Alasdair Parker

Alasdair Parker

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Alasdair Parker

Alasdair Parker

Publications by authors named "Alasdair Parker"

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Fifteen-minute consultation: Efficient investigation of the child with early developmental impairment in the era of genomic sequencing.

Arch Dis Child Educ Pract Ed 2019 May 15. Epub 2019 May 15.

Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

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http://dx.doi.org/10.1136/archdischild-2018-315123DOI Listing
May 2019

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Neurol Clin Pract 2017 Dec;7(6):499-511

Mayo Clinic (MCP), Rochester, MN; UCL Great Ormond Street Institute of Child Health (PC, PG), London, UK; Great Ormond Street Hospital (PG), London, UK; Département de Neurologie (MA), Hôpital de Hautepierre, CHU de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (MA), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (MA), Université de Strasbourg, France; Institute of Medical Genetics and Applied Genomics (PB), University Hospital of Tübingen; Centogene AG (PB), Rostock, Germany; Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (OB), CHU de Nantes, France; Regional Coordinator Centre for Rare Diseases (AD), University Hospital Santa Maria della Misericordia, Udine, Italy; Division of Metabolism, Bambino Gesù Children's Hospital (CD-V), Rome, Italy; Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie der Universität Regensburg am Bezirksklinikum (H-HK), Regensburg, Germany; Hospices Civils de Lyon-Centre de Biologie et Pathologie Est (PL), Bron, France; University of São Paulo (HCFMRP-USP) (CML), Ribeirão Preto, SP, Brazil; Department of Medicine (DSO), Washington University, St Louis, MO; Child Development Centre (AP), Addenbrooke's Hospital, Cambridge, UK; University of Zaragoza (MP), IIS Aragon, Spain; Department of Neurology and German Center for Vertigo and Balance Disorders (MS), University Hospital Munich, Germany; Laboratoire Gillet-Mérieux (MTV), Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France; Department of Neuropsychiatry (MW), Royal Melbourne Hospital & University of Melbourne, Australia; and Universitätsklinikum Münster (TM), Germany.

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http://dx.doi.org/10.1212/CPJ.0000000000000399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800709PMC
December 2017

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

J Inherit Metab Dis 2017 05 2;40(3):385-394. Epub 2017 Mar 2.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s10545-017-0025-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393281PMC
May 2017

Genome annotation for clinical genomic diagnostics: strengths and weaknesses.

Genome Med 2017 05 30;9(1):49. Epub 2017 May 30.

The Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.

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http://dx.doi.org/10.1186/s13073-017-0441-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448149PMC
May 2017

Intracranial stimulation for children with epilepsy-early days.

Authors:
Alasdair Parker

Eur J Paediatr Neurol 2017 01 20;21(1):20. Epub 2016 Dec 20.

Department of Paediatric Neuroscience, Addenbrooke's Hospital, Cambridge, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.11.014DOI Listing
January 2017

CCDC88A mutations cause PEHO-like syndrome in humans and mouse.

Brain 2016 Apr 25;139(Pt 4):1036-44. Epub 2016 Feb 25.

Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK

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http://dx.doi.org/10.1093/brain/aww014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4806221PMC
April 2016

Genomics in early infantile epileptic encephalopathies - trials and tribulations.

Authors:
Alasdair Parker

Dev Med Child Neurol 2016 Jan 14;58(1):15. Epub 2015 Sep 14.

Department of Paediatric Neuroscience, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.1111/dmcn.12928DOI Listing
January 2016

Diagnostic delays in paediatric stroke.

J Neurol Neurosurg Psychiatry 2015 Aug 23;86(8):917-21. Epub 2014 Oct 23.

Neurosciences Unit, UCL Institute of Child Health, London, UK School of Clinical Sciences, University of Bristol, Bristol, UK.

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http://jnnp.bmj.com/content/early/2014/10/23/jnnp-2014-30918
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http://jnnp.bmj.com/lookup/doi/10.1136/jnnp-2014-309188
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http://dx.doi.org/10.1136/jnnp-2014-309188DOI Listing
August 2015

Idiopathic intracranial hypertension in childhood: pitfalls in diagnosis.

Dev Med Child Neurol 2014 Aug 22;56(8):749-55. Epub 2014 May 22.

Department of Paediatric Neurology, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.1111/dmcn.12475DOI Listing
August 2014

Abnormal cerebrospinal fluid biochemistry in biotinidase deficiency causing diagnostic conundrum.

J Child Neurol 2014 Jan 6;29(1):93-5. Epub 2012 Dec 6.

1Department of Paediatric Neurology, Addenbrooke's Hospital, Cambridge, United Kingdom.

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http://dx.doi.org/10.1177/0883073812467507DOI Listing
January 2014

Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.

Biochim Biophys Acta 2014 Jan 24;1842(1):56-64. Epub 2013 Oct 24.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2013.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898479PMC
January 2014

Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based study.

Lancet Neurol 2014 Jan 2;13(1):35-43. Epub 2013 Dec 2.

Neurosciences Unit, UCL Institute of Child Health, London, UK; School of Clinical Sciences, University of Bristol, Bristol, UK. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(13)70290-4DOI Listing
January 2014

Investigating microcephaly.

Arch Dis Child 2013 Sep 28;98(9):707-13. Epub 2013 Jun 28.

Department of Clinical Genetics, ATC, Addenbrooke's Hospital, Cambridge, UK.

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http://dx.doi.org/10.1136/archdischild-2012-302882DOI Listing
September 2013