response with paradoxical deterioration following bevacizumab for cerebral radiation necrosis.

Pediatr Blood Cancer 2017 05 2;64(5). Epub 2016 Nov 2.

Department of Paediatric Oncology, Great Ormond Street Hospital, London, United Kingdom.

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http://dx.doi.org/10.1002/pbc.26313DOI Listing
May 2017

A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus-Merzbacher disease: A new MRI finding.

Brain Dev 2017 Mar 25;39(3):271-274. Epub 2016 Oct 25.

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2016.09.012DOI Listing
March 2017

Central nervous system aspergillosis resembling haemorrhagic brain infarct in a paediatric leukaemia patient.

Br J Haematol 2017 08 29;178(4):642-645. Epub 2016 Jun 29.

Department of Paediatric Haematology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1111/bjh.14161DOI Listing
August 2017

The imaging of osteomyelitis.

Quant Imaging Med Surg 2016 Apr;6(2):184-98

1 Department of Radiology, Chelsea and Westminster Hospital NHS Foundation Trust, London, UK ; 2 Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://qims.amegroups.com/article/view/9839/10918
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http://dx.doi.org/10.21037/qims.2016.04.01DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4858469PMC
April 2016

RARS2 mutations in a sibship with infantile spasms.

Epilepsia 2016 May 8;57(5):e97-e102. Epub 2016 Apr 8.

Molecular Neurosciences, Developmental Neurosciences Programme, UCL-Institute of Child Health, London, United Kingdom.

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http://dx.doi.org/10.1111/epi.13358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864753PMC
May 2016

Delineation of the movement disorders associated with FOXG1 mutations.

Neurology 2016 05 30;86(19):1794-800. Epub 2016 Mar 30.

From Molecular Neurosciences (A.P., J.N., E.M., A.M., A.N., S.S.M., B.P.-D., M.A.K.), Developmental Neurosciences Programme, University College London-Institute of Child Health; Departments of Neurology (A.P., C.H., R.R., S.M.V., M.A.K.) and Neuroradiology (K.M.), Department of Molecular Genetics, North East Thames Regional Genetics Services (N.T., L.J.), and Department of Clinical Genetics (R.H.S., J.A.H.), Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Department of Neurology (R.B.S., E.F.A., A.R.P.), Center for Human Experimental Therapeutics (E.F.A.), and Departments of Pediatrics and Biomedical Genetics (A.R.P.), University of Rochester Medical Center, NY; Gene Transfer Technology Group (J.N.), UCL-Institute for Women's Health, London; Departments of Paediatric Neurology (M.K., V.S.) and Paediatrics (M.C.O.), Chelsea and Westminster NHS Foundation Trust, London; Department of Perinatal Neurology (S.N.B.), Hammersmith Hospital, London, UK; Institute for Neuroscience and Muscle Research (R.I.W.), Department of Neurology (R.I.W.), and Neuroimmunology Group, Institute for Neuroscience and Muscle Research (S.S.M.), The Children's Hospital at Westmead, Sydney, Australia; Child Development Centre (S.P., M.M.) and South West Thames Regional Genetics Service (F.E.), St George's University Hospitals NHS Foundation Trust, London, UK; and Department of Child Neurology (B.P.-D.) and Centre for Biomedical Research in Rare Diseases (CIBERER-ISCIII) (B.P.-D.), Hospital Sant Joan de Déu, Universitat de Barcelona, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000002585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862244PMC
May 2016

Metaphyseal dysplasia associated with chronic facial nerve palsy.

Childs Nerv Syst 2016 Jul 4;32(7):1333-6. Epub 2016 Feb 4.

Pediatric Neurology Department, Chelsea and Westminister Hospital, 369 Fulham Road, London, SW109NH, UK.

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http://dx.doi.org/10.1007/s00381-016-3021-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947474PMC
July 2016

Vascular anomalies of the head and neck in children.

Quant Imaging Med Surg 2015 Dec;5(6):886-97

1 Lysholm Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK ; 2 Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK ; 3 Department of Radiology, Chelsea & Westminster Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.3978/j.issn.2223-4292.2015.04.06DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700245PMC
December 2015

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.

Eur J Paediatr Neurol 2016 May 11;20(3):483-8. Epub 2016 Jan 11.

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, 369 Fulham Road, London, SW10 9NH, United Kingdom; The Portland Hospital for Women and Children, 205-209 Great Portland St, London, W1W 5AH, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.12.016DOI Listing
May 2016

Proteus syndrome: evaluation of the immunological profile.

Orphanet J Rare Dis 2016 Jan 13;11. Epub 2016 Jan 13.

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Piazzale Spedali Civili 1, Brescia, 25123, Italy.

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http://dx.doi.org/10.1186/s13023-015-0381-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4711050PMC
January 2016

Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings.

Insights Imaging 2016 Feb 10;7(1):69-76. Epub 2015 Dec 10.

Department of Radiology, Royal London Hospital, Barts Health NHS Trust, London, UK.

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http://dx.doi.org/10.1007/s13244-015-0454-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729717PMC
February 2016

Neuroimaging of Non-Accidental Injury.

Curr Pediatr Rev 2015 ;11(4):262-77

St Bartholomew's and the Royal London Hospitals, UK.

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http://dx.doi.org/10.2174/1573396311666150729121620DOI Listing
July 2016

Risk management in radiology departments.

World J Radiol 2015 Jun;7(6):134-8

Horea Craciun, University Hospitals of Morecambe Bay NHS Trust, LA1 4RP Lancaster, United Kingdom.

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http://www.wjgnet.com/1949-8470/full/v7/i6/134.htm
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http://dx.doi.org/10.4329/wjr.v7.i6.134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4473307PMC
June 2015

Genetic heterogeneity for SMARCB1, H3F3A and BRAF in a malignant childhood brain tumour: genetic-pathological correlation.

Neuropathol Appl Neurobiol 2015 Oct 14;41(6):832-6. Epub 2015 Jul 14.

Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://doi.wiley.com/10.1111/nan.12257
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http://dx.doi.org/10.1111/nan.12257DOI Listing
October 2015

Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype.

Quant Imaging Med Surg 2015 Jun;5(3):476-9

1 Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK ; 2 BUPA Cromwell Hospital, London, UK ; 3 St Mary's Hospital, Imperial College NHS trust, London, UK ; 4 St George's Hospital, NHS Foundation Trust, London, UK ; 5 Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK ; 6 King's College Hospital, NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.3978/j.issn.2223-4292.2014.11.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426115PMC
June 2015

New vistas in clinical practice: susceptibility-weighted imaging.

Quant Imaging Med Surg 2015 Jun;5(3):448-52

1 Neuroradiology Department, The Royal London Hospital, Barts Health NHS Trust, London, UK ; 2 Neuroradiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK ; 3 Lysholm Department of Neuroradiology, The National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.

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http://dx.doi.org/10.3978/j.issn.2223-4292.2015.03.03DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426120PMC
June 2015